Dissertations / Theses on the topic 'Variation (biology)'

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1

Franks, Alexander M. "Quantifying Sources of Variation in High-throughput Biology." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17463988.

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One of the central challenges in systems biology research is disentangling relevant and irrelevant sources of variation. While the relevant quantities are always context dependent, an important distinction can be drawn between variability due to biological processes and variability due measurement error. Biological variability includes variability between mRNA or protein abundances within a well defined condition, variability of these abundances across conditions (physiological variability), and between species or between subject variability. Technical variability includes measurement error, technological bias, and variability due to missing data. In this dissertation, we explore statistical challenges associated with disentangling sources of variability, both biological and technical, in the analysis of high-throughput biological data. In the first chapter, we present a careful meta-analysis of 27 yeast data sets supported by a multilevel model to separate biological variability from structured technical variability. In the second chapter, we suggest a simple and general approach for deconvolving the contributions of orthogonal sources of biological variability, both between and within molecules, across multiple physiological conditions. The results discussed in these two chapters elucidate the relative importance of transcriptional and post-transcriptional regulation of protein levels. Finally, in the third chapter we introduce a novel approach for modeling non-ignorable missing data. We illustrate the utility of this methodology on missing data in mRNA and protein measurements.
Statistics
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2

Herfindal, Ivar. "Life history consequences of environmental variation along ecological gradients in northern ungulates." Doctoral thesis, Norwegian University of Science and Technology, Department of Biology, 2006. http://urn.kb.se/resolve?urn=urn:nbn:no:ntnu:diva-706.

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Temporal and spatial variation in the environment can influence the performance of individuals in wild ungulate populations. Of particular importance is an understanding of the mechanisms that shape variation in individual body mass, because several important life history traits are directly related to body mass. Body mass is one of the first traits that is influenced by environmental variation, and often the effect operates through variation in the components of the foraging niche of ungulates. In this thesis, I aim to demonstrate how measurements of environmental variation relate to variation in the foraging niche of ungulates. Furthermore, I aim to explore how variation in ungulate life history traits relates to these variables, and finally, how the management of ungulates could benefit from the incorporation of knowledge about the effects of environmental variation on population dynamics. I use weather observations, large-scale climate indices, and indices of environmental phenology based on satellite-derived vegetation indices (NDVI) to analyse the effect of environmental variation on plants and body mass in moose (Alces alces) and roe deer (Capreolus capreolus) populations.

The environmental variables that explained most of the variation in plant performance, measured as radial growth in common juniper (Juniper communis) also explained variation in ungulate body mass. These variables were related to conditions in spring and early summer. Plant growth was low in cold summers, and in spring where the green-up curve as measured by change in photosynthetic activity during spring was moderate. Such growing conditions are recognised to increase the quality of the plants as forage for ungulates. Consequently, moose body mass in autumn showed the opposite pattern than juniper to environmental conditions, indicating that quality of plants, rather than the quantity, is an important component in temperate ungulate foraging niche. Further, regional variation in moose body mass was associated with environmental variables related to forage quality. Roe deer body mass was associated with availability of forage during winter, and not with factors related to summer conditions. Factors related to forage quantity neither influenced temporal nor spatial variation in body mass in the two species.

Accordingly, it appears that both weather observations and satellite-derived vegetation indices are able to effectively predict variation in plant performance related to variation in foraging conditions for ungulates. The variation in forage quality in space and time created variation in body mass between populations and between cohorts within a population. Further, the variation in body mass between moose population, caused by variation in the foraging conditions, predicted how the populations differentially respond to the effects of environmental stochastisity. In populations with a high mean body mass, or a low density relative to plant biomass production, available resources buffered environmental stochastisity, and were less influenced by environmental variation than populations with relatively fewer resources available.

If wildlife managers fail to incorporate the effects of environmental variation on population performance, e.g. on the recruitment rate, the population may show unexpected and large fluctuations in size. Therefore, managers should attempt to incorporate knowledge of recent environmental conditions on the population when setting harvesting quotas.

In face of the large variation in environmental conditions experienced by the ungulate populations in Norway, and the fact that responses to environmental variation varies between populations, management should be regionally adapted, and aim to incorporate variation in vital rates caused by environmental conditions. This is likely to create more stable and predictable populations. In face of the predicted climate and landscape changes in Norwegian forests, environmental variables, e.g. from satellite-derived vegetation indices, have the potential to be a powerful tool for a sustainable management of ungulate populations. Consequently, such information should be incorporated into the management of ungulates in order to a) obtain a management of ungulate populations that is adapted to regional mechanisms of environmental variation, and b) acquire a management that is sustainable in face of future change in climate and landscape that may vary regionally. This calls for a regional differentiation in management strategies.

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3

Larsson, Jobs Karl. "Population Fragmentation and Genetic Variation in Grouse." Doctoral thesis, Uppsala University, Department of Ecology and Evolution, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6006.

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In this thesis the genetic variation of two grouse species, the Chinese grouse (Bonasa sewersowi) and the Black grouse (Tetrao tetrix) was examined with neutral genetic markers: microsatellites. Habitat fragmentation and isolation leads to structuring among and loss of genetic variation within populations.

The Chinese grouse in a small population in Lianhuasan nature reserve was found to have undergone a population bottleneck and as a result of isolation and possible inbreeding showed genetic impoverishment hereof.

The Black grouse populations in Europe face various different conditions from widely distributed areas of suitable habitat in the northern and eastern parts of its range to highly naturally and anthropogenically fragmented habitat landscapes in the west.

Structure among populations was found in Great Britain where Wales, Scotland and England showed characteristics of three different genetic entities, indicating very little or no geneflow between these populations.

The Dutch population showed signs of loss of genetic variation as to be expected from a population that has historically decreased in population size from several thousands to tens of individuals in a matter of decades. However the possibility to spot signs of a bottleneck was impaired due to the short time-window in which this can be observed in a population with such a low effective population size (NE).

The sampled populations in Europe clustered into five different groups of genetic identities. The different clusters were: Great Britain-, the Netherlands-, Fenno-Scandian-, Alpine- and lowland German-Austrian populations. The level of genetic variation when compared over all these different populations decreased as a sign of isolation and small NE. However it was not feasible to separate the impact of these two factors.

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4

Jacobs, Jerry Dale. "Regulation of life history strategies with individuals in predictable and unpredictable environments /." Thesis, Connect to this title online; UW restricted, 1996. http://hdl.handle.net/1773/5169.

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5

Allen, J. B. "Geographical variation and population biology in wild Theobroma cacao." Thesis, University of Edinburgh, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.384148.

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6

Davids, Wagied. "Causes of Substitution Frequency Variation in Pathogenic Bacteria." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4838.

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7

Barrera, Luis A. "Towards a Systematic Approach for Characterizing Regulatory Variation." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:26718710.

