Dissertations / Theses on the topic 'Genetic correlation analysis'

[EN] The global objective of the present thesis was to study the functional longevity defined as length of productive life (LPL) in five Spanish specialized lines of rabbit (A, V, H and LP). Chapter 3, aimed to check the genetic heterogeneity for longevity between the five lines estimating the additive variance and the corresponding effective heritabilities. As well as to test the genetic importance of time-dependent factors such as positive palpation order (OPP), physiological status (PS) and number of kits born alive (NBA) on the genetics of longevity. This point has been assessed using four different Cox proportional hazard models; the first one (Model 1) included all the previous factors in addition to the year-season effect, the inbreeding coefficient effect and finally the animal effect as random factor. The remaining three models were the same as Model 1 but excluding OPP (Model 2), or PS (Model 3), or NBA (Model 4). The complete data set comprised 15,670 does with records 35.6 % having censoring data, and the full pedigree file involved 19,405 animals. The heritability estimates for longevity in the five lines were low and ranged from 0.02±0.01 to 0.14±0.09, and consequently, it is not recommended to include this trait as selection criteria in rabbit breeding programs. Despite of the large variation of the heritability estimates, the corresponding HPD95% always overlapped and consequently the hypothesis of all lines having the same heritability cannot be discarded. Comparing the additive variance estimates of the four models, it was observed that by correcting for PS 51, 39, 38, 83 and 75% of the additive variance in lines A, V, H, LP and R, respectively, was removed. The risk of death or culling decreases as OPP advanced. Non-pregnant-non-lactating females are those under the higher risk. The does which had zero NBA had the highest risk, apart for this special figure (zero NBA) the risk decreased as NBA increased. Chapter 4 intended to estimate the genetic and environmental correlations between longevity and two prolificacy traits (number of kits born alive (NBA) and number of kits alive at weaning (NW)). Furthermore, to estimate the genetic and environmental correlations between longevity and the percentage of days that the doe spent in the different physiological statuses with respect to its entire productive life. The complete pedigree file comprised 19,405 animals. The datasets included records on 15,670 does which had 58,329 kindlings and 57,927 weanings. In general the genetic correlations between NBA and NW, and the hazard were low to very low, and the only line for which it can be said these genetic correlation to be different from zero was the LP line. Regarding the correlations between longevity and the percentage of days the doe spent in each physiological status, there were evidences of non-negligible genetic correlations between the two traits. Chapter 5 purposed to compare the five lines at their foundation and at fixed time periods during their selection programs. The first comparison was done at the origin of the lines, involving the complete data set, and using a genetic model (CM) including the additive values of the animals, so the effect of selection was considered. For the second comparison the same model as the first comparison was used, but excluding the additive effects from the model of analysis (IM), and involving only the data corresponding to each period, so the differences between the lines included the additive values of the animals. The lines V, H and LP showed at foundation a substantial superiority over line A. The line R had higher risk of death or culling with relevant differences when compared to V, H and LP lines. The maximum relative risks were observed between the lines LP and R (0.239), and between LP and A (0.317). For the comparisons at fixed times, the pattern of the differences between the A line and the others was similar to those observed at foundation.
[ES] El objetivo global de la presente tesis fue estudiar la longevidad funcional en cinco líneas españolas de conejos (A, V, H y LP), el carácter se definió como la longitud de la vida productiva. En el Capítulo 3, dirigido a comprobar la heterogeneidad genética de la longevidad entre las 5 líneas, se estimaron las varianzas aditivas y sus correspondientes heredabilidades efectivas. Y además se evaluó la importancia del orden de la palpación positiva (OPP), el estado fisiológico (PS) y el número de gazapos nacidos vivos (NBA) sobre el determinismo genético de la longevidad. Para ello se utilizaron 4 modelos de Cox de riesgos proporcionales; el primer modelo (Modelo 1) incluyó todos los factores anteriores, además del efecto del año-estación, el efecto de la consanguinidad y, finalmente, el valor aditivo de los animales como efecto aleatorio. Los otros tres modelos fueron igual que el Modelo 1 pero excluyendo OPP (Modelo 2), o PS (Modelo 3), o NBA (Modelo 4). Los datos de longevidad estaban referidos a 15,670 conejas y tuvieron una tasa de censura de 35.6%. La genealogía completa involucró a 19,405 animales. Las estimas de heredabilidad efectiva para la longevidad en las 5 líneas fueron bajas y variaron de 0.02±0.01 a 0.14±0.09. A pesar de la gran variación de las estimas puntuales de heredabilidad, los correspondientes intervalos HPD95% siempre se solaparon y por lo tanto la hipótesis de que todas las líneas tengan la misma heredabilidad no pudo descartase. Se observó que la exclusión de PS incrementó la varianza aditiva aproximadamente, en un 51, 39, 38, 83 y 75% en las líneas A, V, H, LP y R, respectivamente. El riesgo de muerte o eliminación disminuía a medida que avanzaba el OPP, observándose el riesgo más alto durante los primeros dos partos, partos en los que las conejas todavía están creciendo lo que sería un factor de riesgo importante. El nivel No-Gestante-No-Lactante de PS tuvo el mayor riesgo. Este nivel se interpreta como indicador de baja fertilidad y/o problemas de salud de la coneja. Las conejas que tenían cero NBA tuvieron el mayor riesgo de muerte o eliminación, aunque para el resto de niveles de NBA se apreció una disminución del riesgo a medida que aumenta la prolificidad. En el capítulo 4, se estimaron las correlaciones genéticas y ambientales entre la longevidad y dos caracteres de prolificidad [número de gazapos nacidos vivos (NBA) y el número de destetados (NW)]. El fichero de datos incluyó 58,329 partos y 57,927 destetes. También se estimaron las correlaciones entre longevidad y el porcentaje de días que la coneja pasó en los diferentes estados fisiológicos con respecto a la totalidad de su vida productiva. La única línea para la que se puede decir que la correlación genética entre NBA o NW y el riesgo fue significativamente diferente de cero fue la línea LP. Hubo evidencias de correlaciones genéticas no despreciables entre la longevidad y el porcentaje de días que la hembra pasó en cada estado fisiológico los dos caracteres. En el capítulo 5 se compararon las longevidades medias de las 5 líneas en su fundación y en períodos de tiempo determinados. La comparación de las líneas en el origen, utilizó todos los datos y un modelo genético (CM) que incluía los valores aditivos de los animales. Para la comparación en tiempos fijos se utilizó el mismo modelo, pero excluyendo los efectos aditivos del modelo de análisis (IM), utilizando sólo los datos correspondientes a cada período, por lo que las diferencias entre las líneas incluían los cambios debidos a la selección. Las líneas V, H y LP mostraron una superioridad sustancial sobre las líneas A y R. Los riesgos relativos máximos se observaron entre las líneas LP y R (0.239), y entre LP y A (0.317). Con respecto a las comparaciones en tiempos fijos, el patrón de las diferencias entre la línea de A y las otras líneas fue similar a los observados en la fundación.
[CAT] L'objectiu global de la present tesi va ser estudiar la longevitat funcional en cinc línies espanyoles de conills (A, V, H i LP), el caràcter es va definir com la longitud de la vida productiva. Al Capítol 3, dirigit a comprovar l'heterogeneïtat genètica de la longevitat entre les 5 línies, es van estimar les variàncies additives i les seues corresponents heretabilitats efectives. A més a més, es va avaluar la importància de factors dependents del temps, com l'orde de la palpació positiva (OPP) , l'estat fisiològic (PS) i el nombre de llorigons nascuts vius (NBA) sobre el determinisme genètic de la longevitat. Per a això es van utilitzar 4 models de Cox de riscos proporcionals; el primer model (Model 1) va incloure tots els factors anteriorment assenyalats, a més de l'efecte de l'any-estació, l'efecte de la consanguinitat i, finalment, el valor additiu dels animals com a efecte aleatori. Els altres tres models van ser igual que el Model 1 però excloent l'OPP (Model 2) , o PS (Model 3) , o NBA (Model 4) . Les dades de longevitat estaven referides a 15,670 conilles i van tindre una taxa de censura de 35.6%. La genealogia completa va involucrar a 19,405 animals. Les estimes d'heretabilitat efectiva (Model 1) per a la longevitat en les 5 línies van ser baixes i van variar de 0.02±0.01 a 0.14±0.09. A pesar de la gran variació de les estimes puntuals d'heretabilitat, els corresponents intervals HPD95% sempre es van solapar i per tant la hipòtesi que totes les línies tinguen la mateixa heretabilitat no va poder descartar-se. Es va observar que l'exclusió de PS va incrementar la variància additiva, aproximadament, en un 51, 39, 38, 83 i 75% en les línies A, V, H, LP i R, respectivament. El risc de mort o eliminació disminuïa a mesura que avançava l'OPP, observant-se el risc més alt durant els primers dos parts, en què les conilles encara estan creixent el que seria un factor de risc important. El nivell No-Gestant-No-Lactant de PS va tindre el major risc en comparació amb els altres nivells. Les conilles que tenien zero NBA van tindre el major risc de mort o eliminació, encara que per a la resta de nivells de NBA es va apreciar una disminució del risc a mesura que augmentà la prolificitat. Al Capítol 4, es van estimar les correlacions genètiques i ambientals entre la longevitat i dos caràcters de prolificitat [nombre de llorigons nascuts vius (NBA) i el nombre de deslletats (NW)]. El fitxer de dades va incloure 58,329 parts i 57,927 deslletaments. L'única línia per a la que es pot dir que la correlació genètica entre NBA o NW i el risc va ser significativament diferent de zero va ser la línia LP. Evidències de correlacions genètiques no menyspreables entre longevitat i els percentatge de dies que la femella va passar en cada estat fisiològic. Al Capítol 5 es compararen les longevitats mitges de les 5 línies en la seua fundació i en períodes de temps determinats. Per a la comparació de les línies a l'origen, es van utilitzar totes les dades i un model genètic (CM) que incloïa els valors additius dels animals, per la qual cosa es va considerar l'efecte de la selecció a partir de la fundació. En la comparació en temps fixos se va utilitzar el mateix model que en l'anterior, però excloent els efectes additius del model d'anàlisi (IM), utilitzant només les dades corresponents a cada període, per la qual cosa les diferències entre les línies incloïen els canvis deguts a la selecció. Les línies V, H i LP van mostrar una superioritat substancial sobre les línies A i R. Els riscos relatius màxims es van observar entre les línies LP i R (0.239), i entre LP i A (0.317). Respecte a les comparacions en temps fixos, el patró de les diferències entre la línia de A i les altres línies va ser semblant als observats en la fundació.
El Nagar, AGF. (2015). Genetic analysis of longevity in specialized lines of rabbits [Tesis doctoral no publicada]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/52390
TESIS

Knowledge of the genetic variation of crop collections is essential for their efficient use in plant breeding programs. The Ethiopian Highland Maize Germplasm Collection Mission was launched throughout the highlands of Ethiopia in 1998 and 287 traditional maize accessions were collected from farmers’ fields. To date, no information was available on the morphological and genetic diversity in this important collection. Various molecular marker techniques and quantitative genetics approaches were applied to accurately unravel the extent of phenotypic and genetic diversity, to study patterns of morphological and molecular variation and to determine association of molecular markers with quantitative trait variation, with the view of designing a sound breeding program and management strategy for maize in the highlands of Ethiopia. The morphological study confirmed that traditional Ethiopian highland maize accessions contain large amounts of variation for agro-morphological traits. The broad trait diversity observed among the accessions suggested ample opportunities for the genetic improvement of the crop through selection directly from the accessions and/ or the development of inbred lines for a future hybrid program. Selection practices followed by local farmers are mostly consistent within agroecology and gave rise to morphologically distinct maize accessions in different agroecologies. This underscores the importance of considering farmers’ knowledge of diversity in the collection and evaluation of local accessions. The results of amplified fragment length polymorphism (AFLP) and microsatellite or simple sequence repeat (SSR) marker analyses showed that bulking leaf samples from 15 individual plants per out-bred accession is an effective means of producing representative profiles of individual plants, thereby reducing the cost of DNA extraction and subsequent marker analysis of open-pollinated varieties. Cluster analyses based on AFLP and SSR data showed that most of the accessions collected from the Northern agroecology were genetically distinct from the Western and Southern accessions suggesting that differentiation for adaptive traits for drought conditions may have occurred in the Northern accessions. However, there was very little genetic differentiation between the Western and Southern accessions suggesting gene flow between the two agroecologies and recent introduction of similar improved varieties in these agroecoogies . In both marker systems, high mean genetic diversity was observed among the traditional Ethiopian highland maize accessions. This is possibly due to (i) the continuous introduction of maize from abroad by different organizations; (ii) genetic variation generated through farmers management practices; and (iii) the presence of different environmental conditions in the highlands of Ethiopia to which local landraces may have been adapted. The correlation between the morphological dissimilarity matrix and the matrices of genetic dissimilarity based on SSR and AFLP markers were 0.43 and 0.39, respectively (p = 0.001 in both cases). The correlation between SSR and AFLP dissimilarity matrices was 0.67 (p = 0.001). These significant correlations indicate that the three independent sets of data likely reflect the same pattern of genetic diversity, and validate the use of the data to calculate the different diversity statistics for Ethiopian highland maize accessions. From this study, three groups of maize accessions with distinctive genetic profiles and morphological traits were identified that will be useful for future collection, conservation and breeding programs of maize for the highlands of Ethiopia. A pilot association study using SSR markers and quantitative trait variation indicated that molecular markers could be useful to identify genetic factors controlling earliness, tallness, grain yield and associated traits, which could be exploited by various breeding schemes. The analytical tools outlined in this dissertation can be a useful tool in managing genetic variation of open-pollinated crops and will aid in the conservation of unique genetic diversity. Production stability and global food security are linked to the conservation and exploitation of worldwide genetic resources and this research attempts to add to that body of knowledge. Copyright 2005, University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. Please cite as follows: Beyene, YA 2005, Genetic analysis of traditional Ethiopian Highland Maize (Zea Mays l.) using molecular markers and morphological traits : implication for breeding and conservation, PhD thesis, University of Pretoria, Pretoria, viewed yymmdd < http://upetd.up.ac.za/thesis/available/etd-02212006-112610 / >
Thesis (PhD (Genetics))--University of Pretoria, 2005.
Genetics
unrestricted

As a part of vital infrastructure and transportation network, bridge structures must function safely at all times. Bridges are designed to have a long life span. At any point in time, however, some bridges are aged. The ageing of bridge structures, given the rapidly growing demand of heavy and fast inter-city passages and continuous increase of freight transportation, would require diligence on bridge owners to ensure that the infrastructure is healthy at reasonable cost. In recent decades, a new technique, structural health monitoring (SHM), has emerged to meet this challenge. In this new engineering discipline, structural modal identification and damage detection have formed a vital component. Witnessed by an increasing number of publications is that the change in vibration characteristics is widely and deeply investigated to assess structural damage. Although a number of publications have addressed the feasibility of various methods through experimental verifications, few of them have focused on steel truss bridges. Finding a feasible vibration-based damage indicator for steel truss bridges and solving the difficulties in practical modal identification to support damage detection motivated this research project. This research was to derive an innovative method to assess structural damage in steel truss bridges. First, it proposed a new damage indicator that relies on optimising the correlation between theoretical and measured modal strain energy. The optimisation is powered by a newly proposed multilayer genetic algorithm. In addition, a selection criterion for damage-sensitive modes has been studied to achieve more efficient and accurate damage detection results. Second, in order to support the proposed damage indicator, the research studied the applications of two state-of-the-art modal identification techniques by considering some practical difficulties: the limited instrumentation, the influence of environmental noise, the difficulties in finite element model updating, and the data selection problem in the output-only modal identification methods. The numerical (by a planer truss model) and experimental (by a laboratory through truss bridge) verifications have proved the effectiveness and feasibility of the proposed damage detection scheme. The modal strain energy-based indicator was found to be sensitive to the damage in steel truss bridges with incomplete measurement. It has shown the damage indicator's potential in practical applications of steel truss bridges. Lastly, the achievement and limitation of this study, and lessons learnt from the modal analysis have been summarised.

