Dissertations / Theses on the topic 'Genetic Characterization'
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Rosales-Alday, Javier. "Mexican simmental-brahman genetic characterization, genetic parameters and genetic trends." [Gainesville, Fla.] : University of Florida, 2004. http://purl.fcla.edu/fcla/etd/UFE0004581.
Full textShareck, Julie. "Isolation and characterization of a cryptic plasmid from Lactobacillus plantarum." Thesis, McGill University, 2005. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84072.
Full textEzpeleta, Jessica. "The characterization of the ABF-1 promoter." Scholarly Commons, 2001. https://scholarlycommons.pacific.edu/uop_etds/559.
Full textKjellman, Magnus. "Genetic characterization of adrenocortical tumors /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3358-8/.
Full textCamp, Darius. "Genetic characterization of clk genes." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=100781.
Full textThrough this approach one mutant that suppresses the germline phenotype of clk-1 was identified. This suppressor, gsc-1(qm216), restored clk-1 germline development to slightly faster rates than wild type worms. This effect was specific to clk-1 and gsc-1 did not speed germline development rates in wild type worms. Furthermore, this effect appeared to be additive to lowering cholesterol levels but not to increasing cytoplasmic ROS levels. gsc-1 by itself appeared to have a deleterious effect on brood size and to increase lifespan. Neither of these effects were additive to the clk-1 phenotype and were therefore believed to affect similar mechanisms. The genetic mapping of gsc-1 precisely located the mutation to the center of chromosome II and linked it tightly to the lin-5 mutation. However, none of the transgenic lines managed to complement the gsc-1 mutation and its identity was not discovered.
In addition, to determine the role of reactive oxygen species (ROS) in the Clk phenotype, I have been analyzing all clk mutants (clk-1 to -10), by increasing ROS levels through the disruption of sod-1 and sod-2 genes, and scoring Clk phenotypes. I found that, although several clk mutants appear to have altered ROS levels, the phenomenon does not apply to all clk worms and does not correlate with lifespan. The disruption of either sod-1 or -2 affects growth and embryonic viability: sod-2 tends to exacerbate the mutant phenotypes, while sod-1 shows both weakly enhancing or weakly suppressing effects. Interestingly, only one mutant, clk-4, and only one phenotype of this mutant, slow post-embryonic development, is suppressed by sod-2 (but not sod-1). Furthermore, disrupting the expression of the sod-1 gene has only moderate or no effect on the lifespan of wild type worms, while sod-2 was shown to extend lifespan. On the whole, our results suggest that low superoxide levels do not participate in extending lifespan and are not the common process inducing the Clk phenotype in these mutants. Yet, several of the mutants analyzed have a dramatically increased lifespan and specifically behave like mutants which affect mitochondrial electron transport such as isp-1. Thus, our findings suggest that electron transport has a crucial role in longevity and developmental rates that is independent of superoxide generation.
Fourie, Mariesa. "Molecular characterization and further shortening of recombinant forms of the Lr19 translocation." Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/189.
Full textJohnstone, Oona. "Characterization of the Vasa-eIF5B interaction during Drosophila development." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84265.
Full textStephens, Alexandre, and N/A. "Genetic and Functional Characterization of RUNX2." Griffith University. School of Medical Science, 2007. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20070823.100953.
Full textStephens, Alexandre. "Genetic and Functional Characterization of RUNX2." Thesis, Griffith University, 2007. http://hdl.handle.net/10072/365677.
Full textThesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Medical Science
Faculty of Health
Full Text
Zhou, Gaoying, and 周高英. "Molecular characterization of chicken SOCS2 gene." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B31480263.
Full textBech, Linda. "Genetic and phenotypic characterization of trypanosomas." Thesis, Mälardalen University, School of Sustainable Development of Society and Technology, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:mdh:diva-6435.
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Trypanosoma theileri, of the subgenus Megatrypanum, a non-pathogenic cosmopolitan blood dwelling parasite of bovine. T. theileri can be cultured at room temperature in several culture media.
Blood samples were collected from deer's. To see if the blood was infected with trypanosomes it was cultivated in 2 ml sheep blood or cell cultivation medium DMEM with antibiotics.
Growth was detected by microscopy to see if there were any trypanosomes.
To determine the species of trypanosomes that was in the deer blood a DNA-preparation was done before a Polymerase Chain Reaction (PCR) could be done. With sequencing the trypanosomes where determined to be Trypanosoma theileri.
Different tests were made to see in what way the trypanosomes best were caught to the objective slides.
Forty samples of borrelia positive serum from forty different patients were tested with the fluorescent microscopy. Forty different samples from blood donors were tested the same way.
Blood samples from 16 different fissiped were taken and to see if they were infected with trypanosomes. Three different PCR's were done on the 16 blood samples.
A small test on human blood was also performed.
Protein identification by immunoblot with western blot and silver staining was done.