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A growing body of evidence suggests that genetic variants that alter gene expression are responsible for many phenotypic differences across individuals, particularly for the risk of developing common diseases. However, the molecular mechanisms that underlie the vast majority of associations between genetic variants and their phenotypes remain unknown. An important limiting factor is that genetic variants remain difficult to interpret, particularly in noncoding sequences. Developing truly systematic approaches for characterizing regulatory variants will require: (a) improved annotations for the genomic sequences that control gene expression, (b) a more complete understanding of the molecular mechanisms through which genetic variants, both coding and noncoding, can affect gene expression, and (c) better experimental tools for testing hypotheses about regulatory variants. In this dissertation, I present conceptual and methodological advances that directly contribute to each of these goals. A recurring theme in all of these developments is the statistical modeling of protein-DNA interactions and its integration with other data types. First, I describe enhancer-FACS-Seq, a high-throughput experimental approach for screening candidate enhancer sequences to test for in vivo, tissue-specific activity. Second, I present an integrative computational analysis of the in vivo binding of NF-kappaB, a key regulator of the immune system, yielding new insights into how genetic variants can affect NF-kappaB binding. Next, I describe the first comprehensive survey of coding variation in human transcription factors and what it reveals about additional sources of genetic variation that can affect gene expression. Finally, I present SIFTED, a statistical framework and web tool for the optimal design of TAL effectors, which have been used successfully in genome editing and can thus be used to test hypotheses about regulatory variants. Together, these developments help fulfill key needs in the quest to understand the molecular basis of human phenotypic variation.
Biophysics
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8

Benmerzouga, Imaan A. "REGULATION OF ANTIGENIC VARIATION IN TRYPANOSOMA BRUCEI." Cleveland State University / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=csu1376047183.

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9

Foulkes, Nicholas F. "Molecular biology of the human G 6-PD gene." Thesis, University of Oxford, 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.253009.

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10

Wilson, David Francis. "Purposive variation in recordkeeping in the academic molecular biology laboratory." Thesis, University of Glasgow, 2011. http://theses.gla.ac.uk/2482/.

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This thesis presents an investigation into the role played by laboratory records in the disciplinary discourse of academic molecular biology laboratories. The motivation behind this study stems from two areas of concern. Firstly, the laboratory record has received comparatively little attention as a linguistic genre in spite of its central role in the daily work of laboratory scientists. Secondly, laboratory records have become a focus for technologically driven change through the advent of computing systems that aim to support a transition away from the traditional paper-based approach towards electronic recordkeeping. Electronic recordkeeping raises the potential for increased sharing of laboratory records across laboratory communities. However, the uptake of electronic laboratory notebooks has been, and remains, markedly low in academic laboratories. The investigation employs a multi-perspective research framework combining ethnography, genre analysis, and reading protocol analysis in order to evaluate both the organizational practices and linguistic practices at work in laboratory recordkeeping, and to examine these practices from the viewpoints of both producers and consumers of laboratory records. Particular emphasis is placed on assessing variation in the practices used by different scientists when keeping laboratory records, and on assessing the types of articulation work used to achieve mutual intelligibility across laboratory members. The findings of this investigation indicate that the dominant viewpoint held by laboratory staff other than principal investigators conceptualized laboratory records as a personal resource rather than a community archive. Readers other than the original author relied almost exclusively on the recontextualization of selected information from laboratory records into ‘public genres’ such as laboratory talks, research articles, and progress reports as the preferred means of accessing the information held in the records. The consistent use of summarized forms of recording experimental data rendered most laboratory records as both unreliable and of limited usability in the records management sense that they did not form full and accurate descriptions that could support future organizational activities. These findings offer a counterpoint to other studies, notably a number of studies undertaken as part of technology developments for electronic recordkeeping, that report sharing of laboratory records or assume a ‘cyberbolic’ view of laboratory records as a shared resource.
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11

Stevens, D. P. "Studies of variation and reproductive biology in Saxifraga granulata L." Thesis, University of Newcastle Upon Tyne, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.370163.

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12

Kenyon, David Michael. "The biology and pathogenic variation of Erysiphe species on rhododendron." Thesis, University of Strathclyde, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.252052.

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13

Patil, Sonali A. "Single cell interferon beta response variation with virus infection." Thesis, Icahn School of Medicine at Mount Sinai, 2014. http://pqdtopen.proquest.com/#viewpdf?dispub=3617973.

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Viral infection and the subsequent immune responses such as the expression of interferon beta (ifnb1) show extreme levels of cell to cell variability. A fraction of cells get infected and a fraction of infected cells induce an ifnb1 response. These responding cells then signal to coordinate appropriate immune responses required to clear infection. The mechanism of propagation of this response at the single cell level is critical to generate an appropriate defense against the virus, yet is incompletely understood.

Interesting work on cell to cell variability has been done using transfected ifnb1 reporter constructs. However, this approach has several limitations. The reporter systems introduce multiple copies of the reporter construct in each cell, which does not reflect the conditions in the intact cells where only two of the interferon promoter and gene are present. This alters the ifnb1 enhanceosome stoichiometry from the one present in a normal physiological environment, and potentially distorts the patterns of single cell responses observed. In addition, reporter constructs integrate the response that occur over many hours, which makes it difficult to measure the expression dynamics that occur early after exposure to infection. Such measurements in the intact cells would be helpful for understanding the mechanisms underlying the propagation of this immune response.

In order to obtain sensitive and accurate measurements of changes in gene expression in infected single cells, we used single-cell single-molecule mRNA imaging to directly and simultaneously count the transcripts of ifnb1 and that of a virus (Newcastle disease virus) gene Hemagglutinin-neuraminidase hn . This experimental approach enabled us to measure the single-cell responses from the very early stages of infection, in primary immune cells. Simultaneous measurement of ifnb1 and the viral gene hn high lighted the variation in responses across cells, the temporal evolution of the expression of the two genes and their single cell correlation following infection.

We find that the single cell ifnb1 response to virus infection shows a temporally dispersed (asynchronous) pattern. A small fraction of infected cells respond very early and more ifnb1 expressing cells are recruited at later time after infection. In contrast, the single ifnb1 response to the toll like receptor stimulant LPS, follows a highly synchronous pattern, where in a large number of cells showed an ifnb1 response around the same time after treatment. These results suggest that the temporal evolution of single cell ifnb1 responses was likely dependent on the type of the inducing stimuli. Furthermore we observed that extracellular signaling plays an important role in introducing cell-to-cell variability in ifnb1gene induction in response to virus infection. Inhibition of extracellular signaling converted the response to virus infection into an early synchronous LPS-like response. Thus extracellular signaling shapes the temporally dispersed pattern of single cell ifnb1 response to viral infection.

The pattern of ifnb1 responses to virus infection involves an increase in the amplitude of the response per cell as well as an increase in the number of responding cells over time of infection. These properties may enable cells to fine tune the ifnb1 responses gradually. This strategy of mounting an antiviral cytokine response may be useful in calibrating the immune response such that an appropriate antiviral response is generated and cellular toxicity resulting from excessive cytokine expression is usually avoided.

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14

Postuma, Ronald B. "Seasonal variation in risk of Parkinson's disease." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=99199.