Os experimentos multiambientes são um tipo especial dos experimentos bifatoriais, muito usados em melhoramento genético de plantas, nos quais algumas cultivares são avaliadas em diferentes locais. Geralmente nesses estudos se encontra uma resposta diferencial das cultivares em cada local que é chamada de interação genótipo x ambiente ou G x E, que é bem explicada por modelos de efeitos aditivos e interação multiplicativa (AMMI). Frequentemente os experimentos G x E podem ser desbalanceados e um ou vários genótipos não serem testados em alguns locais. Às vezes para o pesquisador recomendar os ambientes pode ser de interesse obter estimativas daquelas combinações genótipo ambiente que não foram testadas e tais estimativas podem ser calculadas explorando a informação inerente a aquelas combinações que foram atualmente obtidas. Além do interesse do pesquisador por essas estimativas, os da- dos ausentes podem causar alguma modificação na estimação tradicional dos parâmetros nos modelos AMMI, pois para estimar os parâmetros é necessário um processo sequencial fazendo uma análise de variância com uma posterior decomposição por valor singular da matriz de residuais, a qual não pode ser calculada se existir uma matriz de interação com dados faltantes. Para resolver esses problemas Bergamo (2007) e Bergamo et al. (2008) propuseram uma nova técnica através do uso de imputação múltipla livre de distribuição (IMLD) e é por essa razão que se decidiu avaliar o recente desenvolvimento comparando-o com algumas metodologias de imputação que têm sido usadas com sucesso nos experimentos G x E com dados ausentes como os mínimos quadrados alternados ALS(0), ALS(1) (CALINSKI et al., 1992) e estimativas robustas r-AMMI1 e r-AMMI2 (DENIS; BARIL, 1992). Assim, foi de- senvolvido um estudo de simulação baseado em uma matriz de dados reais genótipos (15) ambientes (27) do ensaio estadual de algodoeiro herbáceo 2000/01 (FARIAS, 2005), fazendo retiradas aleatórias de 10%, 20% e 30%, imputando os dados e comparando os métodos através da raiz quadrada da diferença preditiva média (RMSPD), a estatística de similari- dade de Procrustes e o coe…ciente de correlação não paramétrico de Spearman. Também foi feita uma análise sobre a escolha de componentes multiplicativos de um modelo AMMI quando se têm matrizes completadas (observados + imputados). Os resultados do estudo de simulação mostraram que segundo a distribuição da RMSPD padronizada, o método r- AMMI1 é o melhor, superando o IMLD. Entretanto, utilizando a estatística de Procrustes se encontrou que completando matrizes com ALS(0) se obtém a maior similaridade com relação à matriz de dados originais, também foi mostrado que os cinco métodos considerados têm uma alta correlação entre as imputações e os correspondentes dados reais. Finalmente, recomenda-se utilizar a imputação de dados para a estimação dos parâmetros de um modelo AMMI sob ocorrência de dados ausentes, mas para determinar o número de componentes multiplicativos é preferível tomar a decisão somente sobre a informação observada.
The multienvironment trials are a special type of the two-factor experiments, widely used in genetic improvement of plants, where some cultivars are assessed in diferent locations. Generally, in these studies there is a di¤erential response of cultivars in each location that is called genotype environment interaction, or G x E, which is well explained by the additive main e¤ects and multiplicative interaction models (AMMI). Often the experiments GE may be unbalanced and one or several genotypes were not tested in some locations. Sometimes for the environments recommendations, the researcher may be interested in obtain estimates of those combinations G x E that were not tested and such estimates can be calcu- lated using the information of those combinations that were actually obtained. Additionally to the interest of the researchers in these estimates, the missing data may cause some pro- blems in the classical estimation of parameters in the AMMI models, because the parameter estimation need of a sequential process doing an analysis of variance followed by a singular value decomposition, which can not be calculated if there is a matrix of interaction with missing data. To solve these problems Bergamo (2007) and Bergamo et al. (2008) proposed a new technique using the distribution free multiple imputation (IMLD), and for this reason was decided to evaluate the recent development through the comparison with some methods of imputation that have been used successfully in experiments GE with missing data like the AMMI estimates based on alternating least squares ALS(0), ALS(1) (CALINSKI et al. 1992) and AMMI estimates with robust sub-model r-AMMI1 and r-AMMI2 (DENIS; BARIL, 1992). Thus, was developed a simulation study based on a matrix of true data genotypes (15) environments (27) of the upland cotton variety trials (ensaio estadual de algodoeiro her- báceo) 2000/01 (FARIAS, 2005), doing missed random (10%, 20%, 30%), imputing the data and comparing the methods through the root mean square predictive di¤erence (RMSPD) of the true value, the Procrustes statistic and the Spearman´s ranks correlation coe¢ cient. Also was made an analysis on the choice of the multiplicative components of an AMMI model after imputation on the complete data sets (observed + imputed). The results of the simulation study has shown that according to the distribution of RMSPD standardized, the r-AMMI1 method is better than the IMLD. However, using the Procrustes statistic was found that imputing data matrix with ALS(0), is obtained the greatest similarity related to the true data matrix. The …ve methods considered show high correlation between the true and the imputed missing values. Finally, is recommended using the imputation data for the estimation of the parameters of an AMMI model under the presence of missing data, but for choosing the number of multiplicative terms is preferable take the decision only on the observed information.

Tesis por compendio
[ES] El análisis del control genético del hospedador sobre su microbiota ha sido señalado recientemente como un tema prometedor en diferentes campos de estudio. La relación entre el holobionte hospedador-microbioma y los fenotipos en el ganado lechero podría conducir a nuevos conocimientos en los programas de selección genética. Dentro de esta tesis doctoral, se realizó la estimación y análisis a través de diferentes enfoques estadísticos con el objetivo de desentrañar el control genético del hospedador sobre la microbiota en ganado lechero. Además, se analizó el rasgo de concentración de metano como un fenotipo potencial para ser incluido en el programa de mejora de ganado lechero español. Mayor abundancia relativa de la mayoría de los eucariotas (principalmente protozoos ciliados y hongos) y algunas arqueas (Methanobrevibacter spp. Methanothermus spp. y Methanosphaera spp.) fueron factores de riesgo para ser clasificadas en la categoría alta. Se propuso un conjunto de modelos de ecuaciones estructurales (SEM) de tipo recursivo dentro de un marco de Cadenas de Markov Monte Carlo (MCMC) para analizar conjuntamente la relación hospedador-metagenoma-fenotipo. Se estableció un modelo bivariado no-recursivo como punto de referencia. La heredabilidad de CH4 se estimó en 0,12 ± 0,01 en ambos modelos, recursivo y no recursivo. Asimismo, las estimaciones de heredabilidad para la abundancia relativa de los taxones se superpusieron entre los modelos y variaron entre 0.08 y 0.48. Las correlaciones genéticas entre la composición microbiana y el CH4 variaron de -0,76 a 0,65 en el modelo bivariado no recursivo y de -0,68 a 0,69 en el modelo recursivo. Doce matrices de relación de microbiota (K) fueron construidas a partir de diferentes métricas de distancia del microbioma, con el objetivo de comparar su desempeño dentro de un marco de estimación de componentes de varianza para CH4 y toda la microbiota. Análisis de simulación (n = 1000) y datos reales fueron desarrollados considerando cuatro modelos posibles: un modelo genómico aditivo (GBLUP), un modelo de microbioma (MBLUP), un modelo de efectos genéticos y microbioma (HBLUP) y un modelo de efectos de interacción genético, microbioma y genético × microbioma (HiBLUP). Un nuevo término "Holobiabilidad" fue definido para referirse a la proporción de la varianza atribuible a los efectos del holobionte hospedador-microbioma. Las estimaciones a partir de datos reales usando HiBLUP variaron dependiendo de la K utilizada y estuvieron entre 0.15-0.17, 0.15-0.21 y 0.42-0.59 para heredabilidad, microbiabilidad y holobiabilidad, respectivamente. El conjunto de datos de microbioma fue agregado a través de análisis de componentes principales (PCA), en pocos componentes principales (PCs) que fueron utilizados como aproximaciones del metagenoma central. Parte de la variabilidad condensada en estos PC está controlada por el genoma de la vaca, con estimaciones de heredabilidad para el primer PC (PC1) de ~ 0,30 en todos los niveles taxonómicos, con una gran probabilidad (> 83%) de que la distribución posterior sea > 0,20 y con un intervalo de mayor densidad posterior al 95% (95% HPD) no conteniendo cero. La mayoría de las estimaciones de correlación genética entre PC1 y metano fueron grandes (>0,70) en todos los niveles taxonómicos, con la mayor parte de la distribución posterior (> 82%) siendo > 0,50 y con su 95% HPD no conteniendo cero. Estos resultados sugieren que todo el metagenoma del rumen regula recursivamente las emisiones de metano en las vacas lecheras, y que tanto el CH4 como las composiciones de la microbiota están parcialmente controladas por el genotipo del hospedador. Las variables agregadas (PC) propuestas podrían ser usadas en programas de mejora de animales para reducir las emisiones de metano en las generaciones futuras.
[CA] L'anàlisi del control genètic de l'hoste sobre la seva microbiota s'ha assenyalat recentment com un tema prometedor en diferents camps d'estudi. La relació entre el holobiont hoste-microbioma i els fenotips en bovins de llet podria conduir a nous coneixements en els programes de cria. Dins d'aquest doctorat es van realitzar tesis, estimacions i anàlisis mitjançant diferents enfocaments estadístics amb l'objectiu de desentranyar el control genètic de l'hoste sobre la microbiota en bestiar lleter. A més, es va analitzar el tret de concentració de metà com a fenotip potencial a incloure en el programa espanyol de cria de bestiar lleter. La major abundància relativa de la majoria dels eucariotes (principalment protozous i fongs ciliats) i algunes arquees (Methanobrevibacter spp. Methanothermus spp i Methanosphera spp.) Van ser factors de risc per classificar-se en les categories altes. Es va proposar un conjunt de models d'equacions estructurals (SEM) de tipus recursiu dins d'un marc de cadena Markov Monte Carlo (MCMC) per analitzar conjuntament la relació hoste-metagenoma-fenotip. Es van establir models no recursius com a referència. L'heretabilitat del CH4 es va estimar en 0,12 ± 0,01 en ambdós models, recursius i no recursius. De la mateixa manera, les estimacions d'heretabilitat de l'abundància relativa dels tàxons es van superposar entre models i van oscil·lar entre 0,08 i 0,48. Les correlacions genètiques entre la composició microbiana i el CH4 van oscil·lar entre -0,76 i 0,65 en els models bivariables no recursius i de -0,68 a 0,69 en els models recursius. Dotze matrius de relació de microbiota (K) de diferents mètriques de distància de microbiomes, amb l'objectiu de comparar el seu rendiment dins d'un marc d'estimació de components de variància per CH4 i anàlisi de microbiomes sencers en simulació (n = 1000, 25 rèpliques) i es van realitzar dades reals , considerant quatre possibles models: un model genòmic additiu (GBLUP), un model de microbioma (MBLUP), un model d'efectes genètics i microbiomes (HBLUP) i un model d'efectes d'interacció genètics, microbiomes i genètics × microbiomes (HiBLUP). Es va definir un nou terme "Holobiabilitat" per referir-se a la proporció de la variància fenotípica atribuïble als efectes holobiont del microbioma host. Les estimacions de dades reals mitjançant HiBLUP van variar en funció de la K utilitzada i van oscil·lar entre 0,15-0,17, 0,15-0,21 i 0,42-0,59 per heretabilitat, microbiabilitat i holobiabilitat, respectivament. El conjunt de dades de microbiomes es va agregar mitjançant l'anàlisi de components principals (PCA) en pocs components principals (PC) que es van utilitzar com a proxies del metagenoma principal. Part de la variabilitat condensada en aquestes PC està controlada pel genoma de la vaca, amb estimacions d'heretabilitat per a la primera PC (PC1) de ~ 0,30 a tots els nivells taxonòmics, amb una gran probabilitat (> 83%) de la distribució posterior> 0,20 i amb un 95% més alt interval de densitat posterior (95% HPD) que no conté zero. La majoria de les estimacions de correlació genètica entre PC1 i metà eren grans (>0,70) en tots els nivells taxonòmics, amb una gran part de la distribució posterior (> 82%)> 0,50 i amb un 95% de HPD que no contenia zero. Aquests resultats suggereixen que tot el metagenoma del rumen regula recursivament les emissions de metà en vaques lleteres i que tant el CH4 com les composicions de microbiota estan parcialment controlades pel genotip de l'hoste. Les variables agregades proposades (PC) es podrien utilitzar en programes de cria d'animals per reduir les emissions de metà en les generacions futures.
[EN] The analysis of the host genetic control over its microbiota has recently been pointed out as a promising theme in different fields of study. The relationship between the host-microbiome holobiont and phenotypes in dairy cattle could lead to new insights in breeding programs. Within this Ph.D. thesis, estimation and analysis through different statistical approaches were performed aiming to unravel the host genetic control over the microbiota in dairy cattle. Besides, methane concentration trait was analyzed as a potential phenotype to be included in the Spanish dairy cattle breeding program. Higher relative abundance of most eukaryotes (mainly ciliate protozoa and fungi) and some archaea (Methanobrevibacter spp. Methanothermus spp and Methanosphera spp.) were risk factors for being classified in the high categories. a set of structural equation models (SEMs) of a recursive type within a Markov chain Monte Carlo (MCMC) framework was proposed to jointly analyze the host-metagenome-phenotype relationship. Non-recursive models were set as benchmark. Heritability of CH4 was estimated at 0.12 ± 0.01 in both, the recursive and non-recursive, models. Likewise, heritability estimates for the relative abundance of the taxa overlapped between models and ranged between 0.08 and 0.48. Genetic correlations between the microbial composition and CH4 ranged from -0.76 to 0.65 in the non-recursive bivariate models and from -0.68 to 0.69 in the recursive models. Regardless of the statistical model used, positive genetic correlations with methane were estimated consistently for the 7 genera pertaining to the Ciliophora phylum, as well as for those genera belonging to the Euryarchaeota (Methanobrevibacter sp.), Chytridiomycota (Neocallimastix sp.) and Fibrobacteres (Fibrobacter sp.) phyla. Twelve microbiota relationship matrices (K) from different microbiome distance metrics were built, aiming to compare its performance within a variance component estimation framework for CH4 and whole microbiome analysis on simulation (n = 1000, 25 replicates) and real data were performed, considering four possible models: an additive genomic model (GBLUP), a microbiome model (MBLUP), a genetic and microbiome effects model (HBLUP) and a genetic, microbiome and genetic × microbiome interaction effects model (HiBLUP). A new term "Holobiability" was defined to refer to the proportion of the phenotypic variance attributable to the host-microbiome holobiont effects. Estimates from real data using HiBLUP varied depending on the K used and ranged between 0.15-0.17, 0.15-0.21 and 0.42-0.59 for heritability, microbiability and holobiability, respectively. The microbiome dataset was aggregated through Principal Component Analysis (PCA) into few principal components (PCs) that were used as proxies of the core metagenome. Part of the variability condensed in these PCs is controlled by the cow genome, with heritability estimates for the first PC (PC1) of ~0.30 at all taxonomic levels, with a large probability (>83%) of the posterior distribution being > 0.20 and with the 95% highest posterior density interval (95%HPD) not containing zero. Most genetic correlation estimates between PC1 and methane were large (>0.70) at all taxonomic levels, with most of the posterior distribution (>82%) being >0.50 and with its 95%HPD not containing zero. These results suggest that rumen's whole metagenome recursively regulate methane emissions in dairy cows, and that both CH4 and the microbiota compositions are partially controlled by the host genotype. The purposed aggregated variables (PCs) could be used in animal breeding programs to reduce methane emissions in future generations.
This research was financed by RTA2015-00022-C03-02 (METALGEN) project from the national plan of research, development and innovation 2013-2020 and the Department of Economic Development and Competitiveness (Madrid, Spain). We thank the regional Holstein Associations and farmers collaborating in the project. Computational support from the High-Performance Computing Centre in Galicia (Spain) is acknowledged. Alejandro Saborío-Montero acknowledges the scholarship from Universidad de Costa Rica for his doctorate studies which partially conducted to the progress of this study.
Saborío Montero, A. (2021). Study of the Host Genetic Control over the Ruminal Microbiota and their Relationships with Methane Emissions in Dairy Cattle [Tesis doctoral]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/172633
TESIS
Compendio

E comum encontrar nos ensaios experimentais a analise de dois fatores, cada um com diferente numero de níveis, eles proporcionam uma tabela de dados de dupla entrada. Geralmente a analise destes dados e feita através da analise de variância - ANOVA, cumprindo algumas pressuposições básicas do modelo, mas ha outros estudos nos quais e de grande importância a interação, como e o caso dos estudos de melhoramento genético, em que o objetivo e selecionar genótipos com ótimos desempenhos em diferentes ambientes. A pouca eficiência na analise da interação dos genótipos com os ambientes (GE) da ANOVA pode representar um problema aos melhoristas, que devem tirar proveito dessa interação para os seus estudos. Os modelos aditivos com interação multiplicativa - AMMI, traz vantagens na seleção de genótipos quando comparados com métodos convencionais, pois proporcionam uma melhor analise da interação (GE), alem de permitir combinar componentes aditivos e multiplicativos em um mesmo modelo; estes modelos tem demonstrado ser eficientes na analise quando se tem apenas uma variável resposta, mas quando há mais de uma, ainda n~ao existe um procedimento geral para realizar a analise. O presente trabalho propõe uma metodologia de analise quando se têm modelos AMMI bivariados, realizando analises individuais das variáveis respostas seguidas de uma analise de procrustes, que permite fazer comparações dos resultados obtidos nas analises individuais e finalmente uma confirmação destes resultados através da analise multivariada de variância - MANOVA. Os resultados obtidos permitem concluir que a analises AMMI e procrustes proporcionam uma boa alternativa de analise para os modelos AMMI bivariados.
Is frequently nd in the studies the two way factor analysis, each factor with dierent number of levels, they conform a two way table of data, generally the analysis of the data is made with the analysis of variance - ANOVA, satisfying some assumptions, but there are some studies in which is very important the interaction, like the case of the improvement studies, where the objetive is select genotypes with optimum performance in dierents environments. The poor eciency in the genotypes and environment interaction (GE) analysis of the ANOVA can represents a problem for the researchers, that need to take advantage of the interaction. The additive main eects and multiplicative interactions model - AMMI, give advantages in the selection of genotypes when is compare with traditional methods, because give a better interaction (GE) analysis, also permit combine additive and multiplicative components in the same model, these models have demonstrated be ecient in the analysis with just one response variable but when there is more than one there is not a clear procedure to do the analysis. This work presents a analysis methodology for the bivariate AMMI models, doing individuals analysis in the response variables follow by the procrustes, which permit compare the results of the individuals analysis, and nally a conrmation of theses results with the multivariate analysis of variance - MANOVA. From the results can be concluded that the AMMI and the procrustes analysis give a good alternative for the bivariate AMMI models analysis.