With the electron microscopy tests were done in the ordinary way and Critical Dry Point to see if both of the techniques worked.
Enzyme-Linked Immuno Sorbent Assay (ELISA) test were accomplished on two 96 well plates. The wells on the plates were diluted in different ways before they were processed.
Prior, Heather Marie. "Genetic characterization of human SOX genes." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape2/PQDD_0029/NQ59655.pdf.
Full textHouston, Peter Louis. "Biochemical characterization of genetic recombination proteins /." Digital version accessible at:, 1998. http://wwwlib.umi.com/cr/utexas/main.
Full textSantos, Tânia Raquel Martins dos. "Genetic characterization of Portuguese Fasciola hepatica isolates." Master's thesis, Faculdade de Ciências e Tecnologia, 2012. http://hdl.handle.net/10362/8689.
Full textPart of the results discussed in this dissertation was presented in the following communications: R. Santos, M. Calado, J. Sampaio, C. Ferreira, A. Afonso and S. Belo. Contribution to the genetic characterization of Fasciola hepatica populations in Portugal. XXXVII Portuguese Genetic Conference, Lisbon, Portugal, May 28th-30th 2012 [poster communication] R. Santos, M. Calado, J. Sampaio, C. Ferreira, A. Afonso and S. Belo. Contribution to the genetic characterization of Fasciola hepatica populations in Portugal. Arquivos Portugueses das Ciências Biológicas. Tomo XXXVI (in press)
Fasciola hepatica is a parasitic trematode with debilitating and socio-economically devastating effects. At present near to 600 million animals and 2.4 million people in the entire world suffer from fascioliasis. Genetic characterization is of the utmost importance to an efficient epidemiologic control of helminth infections. In the present study we aimed to provide the first insights into the genetic variability of F. hepatica in Portugal. 47 isolates from different hosts (cattle and sheep) and geographical locations (Beja, Castelo Branco, Coimbra, Évora, Faro, Leiria, Lisboa, Portalegre, Santarém and Setúbal) were analyzed through Random Amplified Polymorphic DNA-Polymerase Chain Reaction (RAPD-PCR), Restriction Fragment Length Polymorphism (RFLP) and sequencing of NADH dehydrogenase subunit 1 (nad1) gene, cytochrome c oxidase subunit 1 (cox1) gene and Internal Transcribed Spacers (ITS) region. RAPD-PCR and RFLP patterns were similar for all the analyzed samples, despite their host and geographical origin. Nucleotide sequencing revealed low levels of genetic diversity within Portuguese isolates and no direct correlation was observed between haplotype and geographical location or host. Phylogenetic analysis revealed a high similarity within samples from Mediterranean countries, such as Portugal, Spain, Tunisia, Algeria and Egypt, possibly due to livestock import/export trade between these countries. Moreover, Portugal presents a low risk of fascioliasis drug-resistance.
Hibbets, Eric Matthew. "Molecular Characterization of Hybridization Between Magellanic (Spheniscus magellanicus) and Humboldt (Spheniscus humboldti) Penguins in the Wild." Bowling Green State University / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1562071641076803.
Full textLam, Ho-yin, and 林灝賢. "The prevalence and genomic characterization of HIV-1 unique recombinant forms in Hong Kong." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B45719007.
Full textDelaney, Deborah A. "Genetic characterization of U.S. honey bee populations." Online access for everyone, 2008. http://www.dissertations.wsu.edu/Dissertations/Summer2008/d_delaney_070108.pdf.
Full textGUILLEN, JEFF MAYNARD. "STUDIES ON RESERVOIR CHARACTERIZATION VIA GENETIC PROGRAMMING." PONTIFÍCIA UNIVERSIDADE CATÓLICA DO RIO DE JANEIRO, 2015. http://www.maxwell.vrac.puc-rio.br/Busca_etds.php?strSecao=resultado&nrSeq=25771@1.