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Parkinson's disease (PD) is a common neurodegenerative condition characterized by progressive motor, speech, swallowing, and gait difficulties. Risk factors for PD include male sex, pesticide exposure, head trauma, and rural living, but these account for only a small amount of the variation in risk. Recent studies suggest that for many neurological diseases, people born at a certain time of year are at higher risk of developing the disease. Small-scale studies have also suggested that persons born in the spring may be at higher risk of developing PD late in life. We examined the birth dates of 8168 PD patients collected from subspecialty movement disorder clinics across Canada. Patterns of seasonality in births or clusters of birth dates were examined and compared with the general Canadian population (from the 2001 census). We found no evidence of seasonal variation in PD incidence by birth date or clustering of birth dates in PD patients.
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15

Cantonwine, Emily Gayle. "Phenylheptatriyne variation in bidens alba var. radiata leaves." FIU Digital Commons, 1999. http://digitalcommons.fiu.edu/etd/2031.

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Variation of phenylheptatriyne (PHT) concentrations in leaves of Bidens alba (Linn.) var. radiata (Schultz-Bip.) was investigated across it's Florida range, throughout the year and in response to photoenvironment. Natural surveys of PHT concentrations in B. alba leaves were done at 13 sites in Florida and three sites throughout the year. PHT concentrations were significantly different between populations (p<0.001) but showed little relationship with latitude (R2 =0.024) and none with longitude. Concentrations in leaves fluctuated throughout the year (p<0.001). They were highest in October, followed by June and lowest in January and April. Photoenvironmental influences were experimentally tested. PHT concentrations decreased under low R/FR treatments and increased under filtered UV treatments. Low light quantity did not significantly influence PHT concentrations but decreased PHT levels and leaf biomass. The results suggests that PHT concentrations in B. alba leaves vary in nature and that light quality, R/FR and UV, may effect PHT biosynthesis.
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16

Blackman, Benjamin K. "Evolutionary genetics of flowering time regulation and variation in Helianthus." [Bloomington, Ind.] : Indiana University, 2009. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3373495.

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Thesis (Ph.D.)--Indiana University, Dept. of Biology 2009.
Title from home page (viewed on Jul 8, 2010). Source: Dissertation Abstracts International, Volume: 70-10, Section: B, page: 5957. Advisers: Loren H. Rieseberg; Scott D. Michaels.
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17

Obaid, Jian. "What is known about genetic variation among Baltic Sea blue mussels and the promise of proteomics. A literature review." Thesis, Södertörn University College, School of Life Sciences, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:sh:diva-2701.

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The Baltic Sea is an evolutionary young sea that have developed a low salinity in its water from the fresh water that flows from the north and saltwater that flows from the south of the sea. The low salinity is too low for many marine organisms and too high for many freshwater organisms. Species like the blue mussel, which have adapted to the low salinity, may have developed different protein expression as a result. To study which protein that have been expressed in the organism proteome analysis is often used. 2-dimensional electrophoresis may be the only method that can do this kind of analysis.

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18

PANDYA, UNNATI. "Trypanosoma Brucei Telomere Functions In Antigenic Variation." Cleveland State University / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=csu1406241248.

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19

Scheper, Reiny W. A. "Studies on the biology and genetic variation of phomopsis on grapevine /." Title page, contents and abstract only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phs325.pdf.

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20

Pool, P. A. "Variation, reproductive biology and yielding behaviour in cloves (Syzygium aromaticum L.)." Thesis, University of Reading, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.379309.

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21

Peters, Derek Tilghman. "Isogenic Human Pluripotent Stem Cell Models of Cardiovascular Disease-Associated Genetic Variation." Thesis, Harvard University, 2016. http://nrs.harvard.edu/urn-3:HUL.InstRepos:33493401.

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A complex interplay of genetic and environmental factors underlies the development of common human diseases such as cardiovascular disease. Despite widespread use of existing medications, coronary heart disease (CHD), including myocardial infarction (MI), remains a significant cause of morbidity and mortality worldwide. The results of recent human genetic studies have provided unprecedented opportunities to elucidate the genes and molecular pathways that underlie CHD and risk factors like plasma lipid concentrations. Translating these findings into mechanistic insight promises to improve our understanding of disease pathogenesis and aid in the development of novel therapies. Precise functional characterization is required to bridge this gap; yet doing so can be challenging using traditional approaches. The properties of human pluripotent stem cells (hPSCs) make them uniquely suited to address this challenge - they retain a normal human genome in culture, can be genetically modified, and can be differentiated into multiple cell types. The work presented in this thesis demonstrates the use of hPSCs and genome editing technology to generate human disease models in vitro. We developed a genome editing system optimized for hPSCs that can be used to efficiently generate hPSC lines with targeted genetic modifications. Modified and isogenic control hPSCs are then differentiated into a relevant cell type for phenotypic characterization. We applied this approach to investigate the functional effects of human genetic variation underlying plasma lipid concentrations. We used TALEN genome editing to clarify the role of the SORT1 gene as a mediator of cellular metabolic processes. We targeted the ANGPTL3 gene using TALEN and CRISPR/Cas9 genome editing to create an in vitro model of a monogenic disorder, familial combined hypolipidemia, and investigated the putative role of ANGPTL3 in the regulation of low-density lipoprotein cholesterol metabolism. To facilitate the use of hPSC-models to study subtle phenotypes involving human liver, we developed a method for purifying hepatocyte-like cells following hPSC differentiation. Finally, we combined these approaches to model the tissue-specific effects of a common non-coding genetic variant in the chromosome 1p13 locus that is associated with risk of MI. This result demonstrates the feasibility of using hPSCs to characterize disease-associated common genetic variation.
Medical Sciences
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22

Li, Xiang. "STRESS-INDUCED GENETIC CHANGE IN FLAX REVEALS GENOME VARIATION MECHANISM." Case Western Reserve University School of Graduate Studies / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=case1565964370435691.

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23

Ratnappan, Ramesh. "Analyses of adaptive evolution and recombination rate variation in Drosophila." Diss., University of Iowa, 2011. https://ir.uiowa.edu/etd/3517.