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A seleção baseada em características reprodutivas tem sido muito empregada em programas de melhoramento genético de suíno. Assim, objetivaram-se avaliar os efeitos ambientais e genéticos que influenciam o intervalo desmame-cio (IDC) e verificar sua influência no número de nascidos total (TL), nascidos vivos (NV) e mortos (NM) em fêmeas suínas. Para análise dos efeitos ambientais, utilizaram-se 8.104 dados da 1ª a 6ª ordem de parição, e, para as estimativas dos parâmetros genéticos, apenas as informações do 1º ao 3º IDC, o que resultou em 6.548 observações, que foram analisadas pelo método REML, utilizando-se modelos uni e multicaracterística. Para este último, considerou-se cada IDC (1º, 2º e 3º) como uma característica distinta. Avaliaram-se, também, as correlações genéticas entre o IDC, TL, NM e idade ao primeiro parto (IPP). Para os fatores ambientais, o modelo incluiu como efeitos fixos rebanho, linhagem, ano (AP) e estação (EP) de parto, e as covariáveis idade da porca ao parto (IDPP), TL e duração da lactação (DL). A DL, na forma linear, e a IDPP, na forma quadrática, influenciaram o IDC. Rebanho, AP e EP foram fontes de variação significativas, enquanto TL e linhagem não o foram. Não foi observada influência do IDC sobre TL, NV, nem sobre NM. A herdabilidade estimada para o IDC pelo modelo de repetibilidade foi baixa. As correlações genéticas entre os IDC (1º, 2º e 3º) foram de moderada a baixa magnitude, evidenciando que o modelo multicaracterística é mais indicado para as estimativas de parâmetro genético nessa população. As correlações genéticas entre IDC, TL e NM, assim como IDC e IPP foram favoráveis à seleção.
Selection for reproductive traits has been largely used in swine breeding programs. The aims of this study were to evaluate environmental and genetic effects that affect the weaning-to-estrus interval (WEI) in sows and to assess their influence on litter size (LS), number of live born (LP) and dead born piglets (DP). Data consisting of 8,104 WEI from the 1st to 6th farrowing recorded in two herds were used for environmental analysis, but for estimating the genetic parameters only data from the 1st to 3rd farrowing were used, totalling 6,548 records. Genetic analysis was performed using the REML method with single and multitrait models, where each WEI was considered as a different trait. Genetic correlations among WEI, LS, DP and age at first farrowing (AFF) were also estimated using a multitrait model. For the environmental analysis, the model included as fixed effects the herd, line, and year (YF) and season (SF) of farrowing, and as covariates the sow’s age at farrowing (SAF), LS, and lactation length (LL). The effects were linear for LL and quadratic for SAF. The herd, YF and SF were important sources of variation, whereas LS and line were not significant. There were no effects of WEI on the litter traits (LS, LP and DP). The heritability estimated for WEI was low, and genetic correlations among its different intervals were of moderate to low magnitude, evidencing that a multitrait model was more indicated for estimating the genetic parameters for this trait in this population. The genetic correlations between WEI and LS, DP and AFF would be favourable in a selection.

One purpose of breeding programs is the selection of the better test lines. The accuracy of selection can be improved by using optimal design and using models that fit the data well. Finding this is not easy, especially in large experiments which assess more than one hundred lines without the possibility of replication due to the limited material, area and high costs. Thus, the large number of parameters in the complex variance structure that needs to be fitted relies on the limited number of replicated check varieties. The main objectives of this thesis were to model 21 trials of sugarcane provided by \"Centro de Tecnologia Canavieira\" (CTC - Brazilian company of sugarcane) and to evaluate the design employed, which uses a large number of unreplicated test lines (new varieties) and systematic replicated check (commercial) lines. The mixed linear model was used to identify the three major components of spatial variation in the plot errors and the competition effects at the genetic and residual levels. The test lines were assumed as random effects and check lines as fixed, because they came from different processes. The single and joint analyses were developed because the trials could be grouped into two types: (i) one longitudinal data set (two cuts) and (ii) five regional groups of experiment (each group was a region which had three sites). In a study of alternative designs, a fixed size trial was assumed to evaluate the efficiency of the type of unreplicated design employed in these 21 trials comparing to spatially optimized unreplicated and p-rep designs with checks and a spatially optimized p-rep design. To investigate models and design there were four simulation studies to assess mainly the i) fitted model, under conditions of competition effects at the genetic level, ii) accuracy of estimation in the separate versus joint analysis; iii) relation between the sugarcane lodging and the negative residual correlation, and iv) design efficiency. To conclude, the main information obtained from the simulation studies was: the convergence number of the algorithm model analyzed; the variance parameter estimates; the correlations between the direct genetic EBLUPs and the true direct genetic effects; the assertiveness of selection or the average similarity, where similarity was measured as the percentage of the 30 test lines with the highest direct genetic EBLUPs that are in the true 30 best test lines (generated); and the heritability estimates or the genetic gain.
Um dos propósitos dos programas de melhoramento genético é a seleção de novos clones melhores (novos materiais). A acurácia de seleção pode ser melhorada usando delineamentos ótimos e modelos bem ajustados. Porém, descobrir isso não é fácil, especialmente, em experimentos grandes que possuem mais de cem clones sem a possibilidade de repetição devido à limitação de material, área e custos elevados, dadas as poucas repetições de parcelas com variedades comerciais (testemunhas) e o número de parâmetros de complexa variância estrutural que necessitam ser assumidos. Os principais objetivos desta tese foram modelar 21 experimentos de cana de açúcar fornecidos pelo Centro de Tecnologia Canavieira (CTC - empresa brasileira de cana de açúcar) e avaliar o delineamento empregado, o qual usa um número grande de clones não repetidos e testemunhas sistematicamente repetidas. O modelo linear misto foi usado, identificando três principais componentes de variação espacial nos erros de parcelas e efeitos de competição, em nível genético e residual. Os clones foram assumidos de efeitos aleatórios e as testemunhas de efeitos fixos, pois vieram de processos diferentes. As análises individuais e conjuntas foram desenvolvidas neste material pois os experimentos puderam ser agrupados em dois tipos: (i) um delineamento longitudinal (duas colheitas) e (ii) cinco grupos de experimentos (cada grupo uma região com três locais). Para os estudos de delineamentos, um tamanho fixo de experimento foi assumido para se avaliar a eficiência do delineamento não replicado (empregado nesses 21 experimentos) com os não replicados otimizado espacialmente, os parcialmente replicados com testemunhas e os parcialmente replicados otimizado espacialmente. Quatro estudos de simulação foram feitos para avaliar i) os modelos ajustados, sob condições de efeito de competição em nível genético, ii) a acurácia das estimativas vindas dos modelos de análise individual e conjunta; iii) a relação entre tombamento da cana e a correlação residual negativa, e iv) a eficiência dos delineamentos. Para concluir, as principais informações utilizadas nos estudos de simulação foram: o número de vezes que o algoritmo convergiu; a variância na estimativa dos parâmetros; a correlação entre os EBLUPs genético direto e os efeitos genéticos reais; a assertividade de seleção ou a semelhança média, sendo semelhança medida como a porcentagem dos 30 clones com os maiores EBLUPS genético e os 30 melhores verdadeiros clones; e a estimativa da herdabilidade ou do ganho genético.

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A presença de interação genótipo-ambiente é caracterizada pela resposta diferente de genótipos às variações ambientais, e pode ocasionar alteração na classificação de desempenho dos genótipos em diferentes ambientes. Assim é de fundamental importância sua investigação para se obter maior precisão na seleção dos animais. O objetivo deste estudo foi investigar a presença de interação genótipo−ambiente para peso ao sobreano em bovinos da raça Canchim criados no Brasil no período de 1989 a 2000. As metodologias utilizadas foram: 1-comparação de dois modelos: com e sem o efeito não correlacionado touro−ambiente; 2-correlação genética entre o peso ao sobreano em diferentes ambientes; 3-correlação de Pearson e de Spearman entre os valores genéticos dos animais obtidos nos diferentes ambientes, em análises uni e multicaráter; e 4-normas de reação dos animais sobre um gradiente ambiental, obtidas por regressão aleatória. Os ambientes estudados nas metodologias 1, 2 e 3 foram quatro regiões do Brasil (1-Paraná, 2-São Paulo, 3-Minas Gerais e 4- Mato Grosso e Mato Grosso do Sul) e três grupos de municípios do Estado de São Paulo, formados por técnica estatística multivariada para definir grupos de ambientes por meio de variáveis climáticas. Para a metodologia 4, o gradiente ambiental foi obtido por meio das soluções de grupo de contemporâneos. Os modelos utilizados nos métodos 1, 2 e 3 incluíram efeitos fixos de grupo de contemporâneos e de idade ao sobreano como covariável, e os efeitos aleatórios aditivos diretos e residuais. Para o método 4, o modelo incluiu o efeito fixo de idade ao sobreano como covariável, os efeitos aleatórios de grupo de contemporâneos e efeitos genéticos aditivo do intercepto e da inclinação da norma de reação. Os resultados indicaram diferenças nos modelos comparados (com e sem o efeito touro−ambiente)...
The genotype-environment interaction presence is characterized by different answers of genotypes to ambient variations, and can cause changes in the classification of the genotypes performances in different environments. The objective in this study was to investigate the presence of genotype – environment interaction for post-yearling weight of Canchim cattle raised in Brazil in the period of 1989 to 2000. The methodologies used were: 1-comparison of two models: with and without the uncorrelated sire−environment effect; 2-genetic correlation between postyearling weight in different environments; 3- Pearson’s and Spearman’s correlations between animal’s breeding values in different environments in one and multitrait analyses; and 4- reaction norms of animals on environmental gradient obtained by random regression. The environments investigated in methods 1, 2 and 3 were four regions of Brazil (1-State of Paraná, 2- State of São Paulo, 3- State of Minas Gerais, and 4- States of Mato Grosso and Mato Grosso do Sul) and three city clusters of the State of São Paulo, formed by multivariate methods to define homogeneous environments of production through climatic variables. For method 4 the environmental gradient was obtained through solutions of contemporary groups. The models used in methods 1, 2 and 3 included fixed effects and random additive direct and residual effects. The model for method 4 included the fixed effect of post-yearling age as covariate, the random effect of contemporary group, and the random additive genetic effecs of intercept and inclination of the reaction norms. The results indicated that differences in the models compared (with and without sire−environment effect), low genetic correlations (0.07 to 0.51) among post-yearling weight in different environments, reclassification of the animals in environments, a scale effect in reaction norms... (Complete abstract click electronic access below)

Objetivou-se com o presente estudo foram caracterizar e definir ambientes homogêneos de produção de bovinos de corte compostos no Brasil com relação às variáveis climáticas e geográficas, utilizando técnicas exploratórias multivariadas. Verificar a presença de interação genótipo-ambiente (GxE) nas características peso ao nascimento (PN), peso a desmama (PD), ganho de peso da desmama ao sobreano (GP), perímetro escrotal (PE) e musculosidade (MUS). Pela análise de agrupamento não-hierárquico foram agrupadas as regiões similares com relação às variáveis ambientais. Foram formados seis grupos de fazendas. A inclusão do efeito de interação touro-grupo foi avaliada em análises uni-característica. Comparou-se um modelo com o efeito de interação touro-grupo com outro sem esse efeito. Incluir o efeito de interação touro-GEO no modelo de avaliação genética do PN, PD e PE não resultou melhor ajuste aos dados, no entanto não deve ser descartada a hipótese de se considerar outros tipos de efeitos de GxE. Foram estimados parâmetros genéticos por meio de análises multi-característica, considerando-se a mesma característica como diferente em cada grupo de fazendas. Foi verificada heterogeneidade de variância para todas as características. Os coeficientes de herdabilidade nos grupos de fazendas para PN, PD, GP, PE e MUS variaram de 0,15 a 0,25; 0,16 a 0,25; 0,10 a 0,20; 0,17 a 0,31 e 0,17 a 0,24, respectivamente. As correlações genéticas variaram de 0,19 a 0,90 para PN, -0,02 a 0,92 para PD, 0,31 a 0,93 para GP, 0,64 a 0,89 para PE e de 0,18 a 0,80 para MUS nos grupos fazendas. As diferentes estimativas de herdabilidade obtidas entre grupos de fazendas implicam resposta à seleção diferenciada conforme o ambiente em que os animais são criados e selecionados. Pelas correlações genéticas entre as características nas diversas regiões, constatou-se GxE, indicando que os melhores reprodutores para uma determinada região não são sempre os mesmos para as demais. Um modelo hierárquico de norma de reação sob abordagem Bayesiana também foi utilizado para estimação dos componentes de variância, parâmetros genéticos e verificação da existência de GxE. Os gradientes ambientais baseados nas soluções para o efeito de grupo de contemporâneos para PN, PD, GP e PE foram -6,45 a +4,75 kg, -65 a +65 kg, -72 a +112 kg e -6.5 a +5.5 cm, respectivamente. As estimativas de herdabilidade foram crescentes no gradiente ambiental, PN (0,04 a 0,55), PD (0,39 a 0,47), GP (0,01 a 0,43) e PE (0,21 a 0,23). A correlação entre o nível e a inclinação da norma de reação para PN e GP foi de alta magnitude, indicando que os animais de maior valor genético médio foram os que apresentaram maior resposta à melhoria das condições ambientais, caracterizando o efeito de escala da GxE. Para PD e PE, a correlação entre intercepto e inclinação foi baixa implicando reclassificação dos animais em ambientes diferentes. O modelo hierárquico de normas de reação foi útil para descrever alterações nos componentes de variância decorrentes do ambiente e para descrever a presença de GxE nas características estudadas de bovinos compostos. Existe variação genética com respeito à sensibilidade dos animais, o que possibilita a seleção de genótipos mais plásticos ou mais robustos.
The objectives of this study were to characterize and define homogenous production environments of composite beef cattle in Brazil in terms of climatic and geographic variables using multivariate exploratory techniques; to evaluate the presence of genotype by environment interaction (GxE) for birth weight (BW), weaning weight (WW), postweaning gain (PWG), scrotal circumference (SC) and muscling. Nonhierarchical cluster analysis was used to group farms located in regions with similar environmental variables into clusters. Six clusters of farms were formed. The effect of sire-cluster interaction was tested by single-trait analysis. The inclusion of sire-cluster interaction in the genetic evaluation model may not result in better fit to the data for BW, WW and SC. Genetic parameters were estimated by multiple-trait analysis considering the same trait to be different in each cluster. The heritability coefficient in the clusters for BW, WW, PWG, SC and muscling ranged from 0.15 to 0.25; 0.16 to 0.25; 0.10 to 0.20; 0.17 to 0.31 and 0.17 to 0.24, respectively. The genetic correlations ranged from 0.19 to 0.90 for BW, -0.02 to 0.92 for WW, 0.31 to 0.93 for PWG, 0.64 a 0.89 for SC and 0.18 to 0.80 for muscling in the clusters of farms. The different heritability estimates between groups of farms indicates that the response to selection varies with the environment in which animals are selected. The low genetic correlations between traits in the different regions demonstrated the presence of GxE, indicating that the best sires in a certain region are not the same for the other regions. A reaction norm hierarchical model using Bayesian approach was also used for estimation of variance components, genetic parameters and to verify the existence of GxE. Environmental gradients based in solutions for the effect of contemporary groups for BW, WW, PWG and SC were -6.45 to +4.75 kg, -65 kg to +65, -72 to +112 kg and -6.5 to +5.5 cm, respectively. Heritability estimates were increasing in the environmental gradient, BW (0.04 to 0.55), WW (0.39 to 0.47), PWG (0.01 to 0.43) and SC (0.21 to 0.23). The correlation between the level and slope of reaction norm for BW and PWG was of high magnitude, indicating that animals of higher average breeding value were the ones which presented a best response to environmental improvement, characterizing a scale effect on GxE. For WW and SC, the correlation between intercept and slope was low implying reranking of animals in different environments. The reaction norm hierarchical model has been useful to describe changes in the variance components due to the environment and to describe the presence of GxE traits in composite beef cattle. There is genetic variation with respect to the sensitivity of the animals, which enables the selection of genotypes most plastics or more robust.

Upland cotton (Gossypium hirsutum) is cultivated in many contrasting production environments and is often subjected to a combination of abiotic stresses such as high temperature (heat) and water deficit (drought) stress. In the present dissertation, two recombinant inbred line populations were constructed from heat-tolerant and -susceptible parental lines and evaluated in multiple environments under the presence of two treatments, well-watered (heat stress) and water-limited in the presence of high temperature (combination of heat and drought stresses). We assessed two agronomic traits, seed cotton yield and lint yield, as well as six fiber traits, lint percent, micronaire, length, strength, uniformity, and elongation. Fiber traits had moderate to very high broad-sense heritabilities, while heritabilities of agronomic traits were lower for both populations in each irrigation regime. Correlations between traits were not effected by the irrigation regimes. A stability analysis across the range of environments tested demonstrated that high seed cotton yield performance and greater stability may play a role in tolerance to the combination of heat and drought stresses. Additionally, we constructed linkage maps for both recombinant inbred line populations and mapped QTL controlling variation all eight traits. A total of 138 QTL were identified across populations for the eight traits. Climate change in the form of rising temperatures and reduced water availability will increase the occurrence of the combination of heat and drought stresses in a farmer's field. Thus, current cotton breeding programs will need to focus on the development of cotton varieties tolerant to heat, drought, and the combination of the two.