Full textCOORDENAÇÃO DE APERFEIÇOAMENTO DO PESSOAL DE ENSINO SUPERIOR
CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO
PROGRAMA DE EXCELENCIA ACADEMICA
Na área de exploração e produção de petróleo são alocados grandes investimentos para conseguir diminuir os riscos associados à baixos níveis de produção, que podem ser minimizados mediante a acertada caracterização do reservatório de petróleo. Uma valiosa fonte de informação pode ser extraída de dados sísmicos 3D, obtidos do campo em estudo. O custo econômico de aquisição de esta base de dados para o reservatório completo é relativamente baixo, se comparado com uma amostragem direta por meio de perfurações de poços. Embora, a relação entre os dados sísmicos e as propriedades de reservatório seja considerada ambígua, esta deve ser integrada com informação confiável, como aquela obtida mediante perfilagem de poços. Fazendo uso dos abundantes dados sísmicos e das escassas, mas, precisas medições em perfurações existentes, foi desenvolvido neste trabalho um sistema baseado no algoritmo de Programação Genética (PG) para caracterizar geologicamente um reservatório de petróleo. PG é uma técnica de computação evolucionária capaz de estimar relações não lineares entre um conjunto de entrada e de saída, mediante uma expressão simbólica explícita. Para extrair informação adicional nos registros sísmicos são calculados atributos sísmicos, que facilitam a identificação de características estratigráficas ou estruturais do subsolo representadas indiretamente pela sísmica. Adicionalmente, é utilizado o método de inversão sísmica para o cálculo da impedância acústica, que é uma variável auxiliar derivada de sísmica calibrada com perfis de poço. Os atributos sísmicos junto com a impedância acústica servirão para a estimação de propriedades geológicas. Esta metodologia de trabalho foi testada em um reservatório real de grande complexidade geológica. Por meio de PG, foi representada satisfatoriamente a relação entre dados derivados da sísmica e a porosidade do campo, demostrando assim que PG é uma alternativa viável para a caracterização geológica de reservatórios. Posteriormente, foi realizada uma clusterização do campo baseada em características geofísicas que permitiram a construção de estimadores por PG especializados para cada zona.
In the field of oil exploration and production a great deal of investment is allocated in reducing the risks associated to low production levels that can be minimized through an accurate oil reservoir characterization. A valuable source of information can be extracted from 3D seismic data, obtained from the studied reservoir. The economic cost of the acquisition of this data base for the whole reservoir is relatively low, if compared to the direct sampling method of well drilling. Being that the relationship between seismic data and reservoir properties is considered ambiguous, it must be integrated with reliable information, such as that obtained by well logging. Making use of abundant seismic data and scarce, yet accurate, measurements from the existing drillings, it was developed in this study a system based in the algorithm of Genetic Programming (GP), to geologically characterize an oil reservoir. GP is an evolutionary computational technique capable of estimating the non-linear relationships between input and output parameter, through an explicit symbolic expression. In order to extract additional information from seismic records, seismic attributes are calculated, which facilitate tasks of identifying stratigraphic and structural characteristics of the subsurface, represented indirectly by seismic data. Moreover, a seismic inversion method is used to estimate the acoustic impedance, an auxiliary variable derived from seismic data calibrated by well logs. The seismic attributes along with the acoustic impedance will be used to estimate geological properties. This workflow was tested on a real reservoir, thus presenting geological complexity. Through GP, the relationship between seismic derived data and the field porosity was represented satisfactorily, demonstrating that GP is a viable alternative for geologic reservoir characterization. Afterwards, the reservoir was divided in clusters according to geophysical properties, this allowed the construction of GP based estimators for each zone.
Dilawari, Mridull. "Genetic Characterization of Dormancy in Durum Wheat." Diss., North Dakota State University, 2012. https://hdl.handle.net/10365/26476.
Full textZulu, Dackson Nkonje. "Genetic Characterization of Zambian Native Cattle Breeds." Thesis, Virginia Tech, 2008. http://hdl.handle.net/10919/35210.
Full textMaster of Science
Marques, Vanessa Alexandra Freire. "Genetic and epigenetic characterization of laryngeal carcinoma." Master's thesis, Universidade de Aveiro, 2015. http://hdl.handle.net/10773/15016.
Full textLaryngeal carcinomas belong to a bigger family of tumours known as Head and Neck Cancer (HNC). HNC is the sixth most malignant type of cancer in the world and it can arise from several anatomical sites. Among them, the larynx is the second most common affect organ. The incidence of laryngeal carcinoma is 1,9% worldwide and it presents a high mortality rate (1,6%). Despite technological advances in diagnosis and treatment fields, the 5 year-survival rate did not improved significantly. The low survival rates are mainly explained by a late diagnosis, tumour aggressiveness and the fact that laryngeal carcinoma metastasize easily. Taking this into consideration, it is essential to identify biomarkers with significant diagnostic and prognostic value in order to anticipate the detection of laryngeal carcinoma in an early stage. This study arises mainly for characterize the genetic and epigenetic profile of laryngeal squamous cell carcinoma (LSCC). Eight LSCC samples and seven non-tumour samples contralateral to the primary tumour were collected upon resection surgery and characterized by MLPA, MS-MLPA and array CGH. The results showed that gain of genetic material was mainly present in chromosomes 3q, 8q, 11q, 14q13.1, Xp22.31 and Xq21.1 while genetic loss occurred mainly in chromosomes 3p, 9p23.1 and Y. Gain of MYC and TNFRSF1A was the most common event among the tumour samples included in this study. Regarding the methylation profile, the genes CDKN2A, CHFR, RARβ e RASSF1 were the only ones which were methylated in this samples. In conclusion, this study allowed to identify genetic alterations associated with LSCC that have already been reported in scientific papers as well as alterations that have been associated with tumour development and progression. In addition, a few genetic alterations which have never been reported as being associated with human cancer before were identified. Nevertheless, new studies must be carried out, with a higher number of samples. Ultimately, the main goal would be to identify genetic alterations significantly associated with LSCC progression and establish a correlation with clinicopathological data.