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The neutral theory of molecular evolution provides a framework to understand the molecular basis of evolutionary change. The fundamental principle of the neutral theory is that the majority of mutations observed within populations as well as between species is neutral. More importantly, the theoretical framework that the neutral theory provides not only includes mutation and random genetic drift but also two other important parameters in evolution: selection and recombination. Molecular evolutionary analyses allow us to estimate the magnitude and consequences of these parameters in natural populations. The work presented in this thesis investigates two aspects affecting evolutionary change: adaptation and recombination. In the second and third chapter, adaptive changes associated with a new habitat are investigated in Drosophila santomea, a species which belongs to the melanogaster subgroup and which is endemic to the volcanic island of São Tomé. In its present habitat, D. santomea inhabits a colder, darker and more humid environment compared with its sister species, Drosophila yakuba, which is distributed throughout sub-Saharan Africa. Comparisons of genome wide changes in expression between these species indicate that a group of genes involved in detection of external stimuli could be providing selective advantages to D. santomea in its new environment. In the second chapter, the coding sequences of these genes were obtained in D. santomea and analyzed to assess signatures of selection at the level of amino acid sequence. The analysis reveals that along with changes in the gene expression, protein coding sequences are evolving at a faster rate in D. santomea when compared with D. yakuba, likely providing evidence for an adaptive advantage to D. santomea when colonizing its new environment. The third chapter describes the study of the effect of cold temperature on the fitness of both species. The results indicate that D. santomea tolerates cold temperature better than D. yakuba, with different stages of the life cycle showing more pronounced effects. The observed reduction in fitness at low temperatures strongly supports the hypothesis that temperature is a key factor delimiting the distribution of these two species in their current habitats. Recombination is an important evolutionary parameter that influences the amount of variation present within a species and the potential to adapt to biotic/abiotic changes. As such, it is a key parameter in population genetics models of selection. To date, however, no study has been able to measure the variation in recombination with high resolution (ideally at the level of single genes) while also capturing variation in recombination rates within a species. Further, there is a need to understand how the two outcomes of meiotic recombination (cross-over and gene conversion) are distributed across genomes. The fourth chapter describes the direct measurement of ultra-high-resolution variation in recombination rate throughout the D. melanogaster genome by massively genotyping the products of 5860 female meiosis. These maps reveal that cross-over rates are sharply reduced near telomeres and centromeres, with no cross-over activity in the small fourth chromosome. Importantly, we detect genomic regions with almost undetectable cross-over events embedded in large regions with high cross-over rates. Gene conversion rates are more uniformly distributed across the genome than cross-over rates and detectable even in regions with no evidence of cross-over activity. Finally, the study of intraspecific variation on cross-over rates reveals many regions with significant excess of variation thus uncovering the presence of modifiers of recombination segregating with D. melanogaster. The results from this analysis underscore the need to incorporate both intraspecific variation in cross-over rates as well as gene conversion rates into a new generation of population genetics models.
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24

Parsley, Meghan. "Adaptive Variation in Tiger Salamander Populations." TopSCHOLAR®, 2017. https://digitalcommons.wku.edu/theses/2056.

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Amphibians face an unknown future in a time of rapid environmental change due to global climate perturbations. Since amphibians are perceived to be indicators of ecosystem health, understanding the causes of their declines can improve our perception of threats to other species. Molecular techniques have allowed us to explore how environmental change affects genetic variation and to predict evolutionary adaptive potential of amphibian populations. The identification of populations with the greatest potential to respond to changing environmental variables may be an important conservation strategy to aid in future management efforts. I utilized targeted exon capture sequencing to identify adaptive variation in California tiger salamanders (CTS; Ambystoma californiense), a species threatened by land use change and hybridization with barred tiger salamanders (A. mavortium). I identified 17 and 26 outlier loci for balancing selection in historic and recent samples of CTS respectively. The outlier loci corresponded to genes of various functions, though none of the outliers associated significantly with the change in several tested environmental variables. Despite the lack of environmental correlations detected, it must also be considered that the outlier loci could be involved in epistatic interactions where many genes with small effects influence a single phenotype with fitness benefits. Additional hypotheses to explain the observed changes in allele frequencies and outliers may be the effects of UV-B radiation, pesticide use, or indirect effects of climate change.
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25

Danielson-Francois, Anne. "Variation in Tetragnathid spermathecal structures and sperm competition with descriptions of natural history." Diss., The University of Arizona, 2002. http://hdl.handle.net/10150/279954.

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The study of variation in arachnid genitalic structures has contributed to the fields of systematics and sexual selection. Simon (1892--1903) in his Histoire Naturelle des Araignees first divided the ecribellate higher spiders into two groups, the Haplogynae and Entelegynae, using reproductive morphology. Spider genitalia have been used as a taxonomic tool for distinguishing between taxa because of their species-specific morphological variation. Variation in spider genitalic morphology has inspired evolutionary biologists to test mechanisms of sexual selection by which the variation could evolve, ranging from Fisherian run-away selection, chase-away selection, and sperm competition. The Tetragnathidae are particularly interesting for a comparison between haplogyne and entelegyne reproductive morphologies. Within this entelegyne family, a reversal to haplogyny has occurred. Fifteen representative members of this family and four outgroup taxa were examined with scanning and transmission electron microscopy in order to describe the fine structure of spermathecae, including the distribution and density of spermathecal gland pores. While the function(s) of the glandular secretion are unknown, the distribution and density of spermathecal gland pores is discussed with regard to possible functions of the glandular secretion. The potential influence of spermathecal gland secretions on mating behavior and sperm competition is considered. Sperm release patterns have been examined in entelegynes, but previously were not available for haplogynes. The relationship between copulation duration and sperm release was determined in Tetragnatha versicolor, the first examination of sperm release patterns in any haplogyne spider. In this species, copulation duration is not proportional to sperm release. To examine the relative influence of spermathecal morphology and numerical sperm competition on paternity, sperm release and paternity was assessed in the entelegyne Nephila clavipes and the haplogyne Tetragnatha versicolor. The data clearly support differential sperm release between males as the cause of previously reported first-male advantage in Nephila clavipes and the mixed paternity found for N. clavipes and Tetragnatha versicolor in this study. The natural history, mating behavior, and sperm release were determined for a previously unstudied tetragnathid species, Glenognatha emertoni . This is the second examination of haplogyne sperm release behavior as well as the first description of an unusual escape behavior.
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26

Herron, Jon C. "Genetic variation, thermal sensitivity, and thermal acclimation in Volvox aureus and Volvox globator /." Thesis, Connect to this title online; UW restricted, 1996. http://hdl.handle.net/1773/5115.

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27

Dolphin, Kimberly E. "Variation in mating preferences and behaviors in Drosophila melanogaster." Thesis, California State University, Long Beach, 2015. http://pqdtopen.proquest.com/#viewpdf?dispub=1585517.

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I found that in inbred females D. melanogaster, physical condition plays a major role in the amount of polyandry. In some systems there is evidence that the ability to self assess allows inbred females to vary their reproductive behavior to increase promiscuity. I predicted that this may be true in Drosophila melanogaster females, but we found that inbred females behaved less promiscuously in three proxies than outbred females. Inbred females mated with fewer total males, fewer different males, and had longer copulation latency than their outbred conspecifics. However, male mate choice is not predicted in Drosophila melanogaster because males invest less than females, but recently the importance of male preference has been gaining support. How these males are making decisions is an important component to understanding the evolutionary impacts of the male's behaviors. I found that male mate choices are heavily influenced by previous experiences, and the lack of experience causes significant changes in courtship latency and overall preferences.

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28

Lewis, Paul Ollin. "Allozyme variation and evolution in Polygonella (Polygonaceae)." The Ohio State University, 1991. http://rave.ohiolink.edu/etdc/view?acc_num=osu1239622655.

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29

Mal, Tarun K. "Population biology and floral variation in Lythrum salicaria, a heterostylous colonizing weed." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1996. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/NQ30286.pdf.