A identificação de parâmetros físicos e geométricos utilizando medições experimentais é um procedimento comum no tratamento de muitos problemas da ciência e engenharia. Neste contexto, a análise inversa apresenta-se como uma importante ferramenta no tratamento desses problemas. Este trabalho apresenta formulações que acoplam o uso do método dos elementos de contorno (MEC) e a técnica de correlação de imagens digitais (CID) (para obtenção dos campos de deslocamentos) na resolução de alguns problemas inversos de interesse para engenharia de estruturas. Implementou-se um código computacional baseado no MEC, em técnicas de regularização e em algoritmo genético, para análise inversa em problemas de identificação das propriedades dos materiais, recuperação das condições de contorno e identificação de parâmetros do modelo coesivo de fraturamento. Exemplos com dados oriundos de uma prévia análise direta (simulando dados experimentais) são apresentados para demonstrar a eficiência das formulações propostas. Ensaios de vigas em flexão em três pontos com entalhe foram realizados com aquisição de imagens para obtenção dos campos de deslocamentos da região de propagação da fissura, via CID. Estes campos foram utilizados para alimentar o modelo inverso proposto. A técnica de CID originou dados em quantidade e precisão suficientes para os fins almejados neste trabalho. A utilização do MEC mostrou-se simples e de grande eficiência para a solução dos problemas inversos tratados.
The identification of physical and geometrical parameters utilizing experimental measurements is a common procedure in treating many problems of science and engineering. In this context, the inverse analysis is an important tool in treating these problems. This work presents formulations that associate the use of boundary element method (BEM) and the technique of digital image correlation (DIC) (for obtaining the displacement fields) in solving some inverse problems of interest to Structure Engineering. A computer code based on the BEM, on regularization techniques and genetic algorithm has been implemented for the treatment of problems such as Identification of material properties, recovery of boundary conditions and identification of cohesive model parameters. Examples with data from a previous direct analysis (simulating experimental data) are presented to demonstrate the effectiveness of the proposed formulations. Three point flexural tests with notch were performed and images were acquired to obtain the displacement fields on one lateral surface of the samples, via DIC. These displacement fields were used to feed the inverse model proposed. The DIC technique resulted in quantitative and accurate data for the purposes of this study. The use of the BEM proved to be simple and efficient in solving the inverse problems treated.

Body weight is considered an important trait for the selection of replacement animals in both wool and mutton sheep. Knowledge of the genetic variance of each trait and covariances among traits is essential for effective genetic evaluation and improvement programs. It is important that estimated breeding values for performance traits should be estimated as accurately as possible. This could be achieved by fitting the most appropriate statistical model, which accounts for all known non-genetic effects, as well as correctly partitioning the genetic variance into its various sources. The aim of this study was to identify the most appropriate models for estimation of breeding values for body weights recorded at different ages in Merino sheep. Various statistical procedures, including uni- and multivariate linear models employing restricted maximum likelihood methods, random regression and repeatability models were evaluated. The dataset used in this study comprises body weight data recorded at different ages in the Grootfontein Merino stud from 1968 to 2012. The total number of males and females for which birth weight was recorded, were 7794 and 8317 respectively. The univariate direct heritability of body weight increased with an increase in age. Direct heritability estimates were 0.20 ± 0.03 for birth weight, 0.16 ± 0.02 for weaning weight, 0.51 ± 0.04 for 15-month body weight and 0.40 ± 0.05 for 3-year adult body weight. Maternal heritability estimates were 0.11 ± 0.02 for birth weight, 0.04 ± 0.01 for weaning weight and 0.08 ± 0.02 for 15-month body weight. The genetic correlation between direct and maternal effects was negative for all weights where it was included and ranged from -0.95 ± 0.14 for 6-month body weight to -0.28 ± 0.09 for birth weight. The repeatability model including direct and maternal genetic effects, without splines, was the most appropriate repeatability model for estimation of genetic parameters for body weight. The accuracy of the estimated breeding values were determined using Spearman rank correlations and number and proportion of common animals in the Top 10% and Top 1% lists. The comparison of estimated breeding values for body weights obtained with univariate, multivariate and repeatability models revealed that the multivariate model was the most efficient method due to the high accuracies obtained with this procedure. These results will be implemented when estimating breeding values for body weights for the animals in the Merino reference population during the development phase of a suitable SNP key to be used in genomic selection for body weight in South African Merino sheep.
Dissertation (MSc (Agric))--University of Pretoria, 2017.
Animal and Wildlife Sciences
MSc (Agric)
Unrestricted

Thesis (MSc)--Stellenbosch University, 2000.
ENGLISH ABSTRACT: Hereditary haemochromatosis (HH) is an autosomal recessive iron storage disease where the accumulation of iron in parenchymal organs may lead to diabetes, heart failure, liver cirrhosis, arthropathy, weakness and a variety of other ailments if preventive measures are not taken. HH is often not considered as a cause of these conditions, particularly not in the elderly where the background frequencies of type II diabetes, osteoarthritis and heart failure are generally high. Heterozygosity for C282Y, the HFE-mutation causing HH in approximately 80% of affected individuals worldwide, has been linked to a raised incidence of malignancies of the colon and rectum, stomach and the haematological system. One of the highest carrier-frequencies (116) in the world for this mutation has been reported in the South-African Afrikaner population, resulting in C282Y-homozygosity in approximately 1 in every 115 people in this group. A sample of 197 elderly Afrikaner volunteers was recruited for genotype/phenotype association studies. Their clinical presentation was denoted, biochemical iron-status determined and HFE genotyping performed. Either an increase or decrease in survival, or both, were proposed, depending on possible gender effects. HH has been positively associated with various cancer types, but may also protect against iron-deficiency anaemia which is by far the most frequent cause of anaemia in the older person. This study has led to the following findings: 1. The carrier frequency of mutation C282Y was found to be 1/8 in the elderly population (similar in males and females), which is slightly lower than the 1/6 reported in younger adults from the same population. Only one C282Y homozygote and two C282YIH63D compound heterozygotes were detected, all of them female. 2. The prevalence of diabetes, heart disease, arthropathy or a combination of these conditions did not differ significantly in C282Y heterozygotes and the mutationnegative group. 3. Among 24 C282Y heterozygotes only one individual with rectal carcmoma was detected compared with two cases with rectal- and seven with colonic malignancies in 153 mutation-negative individuals. The single female C282Y homozygote identified suffered from both rectal and colon carcinoma and died approximately 6 months ago as a consequence of her colon malignancy. 4. Serum ferritin appears to be a highly unreliable parameter of iron status, particularly in the elderly where a variety of factors that may influence the levels are often present in elderly individuals. This may be due to ageing alone or as a result of multiple comorbidities. 5. Serum ferritin levels were lower than expected in elderly subjects with mutation C282Y and compound heterozygotes with both C282Y and H63D, which may be related to a variable penetrance of the HFE gene mutations. It is possible that variation in other genes exist that confer protection against iron-loading by gene-gene interaction. The probability that environmental factors (e.g. a low iron diet) are more important in this respect cannot be excluded, although this is considered less likely in the light of the fact that the same trend was observed in all mutation-positive elderly individuals. It is therefore highly likely that C282Y -positive subjects with significant iron loading have died before reaching their seventies, particularly since none of the males included in this study were homozygous or compound heterozygous for the mutations analysed. In conclusion, possession of a mutant HFE gene does not appear to confer a survival advantage in old age, neither does it seem that mutation carriers with significant ironloading are overlooked by the medical fraternity. Further investigations are warranted to shed more light on the contributions of gene-gene and gene-environment interaction in the clinical manifestation of Hll, and how these processes can be manipulated to prevent the symptoms of this largely underdiagnosed disease.
AFRIKAANSE OPSOMMING: Oorerflike hemochromatose (OH) is 'n outosomaal resessiewe yster-oorladingssiekte waar akkumulasie van yster in parenkimale organe kan lei tot suikersiekte, hartversaking, lewer sirrose, artropatie, moegheid en 'n verskeidenheid van ander probleme indien voorkomende maatreëls nie getref word nie. OH word gewoonlik nie oorweeg as moontlike oorsaak vir hierdie toestande nie, veral nie in ouer mense nie waar die agtergrond-frekwensie van tipe II diabetes, osteoartritis en hartversaking in elk geval hoog is. Heterosigositeit vir die HFE mutasie C282Y, wat OH veroorsaak in ongeveer 80% van geaffekteerde gevalle wêreldwyd, is geassosieer met 'n verhoogde voorkoms van kanker van die kolon, rektum, maag en ook die hematologiese sisteem. Van die hoogste draer frekwensies ter wêreld vir hierdie mutasie (1/6) is gevind in die Afrikaner populasie van Suid-Afrika, wat daarop dui dat 1 uit elke 115 mense in die groep homosigoties vir die C282Y mutasie kan wees. Eenhonderd sewe-en-negentig bejaarde Afrikaner vrywilligers het aan die studie deelgeneem wat daarop gemik was om genotipe/fenotipe korrelasies uit te voer. Die kliniese beeld van elke individu is gedokumenteer, die yster status biochemies bepaal en HFE genotipering uitgevoer. Die a priori veronderstelling was dat oorlewing sou toeneem of afneem, of beide, afhangende van die geslag van die individu. Daar is voorheen 'n verband gevind tussen OH en die ontwikkeling van bogenoemde maligniteite, maar aan die ander kant kan dit moontlik ook beskerm teen anemie as gevolg van yster gebrek, wat juis die mees algemene oorsaak van anemie in die ouer persoon is. Hierdie studie het tot die volgende bevindings gelei: 1. Die draer frekwensie van mutasie C282Y was 1/8 in die bejaardes (dieselfde in mans en vrouens), wat effens laer is as die 1/6 wat gerappoteer is in jonger volwassenes. Slegs een C282Y homosigoot en twee C282YIH63D saamgestelde heterosigote is opgespoor, en al drie was vroulik. 2. Die voorkoms van suikersiekte, hartsiekte, gewrigspyne of 'n kombinasie van hierdie aandoenings het nie betekenisvol verskil tussen die C282Y heterosigote en die mutasienegatiewe groep nie. 3. Daar was slegs een persoon met rektum karsinoom in die groep van 24 bejaarde C282Y heterosigote, terwyl daar twee gevalle met rektum kanker en sewe gevalle met kolon kanker gevind is onder die 153 mutasie-negatiewe individue. Die enkele vroulike C282Y homosigoot wat opgespoor is het beide rektum- en kolonkanker gehad en is ongeveer 6 maande vóór voltooing van die tesis oorlede aan haar kolon karsinoom. 4. Dit wil voorkom asof serum ferritien veral in bejaardes 'n hoogs onbetroubare maatstaf is vir yster status, aangesien dit deur 'n verskeidenheid faktore beïnvloed word wat dikwels in bejaardes aanwesig is as gevolg van veroudering of veelvuldige komorbiditeite. 5. Die serum ferritien vlakke was laer as verwag in sowel die bejaarde C282Y-homosigoot as in die twee saamgestelde heterosigote met mutasies C282Y en H63D, wat moonlik die gevolg is van die wisselende graad van penetrasie van HFE mutasies. Dit is moontlik dat variasie in ander gene beskerming bied teen yster-oorlading deur middel van geen-geen interaksie. Die moontlikheid dat omgewingsfaktore (soos 'n lae-yster dieet) 'n belangrike rol speel in hierdie verband kan nie uitgesluit word nie, hoewel dit minder waarskynlik lyk te wees in die lig van die feit dat dieselfde neiging waargeneem is in alle mutasie-positiewe bejaardes. Die kans is dus redelik groot dat individue met die C282Y mutasie en betekenisvolle yster oorlading oorlede is voordat hulle die sewentiger jare kon bereik, veral omdat geeneen van die mans wat ingesluit is in die studie homosigoot of 'n saamgestelde heterosigoot was vir die mutasies wat geanaliseer is nie. Opsommend wil dit voorkom asof die teenwoordigheid van 'n mutante HFE geen nie 'n beter oorlewingskans bied op ouer leeftyd nie, en dit blyk ook dat mutasie draers met betekenisvolle ysteroorlading nie deur dokters misgekyk word nie. Verdere navorsing is nodig om meer lig te werp op die bydrae van geen-geen- en geen-omgewing interaksie in die kliniese manifestasie van OH, en ook hoe hierdie prosesse gemanipuleer kan word om die simptome van hierdie onder -gediagnoseerde siekte te voorkom.

X-linked recessive brachytelephalangic chondrodysplasia punctata (CDPX1) is a disorder of bone development characterized clinically by chondrodysplasia punctata (CDP), nasomaxillary hypoplasia and brachytelephalangy. There is a wide range of clinical severity in affected males. CDPX1 is caused by inherited deficiency of Arylsulfatase E (ARSE), a Golgi enzyme whose natural substrate is unknown and, is inhibited by warfarin, a drug that reduces vitamin K levels. Nevertheless, almost half of the patients with CDPX1 phenotypes do not have identifiable ARSE mutations. Although this could be due to undetected ARSE mutations or genetic heterogeneity, some could be phenocopies due to fetal deficiency of vitamin K in the first trimester of pregnancy. This has been observed with maternal warfarin use and maternal small bowel disease, pancreatitis and severe hyperemesis gravidarum, leading to the belief that fetal vitamin K deficiency could inhibit a normal ARSE enzyme, thus generating CDPX1 phenocopies. In addition, CDPX1 phenocopies are found in offspring of mothers with maternal autoimmune diseases. Since 2008, with the help of the Collaboration Education and Test Translation program (CETT) for CDPX1, 20 novel variations in ARSE and 24 potential phenocopies have been identified. Clinical data on all patients evaluated was collected and analyzed. In order to determine the effect of the variations on protein function, all ARSE mutant constructs were engineered and transiently expressed in COS1 cells. ARSE activity was measured using the fluorogenic artificial substrate, 4-methylumbelliferyl sulfate. Results showed that (1) frequency of ARSE mutation identification in patients with CDPX1 phenotype is ~ 53%, (2) all missense alleles had negligible ARSE activity suggesting they are pathological and, (3) since the mutations are located throughout the protein and patients with gene deletions show the same phenotype as the ones with missense alleles, genotype-phenotype correlations for ARSE are unlikely.
La chondrodysplasia ponctuée brachytelephalangique liée à l'X récessive (CDPX1) est un trouble du développement des os caractérisée cliniquement par la chondrodysplasia ponctuée (CDP), la hypoplasie nasomaxillaire et la brachytelephalangie. Il y a un large éventail de sévérité clinique chez les sujets masculins touchés. CDPX1 est causée par une carence héréditaire de l'Aryl-sulfatase E (ARSE), une enzyme de l'appareil de Golgi dont le substrat naturel est inconnu et est inhibée par la warfarine, un médicament qui réduit les niveaux de vitamine K. Néanmoins, près de la moitié des patients présentant des phénotypes CDPX1 n'ont pas de mutations d'ARSE identifiables. Bien que cela pourrait être dû à des mutations non détectées ou à une hétérogénéité génétique, certains pourraient être phénocopies dues à une carence fœtale en vitamine K durant le premier trimestre de la grossesse. Cela a été observé avec l'utilisation maternelle de la warfarine et la maladie de l'intestin grêle chez la mère, la pancréatite et vomissements incoercibles sévères, conduisant à croire que la carence en vitamine K fœtale pourrait inhiber une enzyme ARSE normale, générant ainsi des phénocopies CDPX1. Depuis 2008, avec l'aide du programme CETT (Collaboration Education and Test Translation program) pour la CDPX1, 20 nouvelles variations dans ARSE et 24 phénocopies potentielles ont été identifiées. Les données cliniques sur tous les patients évalués ont été recueillies et analysées. Afin de déterminer l'effet des variations sur la fonction des protéines, toutes les constructions de mutant ARSE ont été conçues et exprimées de façon transitoire dans les cellules COS1. L'activité d'ARSE a été mesurée en utilisant le substrat fluorogénique artificiel, 4-methylumbelliferyl sulfate. Les résultats ont montré que (1) la fréquence de l'identification de mutation d'ARSE chez les patients ayant le phénotype CDPX1 est de ~53%, (2) que tous les mutants avaient une activité négligeable d'ARSE suggérant qu'ils sont pathologique, (3) que étant donné que la localisation des mutations et que les patients ayant des délétions du gène exhibe le même phénotype que ceux ayant les allèles missense, les corrélations entre génotype et phénotype sont peu probables.

Sociality is widespread across the animal kingdom and explanations for its incidence and persistence are numerous. Whilst various drivers of sociality have been identified and tested, controversies remain and we are still far from a complete understanding of the mechanisms underlying social structure. Here I use a combination of field observations on a free-living population of feral horses Equus caballus and laboratory behavioural experiments on the Pacific beetle roach Diploptera punctata to investigate the drivers of sociality in these species. I explore four key aspects of sociality: the influences of kinship on sociality and social development, the strength and persistence of social bonds, the relationship between inbreeding avoidance and dispersal and the potential influence of individuals on social structure. Whilst kinship is a major driver of social structure in most mammalian species, I present evidence in Chapter Three that horse society is not structured by levels of kinship; however, in Chapter Five, I show that kinship levels to potential mates are significant in female dispersal choices in this species. In Chapter Eight, I provide evidence for significant effects of kinship to companions upon social and physical development in D. punctata, indicating a clear potential benefit of kin-based associations. The stability of social bonds can have substantial effects upon social structure. In Chapter Three, I show that the bonds between female horses show significant stability and are formed independently to kinship levels, a rare result in a non-primate species. I also provide evidence consistent with the hypothesis that these bonds are driven by male harassment. Similarly, in D. punctata, I find in Chapter Eight that female clustering occurs within resting aggregations and that the most likely explanation is the avoidance of male harassment. I therefore propose that this driver of female sociality may be a highly prevalent force structuring animal societies. Inbreeding depression has been demonstrated in a variety of species and contexts. Here I show in Chapter Five that in horses, female dispersal is likely to be influenced by kinship levels with potential mates. In Chapter Four, I then show that more heterozygous males have a higher reproductive success, most likely due to their ability to utilise a larger home range. Finally, local population structure can be highly influenced by individual association choices and behaviour. In Chapter Two, I show that in horses, mothers may allow their sons to postpone dispersal by the maintenance of stronger mother-son bonds, permitting an extended period of social learning. In Chapter Seven, I demonstrate that consistent inter-individual variation in personality traits exists in D. punctata which is stable across life stages, despite age effects on the strength of boldness. This is a source of variation which may be extremely important for decision-making social groups. My main conclusion from this work is that male harassment is often a key driver of sociality which may frequently be overlooked. I also demonstrate that the effects of kinship are far-ranging but not omnipresent. This thesis therefore makes a major contribution to our understanding of the mechanisms underlying animal sociality and presents clear potential avenues for future research.