O carcinoma da laringe pertence a uma grande família de tumores conhecida como Cancro da Cabeça e do Pescoço que é considerado o sexto tipo de tumor mais maligno em todo o mundo. Dentro desta família, os tumores podem ter origem em diversos locais anatómicos, sendo a laringe o segundo órgão mais comummente afetado. O cancro da laringe apresenta uma incidência mundial de 1,9% e uma taxa de mortalidade elevada de 1,6%. Apesar dos avanços tecnológicos na área do diagnóstico e da terapêutica, a taxa de sobrevivência ao fim de 5 anos não apresentou melhorias significativas. As baixas taxas de sobrevivências são explicadas essencialmente pelo diagnóstico tardio, pela agressividade do tumor e pela sua propensão a desenvolver metástases. Desta forma, torna-se essencial a identificação de biomarcadores com valor de diagnóstico e prognóstico a fim de detetar a presença do tumor numa fase mais precoce. Este estudo surge com o objetivo principal de caracterizar o perfil genético e epigenéticos do carcinoma das células escamosas da laringe com recurso às técnicas de MLPA, MS-MLPA e array CGH, usando oito amostras tumorais e sete amostras não-tumorais contra laterais ao tumor, ambas coletadas após cirurgia A análise genética revelou uma maior taxa de ganho de material genético nos cromossomas 3q, 8q, 11q, 14q13.1, Xp22.31, Xq21.1 e perda de material genético nos cromossomas 3p, 9p23.1 e Y. O ganho dos genes MYC e TNFRSF1A revelou ser o evento mais comum entre as amostras analisadas. Relativamente ao perfil epigenético, observou-se que os genes CDKN2A, CHFR, RARβ e RASSF1 se encontravam metilados nas amostras em estudo. Em suma, este trabalho permitiu identificar algumas alterações genéticas e epigenéticas descritas na literatura como estando associadas ao CCEL, assim como alterações associadas ao desenvolvimento tumoral. Foram ainda identificadas alterações que ainda não foram reportadas como estando associadas ao cancro. Desta forma, este estudo piloto permitiu dar início ao estudo de potenciais biomarcadores associados ao CCEL. Porém, novos estudos devem ser realizados, com um número de amostras superior, de forma a identificar alterações genéticas significativas no desenvolvimento e progressão do CCEL e associa-las às características clinico patológicas dos doentes.
Kim, Eejung. "Functional characterization of genetic alterations in cancer." Thesis, Harvard University, 2016. http://nrs.harvard.edu/urn-3:HUL.InstRepos:33493591.
Full textMedical Sciences
Haußig, Joana. "Genetic characterization of Plasmodium berghei apicoplast proteins." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2013. http://dx.doi.org/10.18452/16808.
Full textMalaria is caused by Plasmodium, an obligate intracellular eukaryotic pathogen that belongs to the phylum Apicomplexa. Apicomplexan parasites harbor an unusual plastid organelle, termed apicoplast. Because this unique organelle is indispensable for parasite growth it is a validated and attractive drug target. Using the rodent malaria parasite Plasmodium berghei, two different aspects of apicoplast protein functions were analyzed in this study. Firstly, a previously uncharacterized Plasmodium apicoplast protein, Plasmodium-specific Apicoplast protein important for Liver Merozoite formation (PALM), was investigated. Three independent palm— knockout parasite lines were generated by targeted gene deletion. While the resulting knockout mutants developed normally for most of the life cycle, merozoite release into the blood stream and the ability to establish an infection was severely impaired. Experimental immunization of mice with palm— sporozoites elicited unprecedented potent and long-lasting protection against malaria re-infection. The results indicate that a tailor-made arrest in the final steps of hepatic merozoite formation could be an improvement over first-generation early liver-stage genetically arrested parasites (GAPs). Secondly, the six nuclear-encoded components of the apicoplast [Fe-S] cluster biosynthesis pathway were systematically targeted by experimental genetics. Together, my studies show that the Plasmodium apicoplast harbors previously unrecognized targets for anti-malaria intervention strategies.
Labreche, Karim. "Genetic Susceptibility and Molecular Characterization of Glioma." Thesis, Université Paris-Saclay (ComUE), 2018. http://www.theses.fr/2018SACLS161/document.