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30

Einarsson, Elin. "Comparative Cell Biology in Diplomonads." Doctoral thesis, Uppsala universitet, Institutionen för cell- och molekylärbiologi, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-264541.

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The diplomonads are a diverse group of eukaryotic flagellates found in microaerophilic and anaerobic environments. The most studied diplomonad is the intestinal parasite Giardia intestinalis, which infects a variety of mammals and cause diarrheal disease. Less is known about Spironucleus salmonicida, a parasite of salmonid fish, known to cause systemic infections with high mortality. We created a transfection system for S. salmonicida to study cellular functions and virulence in detail (Paper I). The system was applied to explore the mitochondrion-related organelle (MRO) in S. salmonicida. We showed that S. salmonicida possesses a hydrogenosome (Paper II) with a higher metabolic capacity than the corresponding MRO of Giardia, the mitosome. Evolutionary analysis of key hydrogenosomal proteins showed ancient origin, indicating their presence in the ancestral diplomonad and subsequent loss in Giardia. Annexins are of evolutionary interest since these proteins are found across all kingdoms. Annexin-like proteins are intriguingly expanded into multigene families in Giardia and Spironucleus. The annexins of S. salmonicida were characterized (Paper III) with distinct localizations to various cellular structures, including a putative adhesion structure anterior in the cell. The disease-causing Giardia trophozoites differentiate into infectious cysts, a process essential for transmission and virulence of the parasite. Cysts are often spread via contaminated water and exposed to environmental stressors, such as UV irradiation. We studied the survival and transcriptional response to this stress factor (Paper IV) and results showed the importance of active DNA replication machinery for parasite survival after DNA damage. In addition, we studied transcriptional changes along the trajectory of encystation (Paper V), which revealed a coordinated cascade of gene regulation. This was observed for the entire transcriptome as well as putative regulators. Large transcriptional changes appeared late in the process with the majority of differentially regulated genes encoding hypothetical proteins. We studied the localizations of several of these to gain information of their possible function. To conclude, the diplomonads are complex eukaryotic microbes with cellular processes adjusted to match their life styles. The work in this thesis has provided insight of their adaptations, differences and similarities, but also new interesting leads for future studies of diplomonad biology and virulence.
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31

Carrara, Susan. "Genetic variation among cultivated selections of mamey sapote (Pouteria spp. [Sapotaceae])." FIU Digital Commons, 2004. http://digitalcommons.fiu.edu/etd/2054.

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Mamey sapote [Pouteria spp., Sapotaceae] is a tree fruit of economic and cultural importance in Central America, Mexico, and the Caribbean islands. It contributes greatly to local economies, habitats, and human nutrition. This study is among the first to analyze genetic variability among cultivated selections of mamey sapote. The Amplified Fragment Length Polymorphism (AFLP) molecular technique was used to estimate levels of genetic diversity and similarity between individual specimens in the germplasm collections of Fairchild Tropical Botanic Garden and University of Florida. The study found overall low levels of genetic diversity within these collections. However, higher relative levels of genetic diversity were found in a group of selections from northern Costa Rica and Nicaragua. It is anticipated that future plant collection in that region will capture greater genetic diversity among cultivated types. In addition, 'Pantin' selections were used to investigate the level of variation within supposedly identical selections. This baseline information can be applied to the management and expansion of the germplasm collections by identifying duplicate selections and homonyms and by locating geographical areas for future collection.
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32

Sosnoskie, Lynn Marie. "Investigations in weed biology studies at the plant, population, and community levels /." Connect to this title online, 2005. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1102976937.

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Thesis (Ph. D.)--Ohio State University, 2005.
Title from first page of PDF file. Document formatted into pages; contains xx, 147 p.; also includes graphics (some col.) Includes bibliographical references (p. 137-147).
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33

Dankwa, Selasi. "Sialic acid variation as a determinant of Plasmodium invasion of erythrocytes in malaria infection." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17467188.

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Sialic acids are acidic sugars that terminate glycan chains on proteins or lipids on vertebrate cell surfaces. They vary greatly in structure, presentation and amount, all of which are important physiologically, but can also impact the tissue and host tropism of diverse pathogens. Parasites of the genus Plasmodium cause malaria, a disease characterized by a cyclical process of parasite invasion of host erythrocytes, growth and replication and fresh invasion of new erythrocytes. During erythrocyte invasion – an event central to malaria pathogenesis – proteins on the surface of the parasite, known as invasion ligands, bind to specific erythrocyte receptors, many of which are sialylated. In this dissertation, we determined how sialic acid variation impacts erythrocyte invasion by the zoonotic parasite, Plasmodium knowlesi and the most virulent human parasite, Plasmodium falciparum. For studies on P. knowlesi, we determined if Neu5Gc, a sialic acid that is absent in humans but present in most other primates, is a major determinant of parasite tropism. We used the recently described ex vivo erythrocyte culture system to transgenically express the CMAH enzyme, responsible for production of Neu5Gc. P. knowlesi showed significantly increased invasion of Neu5Gc-expressing human erythrocytes, providing evidence that loss of Neu5Gc in humans restricts P. knowlesi invasion of human erythrocytes. We then biochemically characterized two P. knowlesi invasion ligands of the EBL family and found they specifically bind Neu5Gc. These ligands potentially mediate Neu5Gc-dependent invasion of human and macaque erythrocytes. We finally showed that in natural human infections, P. knowlesi can adapt to infect erythrocytes independently of sialic acid. We also studied the use of sialic acid-containing erythrocyte receptors by P. falciparum using the ex vivo erythrocyte culture system. We determined the importance in invasion of glycophorin B (GPB), receptor for P. falciparum invasion ligand, EBL-1, and one of the highly sialylated receptors on the erythrocyte surface. We specifically knocked down gene expression of GPB as well as two well characterized receptors involved in P. falciparum invasion – GPA, the largest contributor to erythrocyte sialic acid and GPC, another sialylated receptor. Invasion assays using P. falciparum laboratory strains and field isolates revealed that GPB is a dominant receptor in P. falciparum invasion, of comparable importance to GPA.
Biological Sciences in Public Health
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34

Kitson, Sarah R. "Malaclemys terrapin Hatchlings: Variation in Seasonal Emergence." Ohio University / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=ohiou1479156414322192.

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35

Anderson, Jeffrey K. "Systematic implications of isozyme number variation in Tribe Brassiceae (Brassicaceae)." Thesis, University of Ottawa (Canada), 1995. http://hdl.handle.net/10393/9643.