The common bean (Phaseolus vulgaris L.) has a great national importance and therefore, the development of new cultivars with excellent agronomic performance, seed quality, technological and nutritional, represent an alternative to solve food, social and economic problems. Therefore, experiments were carried out, conducted in three growing seasons: normal rainy 2010/2011, dry season 2011 and normal rainy 2011/2012. Treatments consisted of 16 inbred common bean lines, 12 inbred lines belonging to different breeders and four commercial cultivars used as control. The objectives of this work were: (1) evaluated the effects of the line x environment interaction on the morphological, phenological and grain yield characters of inbred common bean lines and to study the correlation and the direct and indirect association between these characters; (2) evaluate the morphological characteres and the health and physiological quality of bean seeds by different tests, and to determine the association of vigor tests with field emergence to evaluate the morphological and physiological and sanitary quality of seeds advanced lines of beans by different tests, and to determine the association of vigor tests with field emergence seedling in the field; and (3) study genetic variability of common bean lines as grain yield, cooking time and minerals concentration in grains, study the linear correlation between grain yield, cooking time and the minerals concentration in grains and use the Z index to select the common bean lines with superiority for most characters. Significant line x environment interaction was obtained for the seed coat colour, days number for the flowering, pods number per plant, seeds number per plant, 100 seed mass and grain yield. The grain yield and morphological characters don t show correlation coefficients estimates favorable for the selection common bean lines with high grain yield. It was observed that genetic variability exists to proceed with the selection of lines regarding morphological, physiological and sanitary quality of seeds. The lines, TB 02- 24, LP 07-80, LP 08-90, CNFP 10104, Carioca, TB 02-07 and SM 1810 had higher germination and vigor and the lines, Guapo Brilhante, Gen P5-4-3-1 and Gen PR14-2-3 show up with lower germination and vigor. The accelerated aging test is the most appropriate to estimate the effect of bean seeds. The common bean lines showed genetic variability for the grain yield, the cooking time and the calcium and iron concentrations in grains. Correlation of low magnitude was found between the study variables, indicating the no existence of casual correlation. The selection of the Gen Pr 14-2-3 line is recommended because it provided the highest Z index values for most characters. According to the results, genetic variability exists to make selection of lines as the morphological, physiological and sanitary quality of the seed.
O feijão (Phaseolus vulgaris L.) tem uma grande importância nacional e, por isso, o desenvolvimento de novas cultivares com excelentes características agronômicas, com qualidade de sementes, nutricional e tecnológica, representaria uma alternativa para solucionar problemas alimentares, sociais e econômicos. Diante disso, foram conduzidos três experimentos em cultivo de safra 2010/2011, safrinha 2011 e safra 2011/2012. Os tratamentos consistiram de 16 linhagens avançadas de feijão, sendo 12 linhagens pertencentes a diferentes obtentores e quatro cultivares comerciais, utilizadas como testemunhas. Os objetivos deste trabalho foram: (1) avaliar os efeitos da interação linhagem x ambiente sobre os caracteres morfológicos, fenológicos e de produção das linhagens avançadas de feijão e estudar as associações lineares e as relações diretas e indiretas entre esses caracteres; (2) avaliar as características morfológicas e da qualidade sanitária e fisiológica de sementes de feijão por diferentes testes, bem como determinar a associação dos testes de vigor com a emergência de plântulas a campo; e (3) estudar a variabilidade genética das linhagens de feijão quanto à produtividade de grãos, o tempo de cozimento e a concentração de minerais em grãos e a associação linear entre esses caracteres, utilizando o índice Z para selecionar as linhagens com superioridade para a maioria dos caracteres. Interação linhagem x ambiente significativa foi obtida para a coloração do tegumento das sementes, o número de dias da emergência à floração, o número de vagens por planta, o número de sementes por planta, a massa de 100 sementes e a produtividade de grãos. Os caracteres morfológicos não apresentam estimativas de coeficiente de correlação favoráveis à seleção de linhagens de feijão com superioridade para a produtividade de grãos. Foi observado que existe variabilidade genética para se proceder à seleção de linhagens quanto às características morfológicas, qualidade sanitária e fisiológica de sementes. As linhagens Pérola, TB 02-24, LP 07-80, LP 08-90, CNFP 10104, Carioca, TB 02-07 e SM 1810 apresentaram maior germinação e vigor e as linhagens, Guapo Brilhante, Gen P5-4-3-1 e Gen Pr14-2-3 mostram-se com menor germinação e vigor. O teste de envelhecimento acelerado é o mais indicado para estimar o vigor de sementes de feijão. As linhagens de feijão apresentaram variabilidade genética para a produtividade de grãos, o tempo de cozimento e a concentração de cálcio e de ferro em grãos. Correlações de baixa magnitude foram obtidas entre as variáveis em estudo, indicando a inexistência de relação casual. A seleção da linhagem Gen Pr 14-2-3 é recomendável, pois forneceu os maiores valores de índice Z para a maioria dos caracteres.

CoordenaÃÃo de AperfeiÃoamento de Pessoal de NÃvel Superior
A cultura do feijÃo-caupi (Vigna unguiculata L. Walp) possui grande importÃncia socioeconÃmica em funÃÃo dos seus teores elevados de proteÃna, de sua resistÃncia a seca e boa produtividade. Sendo cultivado nas regiÃes tropicais e subtropicais da Ãfrica, Brasil e Ãsia, o feijÃo-caupi à cultivado, predominantemente, por pequenos agricultores os quais utilizam poucos recursos tecnolÃgicos. Nos Ãltimos anos, o feijÃo-caupi tem chamado a atenÃÃo de mÃdios e grandes produtores, os quais necessitam de cultivares adaptadas a mecanizaÃÃo, precoces e responsivas as melhorias do ambiente. Para iniciar um programa de melhoramento genÃtico que atenda as necessidades desses novos produtores de feijÃo-caupi tornam-se necessÃrios o conhecimento do germoplasma disponÃvel, assim como o das relaÃÃes entre as variÃveis relacionadas com a produtividade e tÃcnicas de seleÃÃo apropriadas ao feijÃo-caupi. Nesse contexto, objetivou-se com esse trabalho avaliar a divergÃncia genÃtica por caracteres fenotÃpicos e moleculares, estudar as inter-relaÃÃes entre caracteres relacionados com a produtividade e Ãndices de seleÃÃo adequados a genÃtipos de porte ereto e ciclo precoce. Para a avaliaÃÃo da divergÃncia genÃtica por marcadores moleculares, realizaram-se extraÃÃes de DNA de 46 genÃtipos provenientes do Banco de Germoplasma da Universidade Federal do Cearà e da Embrapa Meio Norte e posteriormente foram realizadas PCR com oito iniciadores ISSR no LaboratÃrio de Biologia Molecular da Embrapa AgroindÃstria Tropical. Para a anÃlise da divergÃncia genÃtica por marcadores fenotÃpicos, estudo de correlaÃÃes canÃnicas, anÃlise de trilha e aplicaÃÃo de Ãndices de seleÃÃo realizou-se um experimento em blocos ao acaso com quatro repetiÃÃes e 28 genÃtipos na Fazenda Lavoura Seca, pertencente ao Centro de CiÃncias AgrÃrias da Universidade Federal do Cearà (CCA/UFC), localizada no municÃpio de QuixadÃ, CearÃ. A partir dos resultados obtidos pelos marcadores moleculares verificou-se que estes foram eficientes na identificaÃÃo do polimorfismo em genÃtipos de feijÃo-caupi de porte ereto e ciclo precoce e que hà uma tendÃncia de agrupamento desses genÃtipos em funÃÃo da origem. Avaliando a divergÃncia genÃtica atravÃs de marcadores fenotÃpicos observou-se que o genÃtipo CE-46 à o mais divergente entre os 28 genÃtipos avaliados. Os cruzamentos entre os grupos VIII e XI e grupos VII e VIII podem resultar em combinaÃÃes gÃnicas favorÃveis e as variÃveis respostas floraÃÃo inicial e ciclo da cultura contribuem em maior magnitude para a quantificaÃÃo da divergÃncia genÃtica entre os genÃtipos avaliados. A partir dos estudos realizados utilizando correlaÃÃes canÃnicas e anÃlise de trilha conclui-se que a seleÃÃo direta com base no nÃmero de sementes por vagem e peso de 100 sementes favorece o aumento em produtividade de feijÃo-caupi; a seleÃÃo direta com base no nÃmero de vagens por planta tende a diminuir o ciclo cultural em feijÃo-caupi; o decrÃscimo no comprimento da vagem e o aumento no nÃmero de sementes por vagem contribuem para o aumento na produtividade em feijÃo-caupi de porte ereto e ciclo precoce. Constatou-se que os Ãndices base e multiplicativo sÃo mais eficientes na seleÃÃo de genÃtipos de feijÃo-caupi precoces e de porte ereto e que os genÃtipos CE-113 e CE-748 reÃnem, simultaneamente, vÃrios caracteres morfolÃgicos e agronÃmicos favorÃveis alÃm da produtividade elevada.
Cowpea has great socioeconomic importance in relation to their high contents of protein, drought resistance and good yield. Being cultivated in tropical and subtropical regions of Africa, Brazil and Asia, cowpea is cultivated predominantly by small farmers who use few technological resources. In recent years, cowpea has drawn the attention of medium and large farmers, which require cultivars suited to mechanization, early and responsive to environmental improvements. To start a breeding program that meets the needs of these new cowpea cultivars become necessary the knowledge of the germplasm available, and the relationship between variables related to yield and techniques appropriate to the selection of cowpea. In this context, this study aimed to evaluate the genetic divergence of erect and early cowpea genotypes through phenotypic and molecular characters, besides to study the interrelations among traits related to yield and the selection index appropriate to indentify the best erect and early cowpea genotypes. For the assessment of genetic diversity by molecular markers, there were extractions of DNA from 46 genotypes from the Germplasm Bank of the Universidade Federal do Cearà and Embrapa Meio Norte and then PCR was performed with eight ISSR primers in the Laboratory of Molecular Biology of Embrapa AgroindÃstria Tropical. For the analysis of genetic divergence of phenotypic markers, study of canonical correlation, analysis and application to track the index of selection was carried out an experiment in randomized blocks with four replicates and 28 genotypes in Fazenda Lavoura Seca, which belongs to the Centro de CiÃncias AgrÃrias Universidade Federal do Cearà (CCA / UFC), located in QuixadÃ, CearÃ. From the results obtained by molecular markers it was found that these were effective in identifying the polymorphism in erect and early cowpea genotypes. There is a tendency for grouping of genotypes according to the origin. Assessing the genetic divergence in phenotypic markers showed that CE-46 genotype is the most divergent among the 28 genotypes. Crossings between the groups VIII and XI and groups VII and VIII may result in favorable gene combinations and response variables initial flowering of the crop cycle and contribute to greater magnitude to the quantification of genetic divergence among the genotypes. From studies using canonical correlation and path analysis it is concluded that direct selection based on the seed number per pod and one hundred seed weight favors the increase in yield cowpea. A direct selection based on the number of pods per plant tends to decrease the cycle in cowpea, the decrease in the pod length and the increase in the seed number per pod contribute to the increase in cowpea yield. The base and multiplicative selection indices are more efficient in the erect and early cowpea genotypes selection . The CE-113 and CE-748 genotypes combine, simultaneously, several favorable morphological and agronomic characters besides the high yield.

Resumo: A presença de interação genótipo-ambiente é caracterizada pela resposta diferente de genótipos às variações ambientais, e pode ocasionar alteração na classificação de desempenho dos genótipos em diferentes ambientes. Assim é de fundamental importância sua investigação para se obter maior precisão na seleção dos animais. O objetivo deste estudo foi investigar a presença de interação genótipo−ambiente para peso ao sobreano em bovinos da raça Canchim criados no Brasil no período de 1989 a 2000. As metodologias utilizadas foram: 1-comparação de dois modelos: com e sem o efeito não correlacionado touro−ambiente; 2-correlação genética entre o peso ao sobreano em diferentes ambientes; 3-correlação de Pearson e de Spearman entre os valores genéticos dos animais obtidos nos diferentes ambientes, em análises uni e multicaráter; e 4-normas de reação dos animais sobre um gradiente ambiental, obtidas por regressão aleatória. Os ambientes estudados nas metodologias 1, 2 e 3 foram quatro regiões do Brasil (1-Paraná, 2-São Paulo, 3-Minas Gerais e 4- Mato Grosso e Mato Grosso do Sul) e três grupos de municípios do Estado de São Paulo, formados por técnica estatística multivariada para definir grupos de ambientes por meio de variáveis climáticas. Para a metodologia 4, o gradiente ambiental foi obtido por meio das soluções de grupo de contemporâneos. Os modelos utilizados nos métodos 1, 2 e 3 incluíram efeitos fixos de grupo de contemporâneos e de idade ao sobreano como covariável, e os efeitos aleatórios aditivos diretos e residuais. Para o método 4, o modelo incluiu o efeito fixo de idade ao sobreano como covariável, os efeitos aleatórios de grupo de contemporâneos e efeitos genéticos aditivo do intercepto e da inclinação da norma de reação. Os resultados indicaram diferenças nos modelos comparados (com e sem o efeito touro−ambiente)... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: The genotype-environment interaction presence is characterized by different answers of genotypes to ambient variations, and can cause changes in the classification of the genotypes performances in different environments. The objective in this study was to investigate the presence of genotype - environment interaction for post-yearling weight of Canchim cattle raised in Brazil in the period of 1989 to 2000. The methodologies used were: 1-comparison of two models: with and without the uncorrelated sire−environment effect; 2-genetic correlation between postyearling weight in different environments; 3- Pearson's and Spearman's correlations between animal's breeding values in different environments in one and multitrait analyses; and 4- reaction norms of animals on environmental gradient obtained by random regression. The environments investigated in methods 1, 2 and 3 were four regions of Brazil (1-State of Paraná, 2- State of São Paulo, 3- State of Minas Gerais, and 4- States of Mato Grosso and Mato Grosso do Sul) and three city clusters of the State of São Paulo, formed by multivariate methods to define homogeneous environments of production through climatic variables. For method 4 the environmental gradient was obtained through solutions of contemporary groups. The models used in methods 1, 2 and 3 included fixed effects and random additive direct and residual effects. The model for method 4 included the fixed effect of post-yearling age as covariate, the random effect of contemporary group, and the random additive genetic effecs of intercept and inclination of the reaction norms. The results indicated that differences in the models compared (with and without sire−environment effect), low genetic correlations (0.07 to 0.51) among post-yearling weight in different environments, reclassification of the animals in environments, a scale effect in reaction norms... (Complete abstract click electronic access below)
Orientador: Mauricio Mello de Alencar
Coorientador: Fernando Flores Cardoso
Banca: Joanir Pereira Eler
Banca: Alfredo Ribeiro de Freitas
Banca: Sandra Aidar de Queiroz
Banca: João Ademir de Oliveira
Doutor

O presente trabalho tem os seguintes objetivos: propor uma sistemática para o estudo e a interpretação da estabilidade e adaptabilidade fenotípica, através de duas técnicas de análise multiway (PARAFAC e Tucker3); propor a construção de um gráfico, denominado de Triplot, que possibilita avaliar as relç]oesoes entre os 3 modos (genótipos, locais e anos); implementar uma rotina computacional para a análise de dados, segundo os modelos multiway; implementar uma rotina computacional para a construção do Triplot. Os dados a serem uti- lizados são relativos a experimentos com 13 genótipos de feijão que foram conduzidos em 9 ex- perimentos distintos constituídos pelos anos agrícolas de 2000/2001, 2001/2002 e 2005/2006, pelos municípios de Dourados e Aquidauana, sendo que os experimentos foram instalados na época das águas (Dourados)e também na época da seca (Dourados e Aquidauana). Cada local é constituído de município e uma época de instalação. Os resultados indicaram que o gráfico triplot e joint plot, facilitam o entendimento da interação tripla e traz ao pesquisador informações mais reais sobre a interação tripla, do que a modelagem AMMI de duas entradas; o gráfico triplot, ajuda a identificar genótipos, locais e anos estáveis, dentro de um grande grupo de genótipos, locais e anos; de uma maneira geral recomenda-se, utilizar o triplot e o joint plot juntos, para obter melhores interpretações dos resultados; dentre os genótipos estudados, o genótipo 6 é o que menos contribui para a interação e o os genótipos 12, 9 e 5 são os que mais contribuem para a interação.
The present work has the following objectives: to propose a systematics for the study and the interpretation of the phenotypic stability and adaptability, through several multiway models (PARAFAC and Tucker3); to propose a graphic, called of Triplot, that it makes possible to evaluate the relations between the 3 ways (genotypes, locations and years); to implement a computational routine for the data analysis, according multiway models; to implement a computational routine for the construction of Triplot. The used data are relative the experiments with 13 genotypes of beans that had been lead in 9 experimental distinct ones constituted by agricultural years of 2000/2001, 2001/2002 and 2005/2006, by Dourados and Aquidauana cities, where the experiments had been installed at the time of waters (Dourados) and also at the time of dries (Dourados and Aquidauana). Each location is constituted of city and time of installation. The results indicated that the graphic triplot and joint plot, facilitate the agreement of triple interaction and bring to the researcher more real information about triple interaction, of what AMMI model of two way; the graphic triplot, helps to identify stabels genotypes, locations and years, inside of a great group of genotypes, location and years; in a general recommend to use triplot and joint plot together, to get better interpretations of the results; the genotype 6 is what less contributes for the triple interaction and genotypes 12, 9 and 5 are the that more contribute for the interaction.