Full textGliomas are the most common adult malignant primary tumour of the central nervous system. Thus far, no environmental exposures has been linked to risk except for ionizing radiation, which only accounts for a very small number of cases. Direct evidence for inherited predisposition to glioma is provided by a number of rare inherited cancer syndromes, such as Turcot's and Li–Fraumeni syndromes, and neurofibromatosis. Even collectively, these diseases however account for little of the twofold increased risk of glioma seen in first-degree relatives of glioma patients. My research was centred on two complementary research activities: Identifying susceptibility genes for glioma to delineate key biological pathways contributing to disease pathogenesis and to identify new recurrent mutated genes for glioma to provide for further insights into glial oncogenesis and suggesting targets for novel therapeutic strategies. Collectively the findings in this thesis provide increased insight into the nature of genetic predisposition to glioma and substantiate the often distinct associations between susceptibility variants and glioma molecular groups. In addition the discovery of a new mutated gene in glioma offers the potential to support drug development and advance precision medicine for this tumours
Tarlarini, C. "MOLECULAR AND GENETIC CHARACTERIZATION OF ALS PATIENTS." Doctoral thesis, Università degli Studi di Milano, 2014. http://hdl.handle.net/2434/232574.
Full textZhang, Ling 1962. "Molecular cloning and characterization of the chicken ornithine decarboxylase gene." Thesis, McGill University, 1994. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=22831.
Full text葉志遠 and Chi-yuen Ip. "Characterization of the 5'flanking transcriptional regulation region of the chicken growth hormone gene." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31226115.
Full textLau, Suk-ling Joanna, and 劉淑玲. "Molecular characterization of the chicken growth hormone receptorgene." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B45015430.
Full textGarcía, Eusebi Paulina. "Genetic characterization of the Mexican Bovine Lidia Breed." Doctoral thesis, Universitat Autònoma de Barcelona, 2018. http://hdl.handle.net/10803/666836.
Full textThe cattle of the Lidia breed have been selected during centuries for behavioral related traits, a peculiarity that distinguishes it from the rest of the bovine breeds, selected mostly for characteristics of productive interest, such as meat and milk. In Spain, the original Lidia population has been studied through genomic data, allowing to know that the genetic richness of the breed is owed to the contribution of each of the multiple lineages or encastes in which it is subdivided. In Mexico, the Lidia breed represents an important historical and cultural legacy and currently, its population has not been genetically characterized. In this thesis we analyze the genetic diversity and structure of the Mexican population and compared it with data from the original Spanish population by using genomic information derived from different types of molecular markers. First, we analyzed parameters of genetic diversity in both populations using Microsatellite and Single Nucleotide Polymorphisms autosomal markers, finding similar values of expected heterozygosities with both types of molecular markers. We found also high values in terms of FIS in both populations. Both, the high values of FIS in the lineages and the behavior of the Runs of Homocigosity are a consequence of the lineages´ low census, contributing hence to increase the inbreeding rate. Furthermore, we detected high genetic differentiation between populations with both types of molecular markers: microsatellite and SNP, and the partition of the total genetic variability analyzed with SNPs showed that 19% of the variation is explained by the genetic differences among lineages within populations. Curiously, the genetic structure of the Mexican population revealed that it shares few common genetic origins with the original Spanish population, placing both populations in different groups. The Y chromosome analysis evidenced the paternal footprint that Casta Navarra has left in the Mexican population through a high frequency of the H6 Haplotype, exclusive of this lineage. Mitochondrial DNA analyzes, on the other hand, revealed similar haplotype patterns in both populations. Finally, considering the peculiarity of the selection performed in this breed, we carried out an analysis to detect signatures of selection that could affect agonistic behavioral related traits, using as a reference two tamed Spanish breeds. Using two methods based on Bayesian inferences, we jointly identified two selected genomic regions. Also, the direction and intensity in the frequency of the allele selected of the Lidia breed is opposite to that of the tame breeds. In these regions were detected genes associated to metabolic pathways such as serotonin and dopamine, as well as genes expressed in the brain cortex, which have been related to patterns of aggressive behavior in humans and laboratory animals.
Sahlqvist, Anna-Stina. "Genetic Characterization of Chicken Models for Autoimmune Disease." Doctoral thesis, Uppsala universitet, Autoimmunitet, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-182843.
Full textGarrine, Carmen Maria Lucas Pedro. "Genetic characterization of indigenous goat populations of Mozambique." Diss., University of Pretoria, 2007. http://upetd.up.ac.za/thesis/available/etd-05082008-145341.
Full textWallis), Adolfsen William W. (William. "Molecular genetic characterization of the Drosophila synaptotagmin family." Thesis, Massachusetts Institute of Technology, 2005. http://hdl.handle.net/1721.1/31189.
Full textIncludes bibliographical references.