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Tribe Brassiceae (haploid chromosome number, n=6$-$75) is generally recognized as one of the few natural (monophyletic) groups in the Brassicaceae. Recent molecular analyses, however, have questioned the validity of this subtribal classification and have proposed new generic and subtribal circumscriptions. The present study examined isozyme number, which is usually highly conserved in diploid plants, in order to assess the evolution of chromosome number and systematic relationships in the tribe. Ten enzyme systems were surveyed for 108 species in 35 genera of tribe Brassiceae and for eleven species from seven other tribes of the family. The observed variation in isozyme number among taxa was phylogenetically informative. Duplications for cytosolic phosphoglucomutase (Pgm-2) and plastid triosephosphate isomerase (Tpi-1) were evident in 33 of the 35 Brassiceae genera examined, supporting the monophyletic nature of the tribe, with inclusion of Orychophragmus and exclusion of Calepina and Conringia. Duplications for cytosolic isocitrate dehydrogenase (Idh-2) were observed in members of Brassica, Diplotaxis, Moricandia and Pseuderucaria, confirming that subtribes Moricandiinae and Brassicinae are artificially separated, as indicated by restriction site analysis of chloroplast DNA and hybridization data. The only subtribe clearly supported as monophyletic by the isozyme data was the Cakilinae which displayed duplications for cytosolic glucose-6-phosphate isomerase (Gpi-2) and Idh-2 in several taxa. The present study also compared allozyme patterns of select allopolyploids and their proposed parental species. These analyses verified Diplotaxis tenuifolia (n = 11) and D. viminea (n = 10), and D. erucoides (n = 7) and Erucastrum nasturtiifolium (n = 8) as respective parental taxa of D. muralis (n = 10 + 11) and E. gallicum (n = 7 + 8). In addition, inheritance studies conducted on Sinapis arvensis confirmed Mendelian inheritance at seven isozyme loci.
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36

Lee, Peter Daniel. "Building a model for mapping genetic variation affecting gene expression." Thesis, McGill University, 2005. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=85931.

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The majority of genetic traits including most common diseases are believed to be multigenic and arise both from variations in coding sequences as well as from regulatory polymorphisms. Genome-wide approaches are needed to develop models for understanding this complexity. This thesis develops approaches for studying genetic variation affecting gene expression on a genome-wide scale. This included development of experimental design principles and analytical methods for microarray data. These principles were then applied to characterize differences between commonly-used A/J and C57BL/6J inbred mouse strains at the molecular level identifying over 2000 genes differentially expressed between these strains across 4 tissues. To further investigate the role of genetic variation in genome-wide expression changes, we analyzed expression profiles of lung tissue obtained from a panel of recombinant congenic strains (RCS) derived from the same inbred strains. An ANOVA was applied using a model to test the association of expression profiles with donor-strain of origin (DSO, inferred from RCS genotyping data), and with genetic background. This model identified over 1500 genes whose expression levels were associated with DSO status (P<0.05) having adjusted for the variability due to predominant strain of background, suggestive of cis-regulatory variation in these genes. We randomly selected 50 positive genes displaying association between DSO and 80 negative genes for validation using allelic imbalance (AI), a method that uses intragenic SNPs for detecting genes with cis-regulatory variation that measures allele-specific transcript levels in cDNA of heterozygous individuals. Of the genes chosen, 54% of positive versus 27% of negative genes contained at least one SNP within ≥ 1 kbp of 3' UTR sequenced (P<0.05 Fisher exact test). Al was found in 63% of positive genes versus 23% of negative genes (P<0.01 Fisher exact test) representing a greater than 10-fo
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37

Al-Sulaimani, Maha Saleh. "Genetic variation in the FMO2 gene : evolution & functional consequences." Thesis, Queen Mary, University of London, 2011. http://qmro.qmul.ac.uk/xmlui/handle/123456789/2324.

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Flavin-containing monooxygenase 2 (FMO2) is involved in the metabolism of xenobiotics, including therapeutic drugs. FMO2 exists in two forms: a functional and a non-functional form. The functional allele is found only in Africa and individuals of recent African origin. The aims of the project were to determine the frequency of functional FMO2 in Africa and obtain insights into the evolutionary history of the FMO2 gene. Six hundred and eighty nine samples from nine African population groups were genotyped for six high-frequency SNPs, and the genetic diversity within FMO2 was characterized by sequencing 3.44 kb of genomic DNA, encompassing the entire coding sequence and some flanking intronic sequences in 48 African individuals. Haplotypes were inferred using Phase and the relationship between mutations was revealed using reduced-median and median-joining Network. Test statistics were used to determine whether the genetic variation is compatible with neutral evolution. Genotyping indicated that deleterious SNPs occur mostly on a non-functional allele and that the frequencies of three were significantly different (P<0.05) among populations. Resequencing identified 32 variants. Genetree was used to estimate the time to the most recent common ancestral sequence (~0.928 million years) and the ages of some of the mutations. Results indicate that the frequency of full-length 23238C alleles is relatively uniform across sub-Saharan Africa. Interestingly, this is not the case for the inferred potentially functional 23238C alleles, which frequency differed significantly (P<0.05) across sub-Saharan Africa. iv The results also provide evidence that the frequency of functional FMO2 in east and west-Africa is high (≥0.54), which has important implications for therapy with drugs that are substrates for FMO2. A Ka/Ks > 1, and low nucleotide sequence diversity of intronic regions of 23238C alleles indicate a possible selective sweep.
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38

Lomelin, David. "Using human genetic variation to predict functional elements in non-coding genomic regions." Diss., Search in ProQuest Dissertations & Theses. UC Only, 2010. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3390057.

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39

Jordan, Daniel Michael. "Predicting the Effects of Missense Variation on Protein Structure, Function, and Evolution." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17464216.

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Estimating the effects of missense mutations is a problem with many important applications in a variety of fields, including medical genetics, evolutionary theory, population genetics, and protein structure and design. Many popular methods exist to solve this problem, the most widely used of which are PolyPhen-2 and SIFT. These methods, along with most other popular methods, rely on multiple sequence alignments of orthologous protein sequences. Based on the amino acids observed in each column of the alignment, they produce a profile describing how tolerated each amino acid is at each position. They then compare the wild-type and variant amino acids to this profile to produce a prediction. In practice, these methods are fast, robust, and relatively reliable. However, from a theoretical perspective, they have at least three significant shortcomings: 1. They use effects on selection as a proxy for effects on phenotype and protein structure and function. 2. They treat each position as independent, ruling out most forms of interactions between sites. 3. They do not explicitly model the process of evolution, instead assuming that sequences we observe more or less represent an equilibrium state. With the recent explosion of sequencing technology, as well as the steady increase of computational power, we are now beginning to have enough data to investigate these simplifications and see how much they really affect the performance of these methods. In this dissertation, I present three such investigations. First, I describe a modified predictor designed to predict risk for a specific disease, hypertrophic cardiomyopathy (HCM), rather than general seletive effect. This method achieves significantly higher accuracy than methods without such specific domain knowledge. Next, I describe a model of pairwise interactions between sites, demonstrating both statistically and with in vivo evidence that approximately 7-12% of disease-causing variants may be mispredicted by these methods due to such interactions. Finally, I describe a hybrid method that uses an alignment-based estimator to inform a parametric model of evolution, resulting in a small but significant improvement in accuracy.
Biophysics
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40

Zuravnsky, Kristin Nicole. "Understanding the roles of polyploidy and the environment on nordihydroguaiaretic acid variation in Larrea tridentata." Thesis, Salisbury University, 2014. http://pqdtopen.proquest.com/#viewpdf?dispub=1525307.