La gorgone rouge, Paramuricea clavata (Cnidaire, Octocoralliaire), est une espèce sessile, longévive à faible croissance dont les populations présentent une lente dynamique. Cette espèce est caractérisée par une phase larvaire pélagique qui représente l’unique phase de dispersion potentielle au cours du cycle de vie de cette espèce. P. clavata est une espèce clé des assemblages à coralligène de Méditerranée, qui subit les effets combinés des activités de plongée sous-marine et du changement climatique. Dans ce contexte, il était donc fondamental d’approfondir les connaissances sur les traits d’histoire de vie, la biologie et l’écologie de cette espèce. L’objectif de ce travail était d’étudier, à l’aide d’une approche génétique, les facteurs biologiques et écologiques clés qui devraient être importants pour la réponse de l’espèce aux changements environnementaux. Parmi ces facteurs, la dispersion larvaire joue un rôle fondamental dans la dynamique et la connectivité des populations marines. Dans le contexte actuel des fortes pressions anthropiques, la compréhension des degrés de connectivité entre les populations est primordiale pour évaluer le devenir des populations, face au changement climatique, et pour mettre en place des plans de conservation et des réseaux d’aires marines protégées
The red gorgonian, Paramuricea clavata (Cnidaria, Octocorallia), is a sessile, long-lived and slow growing species which displays slow population dynamics. This species is characterized by a pelagic larval phase that represents the sole potential phase of dispersal during the life cycle of this species. P. clavata is a key species of coralligenous assemblages of the Mediterranean Sea which undergoes the combined effects of diving activities and climate change. In this context, extending the knowledge about life history traits, biology and ecology of the red gorgonian was of fundamental importance. Using a genetic approach, the goal of this work was to study some key biological and ecological factors which should be important for the response of this species to environmental changes. Among these factors, larval dispersal plays a major role in driving marine population dynamics and connectivity. In the current context of strong anthropic pressures, understanding the level of population connectivity is primordial to evaluate population outcome, facing climate change, and to develop conservation plans as well as to design marine reservenetworks

Resumo: A seleção baseada em características reprodutivas tem sido muito empregada em programas de melhoramento genético de suíno. Assim, objetivaram-se avaliar os efeitos ambientais e genéticos que influenciam o intervalo desmame-cio (IDC) e verificar sua influência no número de nascidos total (TL), nascidos vivos (NV) e mortos (NM) em fêmeas suínas. Para análise dos efeitos ambientais, utilizaram-se 8.104 dados da 1ª a 6ª ordem de parição, e, para as estimativas dos parâmetros genéticos, apenas as informações do 1º ao 3º IDC, o que resultou em 6.548 observações, que foram analisadas pelo método REML, utilizando-se modelos uni e multicaracterística. Para este último, considerou-se cada IDC (1º, 2º e 3º) como uma característica distinta. Avaliaram-se, também, as correlações genéticas entre o IDC, TL, NM e idade ao primeiro parto (IPP). Para os fatores ambientais, o modelo incluiu como efeitos fixos rebanho, linhagem, ano (AP) e estação (EP) de parto, e as covariáveis idade da porca ao parto (IDPP), TL e duração da lactação (DL). A DL, na forma linear, e a IDPP, na forma quadrática, influenciaram o IDC. Rebanho, AP e EP foram fontes de variação significativas, enquanto TL e linhagem não o foram. Não foi observada influência do IDC sobre TL, NV, nem sobre NM. A herdabilidade estimada para o IDC pelo modelo de repetibilidade foi baixa. As correlações genéticas entre os IDC (1º, 2º e 3º) foram de moderada a baixa magnitude, evidenciando que o modelo multicaracterística é mais indicado para as estimativas de parâmetro genético nessa população. As correlações genéticas entre IDC, TL e NM, assim como IDC e IPP foram favoráveis à seleção.
Abstract: Selection for reproductive traits has been largely used in swine breeding programs. The aims of this study were to evaluate environmental and genetic effects that affect the weaning-to-estrus interval (WEI) in sows and to assess their influence on litter size (LS), number of live born (LP) and dead born piglets (DP). Data consisting of 8,104 WEI from the 1st to 6th farrowing recorded in two herds were used for environmental analysis, but for estimating the genetic parameters only data from the 1st to 3rd farrowing were used, totalling 6,548 records. Genetic analysis was performed using the REML method with single and multitrait models, where each WEI was considered as a different trait. Genetic correlations among WEI, LS, DP and age at first farrowing (AFF) were also estimated using a multitrait model. For the environmental analysis, the model included as fixed effects the herd, line, and year (YF) and season (SF) of farrowing, and as covariates the sow's age at farrowing (SAF), LS, and lactation length (LL). The effects were linear for LL and quadratic for SAF. The herd, YF and SF were important sources of variation, whereas LS and line were not significant. There were no effects of WEI on the litter traits (LS, LP and DP). The heritability estimated for WEI was low, and genetic correlations among its different intervals were of moderate to low magnitude, evidencing that a multitrait model was more indicated for estimating the genetic parameters for this trait in this population. The genetic correlations between WEI and LS, DP and AFF would be favourable in a selection.
Orientador: Jeffrey Frederico Lui
Coorientadora: Lúcia Galvão de Albuquerque
Banca: Humberto Tonhati
Banca: Joslaine Noely dos Santos Gonçalves Cyrillo
Mestre

The evolution of extra-group paternity (EGP) is a contentious issue in evolutionary biology. This thesis examines the factors and adaptive benefits driving EGP in a high-density, group-living population of European badgers (Meles meles). To improve power to assign parentage, I isolated and characterised 21 new polymorphic microsatellite markers. I genotyped 83% of 1410 badger trapped 1987‒2010 using 35 autosomal microsatellite markers. Maternity and paternity were assigned at 80% confidence ca. 82% of individuals. 48% of paternities were extra-group, where 85% were attributable to neighbouring-group males and EGP was detected in 47% of litters; thus badger social group do not correspond with a breeding unit. I tested whether indirect genetic benefits explain these high EGP rates. (1) ‘Good-gene-as-heterozygosity Hypothesis’: Paternal heterozygosity, but not maternal or an individual’s own heterozygosity, associated positively with first-year survival probability. Under benign environmental conditions, cubs fathered by more heterozygous males had a higher first year survival probability. Despite this correlation, the EGP rate per litter correlated with neither average nor maximum within-group heterozygosity of candidate fathers. (2) Fitness benefit Hypothesis: Extra-group offspring (EGO) had lower first-year survival probability and lived 1.3 years less than within-group offspring (WGO). Female WGO produced more litters and offspring over their lifetime than female EGO, whereas male EGO produced more offspring than male WGO. (3) Inbreeding avoidance hypothesis: The EGP rate within a litter increased with greater average pair-wise relatedness between mothers and within-group candidate fathers. No inbreeding depression on first-year survival probability was detected, but small sample sizes limited statistical power. Socio-ecologically, at the litter level, EGP correlated negatively with the number of within-group candidate fathers, and positively with neighbouring-group candidate fathers. In conclusion, EGP in badgers may reduce inbreeding and be maintained in the population through a sex-specific antagonistic selection and indirect genetic benefits may occur when the total fitness benefits of producing extra-group sons outweigh the costs of producing extra-group daughters. These indirect genetic benefits only partially explain the evolution of promiscuity in European badgers, highlighting that evolutionary factors underlying promiscuity remain unclear.

L'étude des relations entre plusieurs ensembles de variables mesurées sur un même groupe d'individus est un défi majeur en statistique. La littérature fait référence à ce paradigme sous plusieurs termes : "analyse de données multimodales", "intégration de données", "fusion de données" ou encore "analyse de données multibloc". Ce type de problématique se retrouve dans des domaines aussi variés que la biologie, la chimie, l'analyse multi-capteurs, le marketing, la recherche agro-alimentaire, où l'objectif commun est d'identifier les variables de chaque bloc intervenant dans les intéractions entre blocs. Par ailleurs, il est possible que chaque bloc soit composé d'un très grand nombre de variables (~1M), nécessitant le calcul de milliards d'associations. L'élaboration d'un cadre statistique épousant la complexité et l'hétérogénéité des données est donc primordial pour mener une analyse pertinente.Le développement de méthodes d'analyse de données hétérogènes, potentiellement de grande dimension, est au coeur de ce travail. Ces développements se basent sur l'Analyse Canonique Généralisée Régularisée (RGCCA), un cadre général pour l'analyse de données multiblocs. Le coeur algorithmique de RGCCA se résume à un unique "update", répété jusqu'à convergence. Si cet update possède certaines "bonnes" propriétés, la convergence globale de l'algorithme est garantie. Au cours de ces travaux, le cadre algorithmique de RGCCA a été étendu dans plusieurs directions :(i) Du séquentiel au global. Plutôt que d'extraire de chaque bloc les composantes de manière séquentielle, un problème d'optimisation globale permettant de construire ces composantes simultanément a été proposé.(ii) De la matrice au tenseur. L'Analyse Canonique Généralisée Multivoie (MGCCA) étend RGCCA à l'analyse conjointe d'un ensemble de tenseurs. Des versions séquentielle et globale de MGCCA ont été proposées. La convergence globale de ces algorithmes est montrée.(iii) De la parcimonie à la parcimonie structurée. Le coeur de l'algorithme d'Analyse Canonique Généralisée Parcimonieuse (SGCCA) a été amélioré en fournissant un algorithme à convergence globale beaucoup plus rapide. Des contraintes de parcimonie structurée ont également été ajoutées à SGCCA.Dans une seconde partie, l'analyse de plusieurs jeux de données est menée à l'aide de ces nouvelles méthodes. La polyvalence des ces outils est démontrée sur (i) deux études en imagerie-génétique, (ii) deux études en électroencéphalographie ainsi (iii) qu'une étude en microscopie Raman. L'accent est mis sur l'interprétation des résultats facilitée par la prise en compte des structures multiblocs, tensorielles et/ou parcimonieuses
A challenging problem in multivariate statistics is to study relationships between several sets of variables measured on the same set of individuals. In the literature, this paradigm can be stated under several names as “learning from multimodal data”, “data integration”, “data fusion” or “multiblock data analysis”. Typical examples are found in a large variety of fields such as biology, chemistry, sensory analysis, marketing, food research, where the common general objective is to identify variables of each block that are active in the relationships with other blocks. Moreover, each block can be composed of a high number of measurements (~1M), which involves the computation of billion(s) of associations. A successful investigation of such a dataset requires developing a computational and statistical framework that fits both the peculiar structure of the data as well as its heterogeneous nature.The development of multivariate statistical methods constitutes the core of this work. All these developments find their foundations on Regularized Generalized Canonical Correlation Analysis (RGCCA), a flexible framework for multiblock data analysis that grasps in a single optimization problem many well known multiblock methods. The RGCCA algorithm consists in a single yet very simple update repeated until convergence. If this update is gifted with certain conditions, the global convergence of the procedure is guaranteed. Throughout this work, the optimization framework of RGCCA has been extended in several directions:(i) From sequential to global. We extend RGCCA from a sequential procedure to a global one by extracting all the block components simultaneously with a single optimization problem.(ii) From matrix to higher order tensors. Multiway Generalized Canonical Correlation Analysis (MGCCA) has been proposed as an extension of RGCCA to higher order tensors. Sequential and global strategies have been designed for extracting several components per block. The different variants of the MGCCA algorithm are globally convergent under mild conditions.(iii) From sparsity to structured sparsity. The core of the Sparse Generalized Canonical Correlation Analysis (SGCCA) algorithm has been improved. It provides a much faster globally convergent algorithm. SGCCA has been extended to handle structured sparse penalties.In the second part, the versatility and usefulness of the proposed methods have been investigated on various studies: (i) two imaging-genetic studies, (ii) two Electroencephalography studies and (iii) one Raman Microscopy study. For these analyses, the focus is made on the interpretation of the results eased by considering explicitly the multiblock, tensor and sparse structures

Os objetivos deste trabalho foram estimar as associações genéticas entre características de crescimento e produção de leite, utilizando análises bicaracterísticas, e entre características de crescimento, perímetro escrotal e idade ao primeiro parto utilizando modelos de regressão aleatória, de animais da raça Guzerá. Para as análises bicaracterísticas foram utilizadas 252.257 informações de pesos de machos e fêmeas aos 120 dias (P120), ao desmame (PD), ao ano (P365), ao sobreano (PSOBRE) aos 24 meses de idade (P24) e 6.493 lactações encerradas (P305), pertencentes a 4.723 vacas, e os modelos incluíram como os efeitos aleatórios o genético aditivo direto, de ambiente permanente materno e residual, e como efeitos fixos os grupos de contemporâneos e a idade da vaca ao parto (efeito linear e quadrático). Para as análises com os modelos de regressão aleatória foram utilizadas 159.366 observações de pesos e 23.780 de perímetro escrotal, realizadas entre 335 e 724 dias de idade dos animais e agrupadas em classes com intervalo de 10 dias, e 63.596 observações de idade ao primeiro parto. Os efeitos aleatórios considerados foram o genético aditivo direto, de ambiente permanente e residual e como efeitos fixos os grupos de contemporâneos, a idade da vaca ao parto (efeito linear e quadrático) e a curva fixa para modelar a tendência média da população (quadrática) sobre as classes de idade. Foram testados quatro possíveis graus de polinômios de Legendre (zero, linear, quadrático e cúbico), sendo o quadrático mais adequado para descrever as variâncias das características analisadas. Para verificar a existência de diferentes padrões de crescimento e agrupar os touros com base nos seus valores genéticos para produção de carne, leite e duplo propósito, foram realizadas análises de componentes principais e de agrupamento. As herdabilidades estimadas foram 0,23; 0,14; 0,16; 0,17; 021 e 0,22 para P305, P120, PD, P365, PSOBRE e P24, respectivamente, sugerindo que para as características de pesos, as herdabilidades aumentam com o aumento da idade dos animais. Mesma tendência foi observada pelas análises de regressão aleatória, cujas herdabilidades variaram de 0,17 a 0,31. As correlações genéticas entre os pesos em diferentes idades e a produção de leite foram positivas e de magnitude moderada a baixa, variando de 0,27 a 0,38 sugerindo que a seleção para peso e P305 possa ser realizada de forma simultânea nos mesmos animais. As análises de componentes principais indicaram a mesma tendência observada pelas correlações genéticas. As análises de agrupamento mostraram que a raça Guzerá possui touros com diferentes perfis genéticos, sendo possível realizar a seleção para corte, leite ou duplo propósito. As correlações genéticas entre os pesos e perímetro escrotal foram positivas e favoráveis, variando de 0,31 a 0,47, indicando que a seleção para aumento do peso poderá resultar em animais com maior perímetro escrotal. As correlações entre peso e idade ao primeiro parto variaram de -0,56 a -0,38 e perímetro escrotal e idade ao primeiro parto variaram de -0,55 a 0,08, sugerindo que a redução da idade ao primeiro parto poderá ocorrer, a longo prazo, quando peso e perímetro escrotal forem objetivos de seleção. A eficiência relativa de seleção indicou maior resposta pela seleção indireta para idade ao primeiro parto, quando realizada a seleção para perímetro escrotal a partir dos 615 dias de idade, quando comparada com o ganho genético direto para idade ao primeiro parto.
The objectives of this study were to estimate the genetic associations between growth and milk production traits in Guzerat cattle using two-trait analysis and between growth traits, scrotal circumference and age at first calving using random regression models. For two-trait analysis, 252,257 weight records of males and females obtained at 120 days of age (W120), weaning (WW), yearling (YW), post-weaning (PWW) and 24 months of age (W24), as well as 6,493 complete lactation records (W305) of 4,723 cows, were used. The models included direct additive genetic, maternal permanent environmental and residual effects as random effects, and the contemporary groups and age of cow at calving (linear and quadratic effect) as fixed effects. For the random regression models, 159,366 observations of weight and 23,780 observations of scrotal circumference, obtained at 335 and 724 days of age of the animals and divided into classes at 10-day intervals, as well as 63,596 observations of age at first calving, were used. Random direct additive genetic, permanent environmental and residual effects and the fixed effects of contemporary group and age of cow at calving (linear and quadratic effect) were considered. A fixed curve was used to model the average trend of the population (quadratic) on the age classes. Four possible degrees of Legendre polynomials (zero, linear, quadratic and cubic) were tested and the quadratic polynomial was the most appropriate to describe the variances in the traits analyzed. Principal component and cluster analyses were performed to determine the existence of different growth patterns and to group bulls based on their breeding values for meat, milk and dual-purpose production. The estimated heritabilities were 0.23, 0.14, 0.16, 0.17, 0.21 and 0.22 for W305, W120, WW, YW, PWW and W24, respectively, suggesting that, for the growth traits, heritabilities increased with increasing age of the animals. The same trend was observed when random regression analysis was performed, with heritabilities ranging from 0.17 to 0.31. The genetic correlations between weights at different ages and milk yield were positive and of moderate to low magnitude, ranging from 0.27 to 0.38. These estimates suggest that selection for weight and W305 can be performed simultaneously in the same animals. Principal component analysis indicated the same trend as observed by the genetic correlations. Cluster analysis showed the presence of bulls with different genetic profiles in the Guzerat breed, thus permitting selection for meat, milk or dual purpose. The genetic correlations between weights and scrotal circumference were positive and favorable (0.31 to 0.47), indicating that selection for increased weight will result in animals with greater scrotal circumference. The correlations between weights and age at first calving ranged from -0.56 to -0.38 and between scrotal circumference and age at first calving from -0.55 to 0.08, suggesting that the use of weight and scrotal circumference as selection objectives will result in the long-term reduction of age at first calving. The relative efficiency of selection indicated a greater response to indirect selection for age at first calving when selecting for scrotal circumference after 615 days of age, compared to the genetic gain obtained by direct selection for age at first calving.