Proper functioning of the nervous system requires fast, spatially-restricted neuron- neuron communication at synapses. Classic physiology studies have demonstrated the importance of calcium in regulating synaptic communication; however the molecular events underlying basic synaptic transmission and plasticity have only recently become the subject of intense investigation in neuroscience. The synaptotagmin family of vesicle proteins has been implicated in calcium- dependent neurotransmitter release, although Synaptotagmin 1 (Syt 1) is the only isoform demonstrated to control synaptic vesicle fusion. We have characterized the six remaining synaptotagmin isoforms encoded in the Drosophila genome, including homologs of mammalian Synaptotagmins 4, 7, 12 and 14. Using immunolocalization and in situ hybridization experiments (Chapter 2), we demonstrate that each isoform has a unique subcellular localization and expression pattern, suggesting only Synaptotagmin 1 functions in synaptic vesicle exocytosis. Consistent with their distinct localizations, overexpression of Synaptotagmin 4 (Syt 4) or Synaptotagmin 7 (Syt 7) cannot functionally substitute for the loss of Syt 1 in synaptic transmission and loss-of-function mutations in Syts 4 and 7 do not have defects in neurotransmitter release (Chapter 4). Rather, Syt 4 and Syt 7 likely function in novel regulated-exocytosis pathways within neurons, distinct from synaptic vesicle cycling. The unique ability of Syt 1, but not other Syt isoforms, to localize to synaptic vesicles prompted us to determine the domains within Syt 1 responsible for its trafficking to synaptic vesicles (Chapter 3). We find the trafficking of Syt 1 is complex, likely requiring several sorting signals present at the N-terminus and in the C2 domains.
(cont.) The N-terminus was required for proper targeting to presynaptic terminals, while the C2 domains were essential for internalization at synapses. Furthermore, we demonstrate the C2 domains of Syts 4,7, [alpha] and [beta] can not promote localization to synaptic vesicles, even if mislocalized to presynaptic terminals, further arguing only Syt 1 is present on synaptic vesicles in vivo (Chapter 3). Like Synaptotagmin 1, Syt 4 is ubiquitously present at most, if not all synapses, but localizes to the postsynaptic compartment (Chapter 2). Syt 4 homologs have been identified in all metazoan genomes sequenced to date, suggesting this isoform may mediate an evolutionarily conserved role in postsynaptic vesicle trafficking. To elucidate the function of Syt 4-dependent postsynaptic vesicle trafficking we have generated and analyzed null mutations in syt 4. Although Syt 4 is not required for viability, embryonic neuromuscular junctions in mutant animals show a developmental delay in the formation of varicosities, a reduction in neurotransmitter release, and loss of a particular form of synaptic plasticity following high frequency stimulation, we have termed HFMR (High Frequency-induced Miniature Release). Postsynaptic expression of a syt4 transgene can rescue the presynaptic defects (Chapter 4), indicating Syt 4 mediates a retrograde signaling pathway at synapses. In addition, we demonstrate Syt 4 cycles through the postsynaptic plasma membrane (Chapter 4), suggesting it may regulate secretion of retrograde signals in a manner analogous to Syt 1 regulation of neurotransmitter release, presynaptically. There is mounting evidence in several experimental systems for a regulated form of postsynaptic vesicular trafficking.
(cont.) Dendritic release of a number of neuromodulators such as dopamine, ATP, GABA, and neuropeptides has been documented, while postsynaptic vesicles within dendritic spines and shafts have been directly visualized using electron microscopy. Studies in hippocampal culture neurons indicate that long-term labeling with FMI-43 loads dendritic organelles that undergo rapid calcium-triggered exocytosis. The localization and evolutionary conservation of Syt 4 makes it an attractive candidate for mediating a postsynaptic trafficking pathway common to all metazoan synapses. Indeed, localization studies of Syt 4 in mammals have noted the presence of the protein within dendrites and soma, similar to our studies in Drosophila. Utilizing the exceptional genetic tools available to Drosophila, we expect the characterization of Syt 4 and this novel retrograde signaling pathway will lead to new and exciting insights into the role of this protein family in fundamental synapse biology.
by William W. Adolfsen.
Ph.D.
Whichard, Jean Marie. "Bacteriophage Felix O1: Genetic Characterization and Bioremedial Application." Diss., Virginia Tech, 2000. http://hdl.handle.net/10919/29591.
Full textPh. D.
Schop, Roelandt François Johannes. "Studies on the genetic characterization of Waldenström macroglobulinemia." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 2008. http://hdl.handle.net/1765/13519.
Full textANNUNZIATA, SILVIA. "Genetic and phenotypic characterization of Autism Spectrum Disorders." Doctoral thesis, Università degli studi di Pavia, 2022. http://hdl.handle.net/11571/1452943.
Full textSALSANO, ETTORE. "Clinical and Genetic Characterization of Leukoencephalopathies in Adults." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2022. http://hdl.handle.net/10281/374739.