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Nordihydroguaiaretic acid (NDGA) is the principal compound in the resinous leaf coating of Larrea tridentata (creosote bush), the dominant shrub of North American deserts. L. tridentata exists as three polyploid races: diploid (2X = 26), tetraploid (4X = 52), and hexaploid (6X = 78). The distributions of these ploidy levels are strongly associated with the three major deserts of the region where diploids primarily reside in the cooler, wetter Chihuahuan desert, tetraploids in the Sonoran desert, and hexaploids in the hot, dry Mojave desert. NDGA is a secondary metabolite of creosote bush that functions to protect plants from biotic and abiotic stressors such as extreme drought, harmful UV radiation, and herbivory. Here, I investigated the role of polyploidy and environmental variables on the production of NDGA by quantifying concentrations from field and greenhouse-grown polyploids. Citizen scientists were utilized to facilitate simultaneous sampling across the entire distributional range of this species, for one full year. Under natural conditions, shrubs produced significantly higher NDGA concentrations than when removed from the harsh desert environment. In field and greenhouse treatments, hexaploids exhibited higher NDGA concentrations than diploids or tetraploids. Within the diploid cytotype, I documented environmental influences on NDGA concentration based on comparisons between a field site experiencing severe drought, a watered field site, and greenhouse-grown diploids. Principal components analysis revealed that NDGA response to environmental variables successfully predicts the current ploidy distribution of this species. These observations highlight the complexity of plant-environment-genotype interactions and suggest that evolution in production of secondary metabolites may be driven by long-term changes in environmental conditions, and potentially influence species distribution regimes.

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41

Cosner, Mary Elizabeth. "Phylogenetic and molecular evolutionary studies of chloroplast DNA variation in the campanulaceae /." The Ohio State University, 1993. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487847761306203.

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42

Dimsoski, Pero. "Variation in microsatellite loci and trait differences in Yorkshire and Large White /." The Ohio State University, 1996. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487935958845124.

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43

Morisak, Kelli M. "Variation of Pseudogymnoascus destructans Spore Loads and Risk of Human Vectored Transport." University of Akron / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=akron1511983700318656.

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44

Cropp, Cheryl D. "Genetic variation in drug transporters in ethnic populations." Diss., Search in ProQuest Dissertations & Theses. UC Only, 2008. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3339183.

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45

Samocha, Kaitlin E. "Modeling Rare Protein-Coding Variation to Identify Mutation-Intolerant Genes With Application to Disease." Thesis, Harvard University, 2016. http://nrs.harvard.edu/urn-3:HUL.InstRepos:33493508.

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Sequencing exomes—the 1% of the genome that codes for proteins—has increased the rate at which the genetic basis of a patient’s disease is determined. Unfortunately, when a patient does not carry a well-established pathogenic variant, it is extremely challenging to establish which of the tens of thousands of variants identified in that individual is contributing to their disease. In these situations, variants must be prioritized to make further investigation more manageable. In this thesis, we have focused on creating statistical frameworks and models to aid in the interpretation of rare variants and towards establishing gene-level metrics for variant prioritization. We developed a sensitive and specific workflow to detect newly arising (de novo) variants from exome sequencing data of parent-child trios, and created a sequence-context based mutational. This mutational model was the basis of a rigorous statistical framework to evaluate the significance of de novo variant burden not only globally, but also per gene. When we applied this framework to de novo variants identified in patients with an autism spectrum disorder, we found a global excess of de novo loss-of-function variants as well as two genes that harbored significantly more de novo loss-of-function variants than expected. We also used the mutational model to predict the expected number of rare (minor allele frequency < 0.1%) variants in exome sequencing datasets of reference individuals. We found a significant depletion of missense and loss-of-function variants in a subset of genes, indicating that these genes are under strong evolutionary constraint. Specifically, we identified 3,230 genes that are intolerant of loss-of-function variation and that set of genes is enriched for established dominant and haploinsufficient disease genes. Similarly, we searched for regions within genes that were intolerant of missense variation. The most missense depleted 15% of the exome contains 83% of reported pathogenic variants found in haploinsufficient disease genes that cause severe disease. Additionally, both gene-level and region-level constraint metrics highlight a set of de novo variants from patients with a neurodevelopmental disorder that are more likely to be pathogenic, supporting the utility of these metrics when interpreting rare variants within the context of disease.
Medical Sciences
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46

Coon, Keith Darren. "Genetic variation of maternal and paternal lineages within the Havasupai Indians of northern Arizona." Diss., The University of Arizona, 2002. http://hdl.handle.net/10150/284314.

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The Havasupai Indians are a small (∼600 members), Yuman-speaking population that resides on a reservation in the Grand Canyon region of northern Arizona. Due to their location and cultural practices, they are subjected to extreme geographic and reproductive isolation. Additionally, an influenza epidemic at the turn of the century decreased the reproducing population to 43 females and 42 males. These observations suggest that the Havasupai should contain less genetic diversity than other Native American populations. They are also disproportionately affected by disease, having the third largest incidence of Non Insulin-Dependent Diabetes Mellitus (NIDDM) in the world. An extensive analysis of maternal and paternal variation of the Havasupai was undertaken. Maternal variation was assayed by sequencing the non-coding control region (CR) of mitochondrial DNA (mtDNA), whereas paternal variation was examined using single nucleotide polymorphisms (SNPs) and short tandem repeats (STRs) located on the non-recombining portion of the Y-chromosome (NRY). Due to the availability of familial pedigrees dating back to the mid-1800s and spanning eight generations, precise mutation rates were determined for maternal and paternal lineages. The Havasupai thus offer a unique opportunity to explore genetic variation in a small, homogenous Native American population for which extensive genealogical information is readily available. Examination of mtDNA sequences from the complete 1127 by CR of 43 Havasupai individuals along with SNP and STR data from the Y-chromosome of 48 male Havasupai revealed that contrary to our initial prediction, the Havasupai, historically a small population (as evidenced by the limited number of founder haplotypes and low estimates of π), probably maintained a relatively high level of diversity (as evidenced by the number of rare haplotypes, high haplotype diversity, and high estimate of E(ν)), probably a remnant of their association with the larger Pai population from which they are derived. As the level of diversity displayed by the Havasupai seems to have been maintained since the recent population bottleneck, it must have been too small and/or too short to have any detectable effect on the overall diversity of the tribe. Lastly, there appears to be some association between mtDNA mutations and NIDDM in the Havasupai population.
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47

Anders, Constance. "Morphological, Molecular, and Biogeographical Variation within the Imperiled Virginia Spiraea." TopSCHOLAR®, 2000. http://digitalcommons.wku.edu/theses/709.