L'imagerie cérébrale connaît un intérêt grandissant, en tant que phénotype intermédiaire, dans la compréhension du chemin complexe qui relie les gènes à un phénotype comportemental ou clinique. Dans ce contexte, un premier objectif est de proposer des méthodes capables d'identifier la part de variabilité génétique qui explique une certaine part de la variabilité observée en neuroimagerie. Les approches univariées classiques ignorent les effets conjoints qui peuvent exister entre plusieurs gènes ou les covariations potentielles entre régions cérébrales.Notre première contribution a été de chercher à améliorer la sensibilité de l'approche univariée en tirant avantage de la nature multivariée des données génétiques, au niveau local. En effet, nous adaptons l'inférence au niveau du cluster en neuroimagerie à des données de polymorphismes d'un seul nucléotide (SNP), en cherchant des clusters 1D de SNPs adjacents associés à un même phénotype d'imagerie. Ensuite, nous prolongeons cette idée et combinons les clusters de voxels avec les clusters de SNPs, en utilisant un test simple au niveau du "cluster 4D", qui détecte conjointement des régions cérébrale et génomique fortement associées. Nous obtenons des résultats préliminaires prometteurs, tant sur données simulées que sur données réelles.Notre deuxième contribution a été d'utiliser des méthodes multivariées exploratoires pour améliorer la puissance de détection des études d'imagerie génétique, en modélisant la nature multivariée potentielle des associations, à plus longue échelle, tant du point de vue de l'imagerie que de la génétique. La régression Partial Least Squares et l'analyse canonique ont été récemment proposées pour l'analyse de données génétiques et transcriptomiques. Nous proposons ici de transposer cette idée à l'analyse de données de génétique et d'imagerie. De plus, nous étudions différentes stratégies de régularisation et de réduction de dimension, combinées avec la PLS ou l'analyse canonique, afin de faire face au phénomène de sur-apprentissage dû aux très grandes dimensions des données. Nous proposons une étude comparative de ces différentes stratégies, sur des données simulées et des données réelles d'IRM fonctionnelle et de SNPs. Le filtrage univarié semble nécessaire. Cependant, c'est la combinaison du filtrage univarié et de la PLS régularisée L1 qui permet de détecter une association généralisable et significative sur les données réelles, ce qui suggère que la découverte d'associations en imagerie génétique nécessite une approche multivariée
Brain imaging is increasingly recognised as an interesting intermediate phenotype to understand the complex path between genetics and behavioural or clinical phenotypes. In this context, a first goal is to propose methods to identify the part of genetic variability that explains some neuroimaging variability. Classical univariate approaches often ignore the potential joint effects that may exist between genes or the potential covariations between brain regions. Our first contribution is to improve the sensitivity of the univariate approach by taking advantage of the multivariate nature of the genetic data in a local way. Indeed, we adapt cluster-inference techniques from neuroimaging to Single Nucleotide Polymorphism (SNP) data, by looking for 1D clusters of adjacent SNPs associated with the same imaging phenotype. Then, we push further the concept of clusters and we combined voxel clusters and SNP clusters, by using a simple 4D cluster test that detects conjointly brain and genome regions with high associations. We obtain promising preliminary results on both simulated and real datasets .Our second contribution is to investigate exploratory multivariate methods to increase the detection power of imaging genetics studies, by accounting for the potential multivariate nature of the associations, at a longer range, on both the imaging and the genetics sides. Recently, Partial Least Squares (PLS) regression or Canonical Correlation Analysis (CCA) have been proposed to analyse genetic and transcriptomic data. Here, we propose to transpose this idea to the genetics vs. imaging context. Moreover, we investigate the use of different strategies of regularisation and dimension reduction techniques combined with PLS or CCA, to face the overfitting issues due to the very high dimensionality of the data. We propose a comparison study of the different strategies on both a simulated dataset and a real fMRI and SNP dataset. Univariate selection appears to be necessary to reduce the dimensionality. However, the generalisable and significant association uncovered on the real dataset by the two-step approach combining univariate filtering and L1-regularised PLS suggests that discovering meaningful imaging genetics associations calls for a multivariate approach

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
Common bean cultivars development with high nutritional quality joined with grain yield is desirable. In consequence, of this study evaluated the genitors, F1 and its reciprocals, F2 and backcrosses populations obtained in the combination among four genitors. For protein content were used TPS Nobre, Guapo Brilhante, BRS Expedito and UTF-1 Balisa. For fibers content, CNFP 8100, FT 96-1282, Valente and Varre Sai were used. The crossings were performed inside a greenhouse using complete diallel approach and assessed in the field using a randomized complete block design with two replications. The laboratory analyses were realized to protein and dietary fiber content. Negative phenotypic correlation between protein content and grain yield was observed. The crossings between the high protein content genitors produced F2 populations with high protein content. Genetic variability was observed for genitors, F1 s and their reciprocals for dietary fiber content. The largest heritability estimates were obtained for fibers content and the smallest for grain yield. Phenotypic correlation between dietary fiber, their different fractions (soluble and insoluble) and grain yield was not observed. Phenotypic correlation between fiber insoluble and dietary fiber content was positive, wile between soluble and insoluble fiber was negative. In the populations studied, the selection for protein content and fibers associated with high grain yield could be performed with success as long as we have better understanding of the genetic control, environmental effect and genotype x environment interaction that influence these characteristics.
O desenvolvimento de cultivares de feijão com alta qualidade nutricional aliado ao alto rendimento de grãos é desejável. Como conseqüência, este trabalho buscou avaliar os genitores e as populações F1 , recíprocos, F2 e retrocruzamentos obtidos das combinações entre quatro genitores para o teor de proteína (TPS Nobre, Guapo Brilhante, BRS Expedito e UTF-1 Balisa) e de quatro genitores para o teor de fibras (CNFP 8100, FT 96-1282, Valente e Varre Sai). Os cruzamentos foram realizados em casa-de-vegetação, segundo a metodologia de dialelos completos, e avaliados a campo utilizando o delineamento experimental de blocos ao acaso com duas repetições. As análises laboratoriais foram realizadas quanto aos teores de proteína bruta e fibra alimentar. Correlação fenotípica negativa entre proteína bruta e rendimento de grãos foi observada. Hibridações controladas entre genitores com alto teor de proteína, possibilitaram a obtenção de populações F2 com alto teor protéico. Foi encontrada variabilidade genética para teor de fibra alimentar para genitores, F1 s e recíprocos. As maiores estimativas de herdabilidade foram observadas para teor de fibras e as menores para rendimento de grãos. Não foi encontrada correlação fenotípica entre fibra alimentar, suas diferentes frações (solúvel e insolúvel) e rendimento de grãos. As correlações fenotípicas entre o teor de fibra insolúvel e de fibra alimentar foram positivas, enquanto que entre fibra solúvel e insolúvel foram negativas. Nas populações estudadas, a seleção para teor de proteína e de fibras associadas ao elevado rendimento de grãos poderá ser realizada com sucesso, desde que se tenha melhor entendimento do controle genético, dos efeitos ambientais e da interação genótipo x ambiente que atuam nessas características.

This biomedical engineering thesis explores the opportunities and challenges of 2D+t contrast echocardiography for left ventricle functional analysis, both clinically and within a computer vision atlas-based deformable template model framework. A database was created for the experiments in this thesis, with 21 studies of contrast Dobutamine Stress Echo, in all 4 principal planes. The database includes clinical variables, human expert hand-traced myocardial contours and visual scoring. First the problem is studied from a clinical perspective. Quantification of endocardial global and local function using standard measures shows expected values and agreement with human expert visual scoring, but the results are less reliable for myocardial thickening. Next, the problem of segmenting the endocardium with a computer is posed in a standard landmark and atlas-based deformable template model framework. The underlying assumption is that these models can emulate human experts in terms of integrating previous knowledge about the anatomy and physiology with three sources of information from the image: texture, geometry and kinetics. Probabilistic atlases of contrast echocardiography are computed, while noting from histograms at selected anatomical locations that modelling texture with just mean intensity values may be too naive. Intensity analysis together with the clinical results above suggest that lack of external boundary definition may preclude this imaging technique for appropriate measuring of myocardial thickening, while endocardial boundary definition is appropriate for evaluation of wall motion. Geometry is presented in a Principal Component Analysis (PCA) context, highlighting issues about Gaussianity, the correlation and covariance matrices with respect to physiology, and analysing different measures of dimensionality. A popular extension of deformable models ---Active Appearance Models (AAMs)--- is then studied in depth. Contrary to common wisdom, it is contended that using a PCA texture space instead of a fixed atlas is detrimental to segmentation, and that PCA models are not convenient for texture modelling. To integrate kinetics, a novel spatio-temporal model of cardiac contours is proposed. The new explicit model does not require frame interpolation, and it is compared to previous implicit models in terms of approximation error when the shape vector changes from frame to frame or remains constant throughout the cardiac cycle. Finally, the 2D+t atlas-based deformable model segmentation problem is formulated and solved with a gradient descent approach. Experiments using the similarity transformation suggest that segmentation of the whole cardiac volume outperforms segmentation of individual frames. A relatively new approach ---the inverse compositional algorithm--- is shown to decrease running times of the classic Lucas-Kanade algorithm by a factor of 20 to 25, to values that are within real-time processing reach.

碩士
長榮大學
醫學研究所
96
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac heart defects, and skeletal malformations. In approximately 50% of cases, it is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain function of the protein SHP-2 (src homology region 2-domain phosphatase-2). In this study, we used NS scoring system developed by van der Burgt et al. in 1994 as diagnostic criteria for our cases. PTPN11 mutation analysis was performed in six NS patients and mutations were found in five of them. Two were in exon 3 and one was in exon 8 and the others was in exon 12. All mutations were missense changes and clustered at the interacting portions of the amino-terminal src-homology 2 (N-SH2: exon 1-3) and protein tyrosine phosphatase (PTP: exon 7-13) domain. Three of them are sporadic and the other is familial NS. No mutation was found in the C-SH2 domain. Patients with NS carried the 922A?蛄 (Asn308Asp) has mild mental retardation. Patient with NS carried the 182 A→G (Asp61Gly) has classic NS symptoms with failure to thrive. Patient with NS carried the 1403C?? T (Thr468Met) has dominant hypertrophic cardiomyopathy. Simultaneously, we find this mutation site is the hot spot of LEOPARD syndrome. Tracing his clinical symptom, the café-au-lait spots developed recent one year and confirme the final diagnosis of LOEPARD syndrome. Patients with NS carried the mutation 218C?袍 (Thr73Ile) has also suffered form juvenile myelomonocytic leukemia (JMML). Unlike the previous studies, her prognosis is very poor and life threatening infection respiratory and heart failure developed shortly after delivery. The correlation between NS and JMML can be explained by the involvement of SHP-2 in RAS-signaling. Our study is to analyze of the PTPN11 gene and it’s correlation with Noonan syndrome. Because the PTPN11 gene mutatin affect the RAS-MAPKinase pathway signalling. The signaling cascade regulates cell proliferation, differentiation and survival. Disturbed RAS signaling in maliganacies is caused by acquired somatic mutations in RAS genes or other compoments of this pathway. Recently, germline mutations in genes coding for different components of the RAS signaling cascade have been recognized as the cause of several phenotypically overlapping disorders, and referred to as the neuro-cardio-facial- cutaneous dyndromes. Neurofibromatosis type 1, Noonan syndrome, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, congenital heart defects, facial dsymophism, short stature, skin abnormalities and a predisposition for malignancy. Dysregulation of the RAS-MAPKinase pathway is caused by germline mutations in genes involved in this pathway. Undoubtedly more genes causing related syndromes will be discovered in the near future since there are still a substantial number of genes in the pathway that are not yet associated with a known syndrome. And more mechanisms associated with RAS-MAPKinase signaling and the malignancy is an important challenge need to be clarify in the future.

Many human neurological and psychiatric disorders are substantially heritable and there is growing inter-est in searching for genetic variants explaining variability in disease-induced alterations of brain anatomy and function, as measured using neuroimaging techniques. The standard analysis approach in genetic neuroimaging is the mass-univariate linear modeling approach, which is disadvantageous, since it cannot account for dependencies among collinear variables and has to be corrected for multiple testing. In con-trast, multivariate methods include combined information from multiple variants simultaneously into the analysis, and can therefore account for the correlation structure in both the neuroimaging and the genetic data. Partial Least Squares Analysis and Canonical Correlation Analysis are common multivariate ap-proaches and different variants have been established for genetic neuroimaging. However, a compre-hensive comparison with respect to data characteristics and strengths and weaknesses of these methods was missing to date. This thesis elaborately compared three multivariate techniques, Sparse Canonical Correlation Analysis (Sparse CCA), Bayesian Inter-Battery Factor Analysis (Bayesian IBFA) and Partial Least Squares Corre-lation (PLSC) in order to express a clear statement on which method in to choose for analysis in genetic neuroimaging. It was shown that for highly collinear neuroimaging data, Bayesian IBFA could not be recommended, since additional post-processing steps were required to differentiate between causal and non-informative components. In contrast, Sparse CCA and PLSC were suitable for genetic neuroimaging data. Among the two, the use of Sparse CCA was recommended in situations with relatively low-dimensional neuroimaging and genetic data, since its predictive power was higher when data dimension-ality was below 400 times sample size. For higher dimensionalities, the predictive power of PLSC ex-ceeded that of Sparse CCA. Thus, for multivariate modeling of high-dimensional neuroimaging-genetics-associations, a preference for the usage of PLSC was indicated. The remainder of this thesis dealt with the improvement of the computational efficiency of multivariate statistics in genetic neuroimaging, since it can be expected that there will be a growth in cost- and time-efficient DNA sequencing as well as neuroimaging techniques in the coming years, which will result in excessively long computation times due to increasing data dimensionality. To accommodate this large number of variables, a new and computational efficient statistical approach named PLSC-RP was pro-posed, which incorporates a method for dimensionality reduction named Random projection (RP) into traditional PLSC in order to represent the originally high-dimensional data in lower dimensional spaces. Subsequently, PLSC is used for multivariate analysis of compressed data sets. Finally, the results are transformed back to the original spaces to enable the interpretation of original variables. It was demon-strated that the usage of PLSC-RP reduced computation times from hours to seconds compared to its state-of-the-art counterpart PLSC. Nonetheless, the accuracy of the results was not impaired, since the results of PLSC-RP and PLSC were statistically equivalent. Furthermore, PLSC-RP could be used for inte-grative analysis of data sets containing high-dimensional neuroimaging data, high-dimensional genetic data or both, and was therefore shown to be independent of the statistical data type. Thus, PLSC-RP opens up a wide range of possible applications.

碩士
大葉大學
工業工程與科技管理學系
96
The purpose of this research is to explore the relationship between teaching and learning performance and educational goal of a department for fulfillment of Institute of Engineering Education Taiwan. This research applies the nonlinear canonical correlation analysis ( NLCCA ) incorporated with the Cobb-Douglas function to analyze the relationships among four latent traits: curriculum design, learning achievements, the satisfaction of teachers and achieves of the central ability of students. The solving procedure was implemented by the genetic algorithm in order to reduce the complexity of finding solutions. The results were also compared with the results obtaining from using traditional linear canonical correlation analysis. The results shows that using nonlinear canonical correlation analysis is a robust approach to analyze educational accreditation data .

High throughput technologies such as microarrays and modern genome sequencers produce enormous amounts of data that require novel data processing. This thesis proposes a method called Interdependent Correlation Cluster (ICC) to analyze the relations between genes represented by microarray data that are conditioned on a specific target gene. Based on Correlation Clustering, the proposed method analyzes a large set of correlation values related to the gene expression profiles extracted from given microarray datasets. The proposed method works on any size microarray datasets and could be applied to any target gene. In this study the selected target gene, NSF1 /USV1 / YPL230W, encodes a poorly characterized C2H2 zinc finger transcription factor (TF) involved in stress responses in yeast. The method is successful in the identification of novel NSF1 functional roles during fermentation stress conditions in the M2 industrial yeast strain. The new identified functions include regulation of energy and sulfur metabolism, protein synthesis, ribosomal assembly and protein trafficking as well as other processes. NSF1 involvement in sulfur metabolism was experimentally confirmed using biological laboratory techniques. Importantly, implication of NSF1 in sulfur metabolism regulation has highly relevant implications to wine and beer production industries concerned with production of compounds having sulfur-like off odour (SLO) and toxic properties. The correlation clustering also provides a means of understanding complex interactions existing between genes.
The pdf file contains numerous hyperlinks and bookmarks to facilitate navigation. This thesis will be of interest to those working with topics such as data mining of microarray data, novel gene function discovery and prediction, and genome-wide responses to fermentation stresses.
Ministry of Training, Colleges and Universities of Ontario (Ontario Graduate Scholarship and Ontario Graduate Scholarships in Science and Technology); The Natural Sciences and Engineering Research Council of Canada (NSERC)

Within the last few decades, swine breeding programs have been refined to include pork quality and novel carcass traits alongside growth, feed efficiency, and carcass leanness in the selection programs for terminal sire lines with a goal to produce high quality and efficient pork product for consumers. In order to accurately select for multiple traits at once, it becomes imperative to explore their genetic and biological architecture. The genetic architecture of traits can be explored through the estimation of genetic parameters, genome-wide association studies (GWAS), gene networks and metabolic pathways. An alternative approach to explore the genetic and biological connection between traits is based on principal component analysis (PCA), which generates novel “pseudo-phenotypes” and biological types (biotypes). In this context, the main objective of this thesis was to understand the genetic and biological relationship between three growth, eight conventional carcass, 10 pork quality, and 18 novel carcass traits included in two studies. The phenotypic data set included 2,583 records from female Duroc pigs from a terminal sire line. The pedigree file contained 193,764 animals and the genotype file included 21,344 animals with 35,651 single nucleotide polymorphisms (SNPs). The results of the first study indicate that genetic progress can be achieved for all 39 traits. In general, the heritability estimates were moderate, while most genetic correlations were generally moderate to high and favorable. Some antagonisms were observed but those genetic correlations were low to moderate in nature. Thus, these relationships can be considered when developing selection indexes. The second study showed that there are strong links between traits through their principal components (PCs). The main PCs identified are linked to biotypes related to growth, muscle and fat deposition, pork color, and body composition. The PCs were also used as pseudo-phenotypes in the GWAS analysis, which identified important candidate genes and metabolic pathways linked to each biotype. All of this evidence links valuable variables such as belly, color, marbling, and leanness traits. Our findings greatly contribute to the optimization of genetic and genomic selection for the inclusion of valuable and novel traits to improve productive efficiency, novel carcass, and meat quality traits in terminal sire lines.