Full textBackground In adults, many cases (about 30-40%) of leukoencephalopathies (LKENs), i.e. white matter (WM) diseases, are without definitive diagnosis. Patients who remain undiagnosed despite extensive investigations may have atypical forms of known acquired or genetic diseases, or novel diseases more likely genetic in nature. Aims of our work were to explore the efficiency of a systematic approach, including next generation sequencing (NGS), in the diagnosis of a cohort of adult patients with LKEN of unknown cause, and to describe their clinical features. Patients and Methods In this analytical observation study, we first reviewed the clinical and laboratory features of the adult patients (age >= 18 years) with undiagnosed LKEN assessed at the Unit of Rare Neurodegenerative and Neurometabolic Diseases of the Istituto Neurologico “C. Besta”, Milan, Italy, from 2012 to 2018. A targeted-gene panel sequencing (TGPS) was subsequently used to investigate 142 genes responsible for genetic LKENs, and a whole-exome sequencing (WES) was performed in one familial case remained undiagnosed. Results We identified 57 adult patients with LKEN of unknown cause (mean age 43 years, range 18-72; 23 males; 53 with late-adolescence or adult-onset). Thirty of them, henceforward called hypomyelinating leukoencephalopathies (HypoLKENs), presented an MRI pattern suggestive of hypomyelination (mild T2-hyperintensity and normal T1 signal), whereas the remaining 27 (henceforward called demyelinating leukoencephalopathies, DemLKENs) had an MRI pattern suggestive of demyelination (prominent T2-hyperintensity and prominent T1-hypointensity). In 13 HypoLKENs, TGPS identified the disease-causing genes, i.e., POLR3A (n = 2), POLR1C, TUBB4A, RARS1, GJA1, PLP1, GJC2, TBCD, CYP7B1, SPG11, PEX3, and PEX13, while in two further patients, WES led to the identification of a novel disease-causing gene (preliminarily called GENE_A). In contrast, TGPS identified the disease-causing gene (i.e., AUH) in only one (out of 27) DemLKEN patient affected by methylglutaconic aciduria type 1. In two other DemLKEN patients, the diagnosis was made on the basis of their clinical and MRI features directly by single gene analysis (PSAP-related metachromatic leukodystrophy), or by skin biopsy after negative results of TGPS (neuronal intranuclear inclusion disease, NIID). Three patients (one with HypoLKEN and two with DemLKEN) had acquired diseases mimicking a leukodystrophy, i.e., a primary cerebral vasculitis (diagnosed by brain biopsy without genetic analyses) and rare variants of multiple sclerosis, diagnosed after negative results of TGPS. Finally, in eight subjects with an incidentally found DemLKEN who remained without clinical manifestations over a long period of time, no mutation was found by TGPS. Conclusions In adults, a hypomyelinating pattern characterizes a large number (about 50%) of LKENs of unknown cause. HypoLKENs are most commonly due to genes causing severe early-onset hypomyelinating leukodystrophies (HLDs), such as POLR3A and TUBB4A, or can be due to genes associated with hereditary spastic paraplegias, such as CYP7B1 and SPG11, peroxisomal biogenesis disorders, such as PEX3 and PEX13, or even novel disease-causing genes. Among the DemLKENs of unknown cause, only very few are diagnosed by TGPS if clinical and paraclinical data pointing toward specific diagnoses are lacking. Occasionally, atypical variants of acquired WM diseases can mimic a genetic leukoencephalopathy with demyelinating or hypomyelinating features on MRI. Finally, a subset of DemLKENs characterized by lack of neurological manifestations and no mutation after comprehensive NGS testing may constitute a novel entity we termed subclinical diffuse leukoencephalopathy (SDL).
Woo, Andrew Jonghan. "Characterization and identification of transcription factors that bind to the tumor necrosis factor -308 polymorphism." University of Western Australia. School of Biomedical and Chemical Sciences, 2003. http://theses.library.uwa.edu.au/adt-WU2004.0044.
Full textZhang, Xue-Cheng. "Functional characterization of the Arabidopsis disease resistance gene RPS4." Diss., Columbia, Mo. : University of Missouri-Columbia, 2005. http://hdl.handle.net/10355/5826.
Full textThe entire dissertation/thesis text is included in the research.pdf file; the official abstract appears in the short.pdf file (which also appears in the research.pdf); a non-technical general description, or public abstract, appears in the public.pdf file. Title from title screen of research.pdf file viewed on (November 27, 2006) Vita. Includes bibliographical references.
Chu, Ying-ying Jamie. "Characterization of the promoter of dehalogenase IVa gene of Burkholderia sp. MBA4." Click to view the E-thesis via HKUTO, 2006. http://sunzi.lib.hku.hk/hkuto/record/B37840150.
Full textChu, Ying-ying Jamie, and 朱盈盈. "Characterization of the promoter of dehalogenase IVa gene of Burkholderia sp. MBA4." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B37840150.
Full textHui, Koon-chun Eleanor, and 許冠珍. "Characterization of PML/RARA fusion in acute promyelocytic leukemia: molecular cytogenetics study." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B45010080.
Full textWilliams, Bruce. "Isolation and characterization of abscisic acid-responsive, embryo specific genes from Zea mays." Thesis, McGill University, 1993. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=41786.
Full textGreberg, Maria Hellqvist. "Cloning and characterization of FREACs, human forkhead transcription factors." Göteborg : Dept. of Cell and Molecular Biology, Göteborg University, 1997. http://catalog.hathitrust.org/api/volumes/oclc/39751934.html.