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Spiraea virginiana Britton is a rare federally listed rhizomatous shrub endemic to the southern Blue Ridge and Appalachian Plateau physiographic provinces. Populations of S. virginiana are found restricted to scoured sections of high gradient streams within the Ohio River drainage. Present evidence indicates the species is reproducing asexually, most probably through the deposition of rhizomes from upstream populations forming new downstream ramets. Phenotypic variation was examined through a morphometric evaluation of 25 leaf measurements and analyzed using Principal Components Analysis (PCA) and discriminant function analysis. Identity and structure at the molecular level as examined with Randomly Amplified Polymorphic DNA (RAPDs) and band patterns were used to construct a cluster analysis. Past gene flow was identified by combining cluster analysis and biogeography data. Results support the current species delineation by affirming the S. virginiana/S. corymbosa species boundary. Patterns of variation found within S. virginiana indicate that there is some degree of relatedness along short reaches of a single river and that within a secondary drainage basin a downstream distribution of propagules from multiple tributaries results in a mix of phenotypes. Patterns of variation further indicate that past gene flow had occurred across drainages suggesting a pattern of migration during Pleistocene glaciation. Results place the S. virginiana ancestral population in the southern part of its range suggesting a southward migration followed by recolinization northward, concordant with the work of Delcourt and Delcourt (1981, 1984). Biogeographical patterns of variation within S. virginiana identify the Cumberland Plateau as a migratory route. In addition, evidence suggests that the deeply dissected Cumberland Plateau is the probable site of a Pleistocene refugium.
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48

Barker, Carl. "Ecological, genetic and metabolic variation in populations of Tilia cordata." Thesis, Edge Hill University, 2017. http://repository.edgehill.ac.uk/10392/.

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Predicting the responses of tree species to rapid environmental change requires an understanding of their ecology, reproductive strategy, population connectivity and levels of adaptive variation. This project examines these aspects for an understudied UK native tree genus Tilia L. Comparison of edaphic and physiographic variables indicated that Tilia cordata Mill. is more generalist than T. platyphyllos Scop., as well as preferring locations with higher potential incident solar radiation and greater levels of organic carbon content. Examination of fine-scale spatial genetic structure indicates that T. cordata has a mixed reproductive system with approximately half of all individuals within sampled populations being of clonal origin. The incidence of clonality was weakly negatively correlated to historic summer temperatures and positively so to the proportion of canopy trees within samples, suggesting both fertility limitations and time since disturbance affect vegetative growth in the species. Clonal reproduction is not expected to impact future outcrossing success due to the fine scale of its effects on spatial genetic structure, being much smaller than typical pollen movements associated with outcrossing. T. cordata populations exhibited weak clinal spatial genetic structure at coarser scales (tens of kilometres) across two locations, which likely reflect historic dispersal limitations across a contiguous landscape and effective pollen movement at scales less than two kilometres. Fragmentation has not yet eroded genetic variation except in the demes with the smallest size (not necessarily the most isolated), suggesting that larger fragments may ultimately suffer the same fate. Finally, low metabolic variation between UK populations of T. cordata despite contrasting environmental conditions during sampling indicates high levels of phenotypic plasticity, while variation in a functional trait and a group of unidentified metabolite concentrations suggest avenues for examining local adaptation in the future.
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49

Desai, Kinjal. "Characterizing the impact of single nucleotide variation in breast cancer." Thesis, Dartmouth College, 2016. http://pqdtopen.proquest.com/#viewpdf?dispub=10144817.

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Genome sequencing technology has enabled the identification of genetic variants that are linked with cancer phenotypes, whether these are somatically acquired mutations or common inherited single nucleotide polymorphisms (SNPs). Whereas coding variants have been reported to disrupt protein function to promote cancer, most variants map to noncoding regions, with no known function. Recently, much effort has gone into annotating the human noncoding genome, enabling the characterization of the functional basis of noncoding SNPs. As an example of functional impact, breast cancer (BrCa) risk-associated SNPs can alter transcription factor binding at distal enhancers.

Identifying the targets of risk SNPs remains a challenge. One reason for this is the complex three-dimensional structure of the genome. Local chromatin openness correlates with chromatin activity, and sites of chromatin that are open concurrently across multiple cell types indicates a functional relationship between them. We mapped BrCa risk-associated SNPs to regions of open chromatin to predict the most likely functional risk SNPs. Then, we predicted their targets by identifying the gene promoters whose openness correlated with these risk regions. Further, we validated a gene which is a novel therapeutic target and relevant in breast cancer biology.

In addition to SNPs, noncoding somatic mutations are also predicted to play a role in cancer. In 2012, driver mutations were reported in the telomerase gene promoter, hinting at the relevance of mutations in regulatory elements. This is particularly true when considering oncogenes whose elevated expression in certain cancers is not attributable to coding mutations or copy number amplification. We reveal the enrichment and functional nature of somatic mutations mapping to enhancers that regulate the estrogen receptor gene, which is known to drive over two-thirds of breast cancer.

Attributing function to noncoding SNPs and mutations associated with cancer risk and progression is a growing necessity in this era of whole-genome cancer biology. This thesis demonstrates a methodology to identify the functional consequence and gene targets of significantly mutated or risk variant-bearing enhancer sets to narrow the gap between known and unknown risk factors in BrCa.

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50

San, Martin Elena. "Latitudinal variation in plankton size spectra along the Atlantic Ocean." Thesis, University of Southampton, 2005. https://eprints.soton.ac.uk/41351/.

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Abundance-size distributions of organisms within a community reflect fundamental properties underlying population dynamics. These include characteristics such as predator to prey biomass ratios, given the relationships that exist between body mass and metabolic activity, and between body mass and the ecological regulation of population density. In this way, plankton size has an important role in structuring the rates and pathways of material transfer in the marine pelagic food web, and consequently the oceanic carbon cycle. The transfer of energy between trophic levels can be inferred from regular patterns in population size structure, where plots of abundance within size classes, also known as plankton size spectra, typically show a power-law dependence on size. Metabolic theory, based on such size relations, has provided the basis for using an allometric approach to investigate the metabolic balance of the Atlantic Ocean and to identify the main drivers of trophic status in the plankton community. Samples were collected during three Atlantic Meridional Transect (AMT) cruises with further samples from a Marine Productivity (MarProd) cruise in the Irminger Sea. Three image analysis instruments were used to obtain plankton size spectra in the pico- to mesozooplankton size range. Data from a decadal time series at a coastal station off Plymouth, UK additionally enabled seasonal trends in plankton size spectra to be interpreted. Allometric relationships were also derived from physiological rates of individual plankton and scaled from organisms to ecosystems using community size structure data that were obtained from six earlier AMT cruises. Contrary to common perception, the transfer efficiency between phytoplankton and mesozooplankton in the Atlantic was not related to ecosystem productivity in oceanic and coastal systems. The flow of carbon up the food web was controlled by how quickly the consumers are able to respond to a resource pulse. These findings have fundamental implications for upper ocean carbon flux and suggest that global carbon flux models should reconsider the differences in carbon transfer efficiency between productive and oligotrophic areas of the world’s ocean. The allometric models of microbial community respiration and production provide a complementary method for understanding the metabolic balance of the upper ocean. Respiration exceeded photosynthesis in large areas of the Atlantic Ocean, suggesting that planktonic communities act as potential net sources of CO2. Large-sized phytoplankton are suggested as the main drivers of the balance between net autotrophy and heterotrophy.
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