Understanding the events and processes responsible for patterns of within species diversity, provides insight into major evolutionary themes like adaptation, species distributions, and ultimately speciation itself. Here, I combine ecological, genetic and spatial perspectives to evaluate the roles that both historical and contemporary factors have played in shaping the population structure and genetic variation of foxsnakes (Pantherophis gloydi). First, I determine the likely impact of habitat loss on population distribution, through radio-telemetry (32 individuals) at two locations varying in habitat patch size. As predicted, individuals had similar habitat use patterns, but restricted movements to patches of suitable habitat at the more disturbed site. Also, occurrence records spread across a fragmented region were non-randomly distributed and located close to patches of usable habitat, suggesting habitat distribution limits population distribution. Next, I combined habitat suitability modeling with population genetics (589 individuals, 12 microsatellite loci) to infer how foxsnakes disperse through a mosaic of natural and altered landscape features. Boundary regions between genetic clusters were comprised of low suitability habitat (e.g. agricultural fields). Island populations were grouped into a single genetic cluster suggesting open water presents less of a barrier than non-suitable terrestrial habitat. Isolation by distance models had a stronger correlation with genetic data when including resistance values derived from habitat suitability maps, suggesting habitat degradation limits dispersal for foxsnakes. At larger temporal and spatial scales I quantified patterns of genetic diversity and population structure using mitochondrial (101 cytochrome b sequences) and microsatellite (816 individuals, 12 loci) DNA and used Approximate Bayesian computation to test competing models of demographic history. Supporting my predictions, I found models with populations which have undergone population size drops and splitting events continually had more support than models with small founding populations expanding to stable populations. Based on timing, the most likely cause was the cooling of temperatures and infilling of deciduous forest since the Hypisthermal. On a smaller scale, evidence suggested anthropogenic habitat loss has caused further decline and fragmentation. Mitochondrial DNA structure did not correspond to fragmented populations and the majority of foxsnakes had an identical haplotype, suggesting a past bottleneck or selective sweep.
Thesis (Ph.D, Biology) -- Queen's University, 2011-01-11 10:40:52.476

The goal of this thesis is to algorithmically identify candidate modifiers for retinitis pigmentosa (RP) to help improve therapy and predictions for this genetic disorder that may lead to a complete loss of vision. A current research by (Chow et al., 2016) focused on the genetic contributors to RP by trying to recognize a correlation between genetic modifiers and phenotypic variation in female Drosophila melanogaster, or fruit flies. In comparison to the genome-wide association analysis carried out in Chow et al.’s research, this study proposes using a K-Means clustering algorithm on RNA expression data to better understand which genes best exhibit characteristics of the RP degenerative model. Validating this algorithm’s effectiveness in identifying suspected genes takes priority over their classification.

This study investigates the linear relationship between Drosophila eye size and genetic expression to gather statistically significant, strongly correlated genes from the clusters with abnormally high or low eye sizes. The clustering algorithm is implemented in the R scripting language, and supplemental information details the steps of this computational process. Running the mean eye size and genetic expression data of 18,140 female Drosophila genes and 171 strains through the proposed algorithm in its four variations helped identify 140 suspected candidate modifiers for retinal degeneration. Although none of the top candidate genes found in this study matched Chow’s candidates, they were all statistically significant and strongly correlated, with several showing links to RP. These results may continue to improve as more of the 140 suspected genes are annotated using identical or comparative approaches.

Popcorn is the most popular snack food in the world. Genetic diversity is of major concern in popcorn breeding. High genetic diversity allows manipulation of different genotypes to breed new varieties. There is very little published work on popcorn production in Sub-Saharan Africa primarily in South Africa. Popcorn production in South Africa could be hampered by the lack of superior and adapted varieties with large genetic base, good popping ability and high yield. Studies relating popping expansion volume and grain yield are of fundamental importance for popcorn improvement, but they are limited. Furthermore, there is limited number of studies regarding popcorn genetic diversity among locally developed popcorn varieties. The objectives of the study were; (i) to investigate genetic variability among the popcorn inbred lines, (ii) to study the magnitude of genetic diversity among the popcorn inbred lines, (iii) to establish the relationship between popping ability and seed yield, and with secondary traits, and (iv) to evaluate the effect of popping methods on popping ability of different popcorn inbred lines. Two populations designated as Population 1 and Population 2 with 83 and 81 inbred lines, respectively, were used in the study.On the study of the appraisal of popping methods, the highest popping expansion volume (cm³) and less number of unpopped kernels were obtained from hot air popping than in the microwave popping method. The study revealed that hot air popping method is more effective and efficient in discriminating popping ability of the inbred lines. The study further revealed that the two methods rank genotypes differently. The presence of genotype × popping method interaction resulted in three different groups. (i) Genotype adaptation across methods, (ii) specific adaptation to microwave popping, and (iii) specific adaptation to hot air popping method. Hence, when breeders evaluate popping ability of different genotypes, they should consider the method, depending on the way consumers will do the popping. The study of relationship between traits showed that popping expansion volume and seed yield was positively and significantly correlated. Nevertheless, the relationship between seed yield and popping expansion volume was weak. Popping expansion volume was negatively and weakly correlated with most secondary traits except kernel aspect and number of unpopped kernels. The direct effects of kernel aspect score on popping expansion volume were large and negative. Other traits showed small direct and indirect effects on popping expansion volume. Traits including days to anthesis, ear prolificacy and ear aspect exhibited large direct effects on seed yield. Indirect and direct effects of other traits on seed yield were small. Relationship among several secondary traits was small. The results obtained showed that selection for high seed yield will not negatively impact popping expansion volume and vice versa, therefore, popping expansion volume and seed yield can be improved concurrently. Overall, indirect effects of secondary traits on seed yield and popping expansion volume were small; this supported the focus on direct selection of these traits to improve seed yield and popping ability. Based on the study of genetic diversity and variability, inbred lines showed large genetic variation and high heritability for 18 traits. Phenotypic and genetic coefficient of variation was high in seven and six traits, respectively. A large percentage of genetic advance was recorded in 11 traits. Dendogram derived from phenotypic data grouped the inbred lines into four to seven clusters depending on heritability. Dendogram produced from 22 SSR markers grouped inbred lines into five clusters. Overall, the study showed that, maximum popping ability of inbred lines is dependent on the method used. Simultaneous improvement of seed yield and popping expansion volume is possible through selection of inbred lines combining both high popping expansion volume and seed yield. Improvement of the two traits should be based on selection for traits with large direct effects. The magnitude of genetic diversity among the inbred lines was large; therefore, distant inbred lines can be selected as parents and crossed to develop new varieties that are locally adapted. Above all, the results have implications for the methods which would be used to process popcorn by consumers especially in developing rural communities.
Thesis (M.Sc.Agric.)-University of KwaZulu-Natal, Pietermaritzburg, 2012.

Aminoacyl-tRNA synthetases (aaRSs) are at the center of the question of the origin of life and are essential proteins found in all living organisms. AARSs arose early in evolution to interpret genetic code and are believed to be a group of ancient proteins. They constitute a family of enzymes integrating the two levels of cellular organization: nucleic acids and proteins. These enzymes ensure the fidelity of transfer of genetic information from the DNA to the protein. They are responsible for attaching amino acid residues to their cognate tRNA molecules by virtue of matching the nucleotide triplet, which is the first step in the protein synthesis. The translation of genetic code into protein sequence is mediated by tRNA, which accurately picks up the cognate amino acids. The attachment of the cognate amino acid to tRNA is catalyzed by aaRSs, which have binding sites for the anticodon region of tRNA and for the amino acid to be attached. The two binding sites are separated by ≈ 76 Å and experiments have shown that the communication does not go through tRNA (Gale et al., 1996). The problem addressed here is how the information of binding of tRNA anticodon near the anticodon binding site is communicated to the active site through the protein structure. These enzymes are modular with distinct domains on which extensive kinetic and mutational experiments and supported by structural data are available, highlighting the role of inter-domain communication (Alexander and Schimmel, 2001). Hence these proteins present themselves as excellent systems for in-silico studies. Various methods involved for the construction of protein structure networks are well established and analyzed in a variety of ways to gain insights into different aspects of protein structure, stability and function (Kannan and Vishveshwara, 1999; Brinda and Vishveshwara, 2005). In the present study, we have incorporated network parameters for the analysis of molecular dynamics (MD) simulation data, representing the global dynamic behavior of protein in a more elegant way. MD simulations have been performed on the available (and modeled) structures of aaRSs bound to a variety of ligands, and the protein structure networks (PSN) of non-covalent interactions have been characterized in dynamical equilibrium. The changes in the structure networks are used to understand the mode of communication, and the paths between the two sites of interest identified by the analysis of the shortest path. The allosteric concept has played a key role in understanding the biological functions of aaRSs. The rigidity/plasticity and the conformational population are the two important ideas invoked in explaining the allosteric effect. We have explored the conformational changes in the complexes of aaRSs through novel parameters such as cliques and communities (Palla et al., 2005), which identify the rigid regions in the protein structure networks (PSNs) constructed from the non-covalent interactions of amino acid side chains. The thesis consists of 7 chapters. The first chapter constitutes the survey of the literature and also provides suitable background for this study. The aims of the thesis are presented in this chapter. Chapter 2 describes various techniques employed and the new techniques developed for the analysis of PSNs. It includes a brief description of well -known methods of molecular dynamics simulations, essential dynamics, and cross correlation maps. The method used for the construction of graphs and networks is also described in detail. The incorporation of network parameters for the analysis of MD simulation data are done for the first time and has been applied on a well studied protein lysozyme, as described in chapter 3. Chapter 3 focuses on the dynamical behavior of protein structure networks, examined by considering the example of T4-lysozyme. The equilibrium dynamics and the process of unfolding are followed by simulating the protein with explicit water molecules at 300K and at higher temperatures (400K, 500K) respectively. Three simulations of 10ns duration have been performed at 500K to ensure the validity of the results. The snapshots of the protein structure from the simulations are represented as Protein Structure Networks (PSN) of non-covalent interactions. The strength of the non-covalent interaction is evaluated and used as an important criterion in the construction of edges. The profiles of the network parameters such as the degree distribution and the size of the largest cluster (giant component) have been examined as a function of interaction strength (Ghosh et al., 2007). We observe a critical strength of interaction (Icritical) at which there is a transition in the size of the largest cluster. Although the transition profiles at all temperatures show behavior similar to those found in the crystal structures, the 500K simulations show that the non-native structures have lower Icritical values. Based on the interactions evaluated at Icritical value, the folding/unfolding transition region has been identified from the 500K simulation trajectories. Furthermore, the residues in the largest cluster obtained at interaction strength higher than Icritical have been identified to be important for folding. Thus, the compositions of the top largest clusters in the 500K simulations have been monitored to understand the dynamical processes such as folding/unfolding and domain formation/disruption. The results correlate well with experimental findings. In addition, the highly connected residues in the network have been identified from the 300K and 400K simulations and have been correlated with the protein stability as determined from mutation experiments. Based on these analyses, certain residues, on which experimental data is not available, have been predicted to be important for the folding and the stability of the protein. The method can also be employed as a valuable tool in the analysis of MD simulation data, since it captures the details at a global level, which may elude conventional pair-wise interaction analysis. After standardizing the concept of dynamical network analysis using Lysozyme, it was applied to our system of interest, the aaRSs. The investigations carried out on Methionyl-tRNA synthetases (MetRS) are presented in chapter 4. This chapter is divided into three parts: Chapter 4A deals with the introduction to aminoacyl tRNA synthetases (aaRS). Classification and functional insights of aaRSs obtained through various studies are presented. Chapter 4B is again divided into parts: BI and BII. Chapter 4BI elucidates a new technique developed for finding communication pathways essential for proper functioning of aaRS. The enzymes of the family of tRNA synthetases perform their functions with high precision, by synchronously recognizing the anticodon region and the amino acylation region, which is separated by about 70Å in space. This precision in function is brought about by establishing good communication paths between the two regions. We have modelled the structure of E.coli Methionyl tRNA synthetase, which is complexed with tRNA and activated methionine. Molecular dynamics simulations have been performed on the modeled structure to obtain the equilibrated structure of the complex and the cross correlations between the residues in MetRS. Furthermore, the network analysis on these structures has been carried out to elucidate the paths of communication between the aminoacyl activation site and the anticodon recognition site (Ghosh and Vishveshwara, 2007). This study has provided the detailed paths of communication, which are consistent with experimental results. A similar study on the (MetRS + activated methionine) and (MetRS+tRNA) complexes along with ligand free-native enzyme has also been carried out. A comparison of the paths derived from the four simulations has clearly shown that the communication path is strongly correlated and unique to the enzyme complex, which is bound to both the tRNA and the activated methionine. The method developed here could also be utilized to investigate any protein system where the function takes place through long distance communication. The details of the method of our investigation and the biological implications of the results are presented in this chapter. In chapter 4BII, we have explored the conformational changes in the complexes of E.coli Methionyl tRNA synthetase (MetRS) through novel parameters such as cliques and communities, which identify the rigid regions in the protein structure networks (PSNs). The rigidity/plasticity and the conformational population are the two important ideas invoked in explaining the allosteric effect. MetRS belongs to the aminoacyl tRNA Synthetases (aaRSs) family that play a crucial role in initiating the protein synthesis process. The network parameters evaluated here on the conformational ensembles of MetRS complexes, generated from molecular dynamics simulations, have enabled us to understand the inter-domain communication in detail. Additionally, the characterization of conformational changes in terms of cliques/communities has also become possible, which had eluded conventional analyses. Furthermore, we find that most of the residues participating in clique/communities are strikingly different from those that take part in long-range communication. The cliques/communities evaluated here for the first time on PSNs have beautifully captured the local geometries in their detail within the framework of global topology. Here the allosteric effect is revealed at the residue level by identifying the important residues specific for structural rigidity and functional flexibility in MetRS. Chapter 4C focuses on MD simulations of Methionyl tRNA synthetase (AmetRS) from a thermophilic bacterium, Aquifex aeolicus. As describe in Chapter 4B, we have explored the communication pathways between the anticodon binding region and the aminoacylation site, and the conformational changes in the complexes through cliques and communities. The two MetRSs from E.coli and Aquifex aeolicus are structurally and sequentially very close to each other. But the communication pathways between anticodon binding region and the aminoacylation site from A. aeolicus have differed significantly with the communication paths obtained from E.coli. The residue composition and cliques/communities structure participating in communication are not similar in the MetRSs of both these organisms. Furthermore the formation of cliques/communities and hubs in the communication paths are more in A. aeolicus compared to E.coli. The participation of structurally homologous linker peptide, essential for orienting the two domains for efficient communication is same in both the organisms although, the residues composition near domain interface regions including the linker peptide is different. Thus, the diversity in the functioning of two different MetRS has been brought out, by comparing the E.coli and Aquifex aeolicus systems. Protein Structure network analysis of MD simulated trajectories of various ligand bound complexes of Escherichia coli Cysteinyl-tRNA synthetase (CysRS) have been discussed in Chapter 5. The modeling of the complex is done by docking the ligand CysAMP into the tRNA bound structure of E.coli Cysteinyl tRNA synthetase. Molecular dynamics simulations have been performed on the modeled structure and the paths of communications were evaluated using a similar method as used in finding communication paths for MetRS enzymes. Compared to MetRS the evaluation of communication paths in CysRS is complicated due to presence of both direct and indirect readouts. The direct and indirect readouts (DR/IR) involve interaction of protein residues with base-specific functional group and sugar-phosphate backbone of nucleic acids respectively. Two paths of communication between the anticodon region and the activation site has been identified by combining the cross correlation information with the protein structure network constructed on the basis of non-covalent interaction. The complete paths include DR/IR interactions with tRNA. Cliques/communities of non-covalently interacting residues imparting structural rigidity are present along the paths. The reduction of cooperative fluctuation due to the presence of community is compensated by IR/DR interaction and thus plays a crucial role in communication of CysRS. Chapter 6 focuses on free energy calculations of aminoacyl tRNA synthetases with various ligands. The free energy contributions to the binding of the substrates are calculated using a method called MM-PBSA (Massova and Kollman, 2000). The binding free energies were calculated as the difference between the free energy of the enzyme-ligand complex, and the free ligand and protein. The ligand unbinding energy values obtained from the umbrella sampling MD correlates well with the ligand binding energies obtained from MM-PBSA method. Furthermore the essential dynamics was captured from MD simulations trajectories performed on E.coli MetRS, A. aeolius MetRS and E.coli CysRS in terms of the eigenvalues. The top two modes account for more than 50% of the motion in essential space for systems E.coli MetRS, A. aeolius MetRS and E.coli CysRS. Population distribution of protein conformation states are looked at the essential plane defined by the two principal components with highest eigenvalues. This shows how aaRSs existed as a population of conformational states and the variation with the addition of ligands. The population of conformational states is converted into Free energy contour surface. From free energy surfaces, it is evident that the E.coli tRNAMet bound MetRS conformational fluctuations are more, which attributes to less rigidity in the complex. Whereas E.coli tRNACys bound CysRS conformational fluctuations are less and this is reflected in the increase in rigidity of the complex as confirmed by its entropic contribution. Future directions have been discussed in the final chapter (Chapter 7). Specifically, it deals with the ab-initio QM/MM study of the enzymatic reaction involved in the active site of E.coli Methionyl tRNA synthetase. To achieve this, two softwares are integrated: the Quantum Mechanics (QM) part includes small ligands and the Molecular Mechanics (MM) part as protein MetRS are handled using CPMD and Gromacs respectively. The inputs for two reactions pathways are prepared. First reaction involves cyclization reaction of homocysteine in the active site of MetRS and the second reaction deals with charging of methionine in the presence of ATP and magnesium ion. These simulations require very high power computing systems and also time of computation is also very large. With the available computational power we could simulate up to 10ps and it is insufficient for analysis. The future direction will involve the simulations of these systems for longer time, followed by the analysis for reaction pathways.