Full textThaha, Fathuma Zuleikha. "Characterization of acetate metabolism genes in Sinorhizobium, Rhizobium, meliloti." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0016/MQ55093.pdf.
Full textSimmons, Mary Kecia Rigsby. "Genetic characterization of ribosomal protein L10 in Saccharomyces cerevisiae." College Park, Md. : University of Maryland, 2005. http://hdl.handle.net/1903/2659.
Full textThesis research directed by: Cell Biology & Molecular Genetics. Title from t.p. of PDF. Includes bibliographical references. Published by UMI Dissertation Services, Ann Arbor, Mich. Also available in paper.
Wu, Tsung-Sheng. "Functional characterization of sex hormone-binding globulin genetic polymorphism." Thesis, University of British Columbia, 2015. http://hdl.handle.net/2429/53980.
Full textMedicine, Faculty of
Obstetrics and Gynaecology, Department of
Graduate
Laramée, Louise. "Genetic characterization of a diclofop-methyl-degrading bacterial consortium." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp04/mq29733.pdf.
Full textKennett, Jennifer Yvonne. "Molecular genetic characterization of retinoblastoma tumors lacking RB1 mutations." Thesis, University of British Columbia, 2012. http://hdl.handle.net/2429/43791.
Full textTrottier, Oliver. "Genetic characterization of gamma-aminobutyrate metabolism in Sinorhizobium meliloti." Thesis, McGill University, 2008. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111551.
Full textMutation of sucB encoding a subunit of a-ketoglutarate dehydrogenase produced a mutant, Rm30230, that initially had difficulty growing on minimal media supplemented with either arabinose or glutamate. In symbiosis with alfalfa, Rm30230 had a fix- phenotype and was also devoid of alpha-ketoglutarate dehydrogenase activity. The ability of Rm30230 to grow on arabinose or glutamate, without alpha-ketoglutarate dehydrogenase activity, strengthens the hypothesis that S. meliloti has a functional GABA shunt allowing it to circumvent the forward-direction TCA cycle from alpha-ketoglutarate to succinate. Mutation of the second potential dihydrolipoamide succinyltransferase component (E2) of alpha-ketoglutarate dehydrogenase yielded Rm30267 (SMb20019) with wild-type growth on minimal media and a Fix+ phenotype in plants. The introduction or a sucB mutation into the SMb20019 mutant background (Rm30275) was comparable to the sole sucB mutation. This finding shows that the locus SMb20019 cannot be substituted for sucB in the alpha-ketoglutarate dehydrogenase enzyme complex.
Doyle, Caitlin. "Isolation and characterization of genetic modifiers of Arabidopsis RHD3." Thesis, McGill University, 2012. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=110637.
Full textRésumé Les poils absorbants sont de longues extensions cellulaires produits dans la racine au niveau de la zone pilifère. Le mutant root hair defective3 (rhd3) d'Arabidopsis produit des poils absorbants courts et malformé. RHD3 est une grande protéine de liaison de GTP. Récemment il a été démontré que RHD3 est impliquée dans la formation du réseau tubulaire du réticulum endoplasmique (RE), mais l'implication de RHD3 dans la malformation des poils absorbants reste à élucider. Pour mieux comprendre le rôle de RHD3 lors de l'élongation des poils absorbants, nous avons crée d'autres mutants à partir d'Arabidopsis thaliana rhd3. Ce criblage nous a permis d'identifier 10 nouveaux gènes impliqués dans la croissance de l'apex racinaire, nommés de ren1 à ren10. L'analyse de ces mutants a révélé qu'à l'exception de ren5 les 9 autres mutants sont des mutations ponctuelles récessives qui associées la mutation rhd3 affectent la formation des poils absorbants. Trois de ces mutations (ren6, ren7 et ren9) causent des phénotypes anormaux des poils absorbant en l'absence de la mutation rhd3. Les mutations restantes se répartissent en deux groupes : ren1, ren2 et ren8, qui sont difficile à interpréter et ren3, ren4 et ren10, qui ont la capacité d'affecter le développement des poils des racines seulement dans le cadre du mutant rhd3.Nous avons également étudié l'interaction entre rhd3 et deux autres gènes connus, shv2 et bot1, pour leur implication dans la formation des poils absorbants. Le gène shv2 code pour une protéine ancrée à un GPI (Glycosylphosphatidylinositol), semblable à la protéine COBRA. Le mutant shv2 ralentit l'allongement des poils. L'analyse du double mutant shv2/rhd3 a révélé que la mutation shv2 accentue le phénotype de rhd3. Le gène bot1 code pour une protéine semblable à la katanine qui sert à sectionner les microtubules. Le mutant bot1 est connu pour induire la formation ectopique de poils absorbants. Le double mutant bot1/rhd3 présente quant à lui un phénotype atténué de rhd3.