Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 76 for “"Genetic Loci"”.
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Genetic Loci Contributing to Spontaneous Autoimmune Diabetes
… is a prime laboratory animal for dissecting the genetics of T1D susceptibility without the need for external manipulation. The BB rat is comprised of two separate substrains; the diabetes prone (BBDP) and the diabetes resistant (BBDR). Failure to express the Gimap5 protein is associated with …
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Molecular and clinical profiling of immune disease genetic loci
… studies (GWAS) have identified numerous genetic variants linked to various traits and diseases, including immune-mediated diseases (IMD). However, understanding the downstream effects of these genetic variations, both at the molecular and clinical levels, has proven more challenging than …
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Identification of genetic loci underlying equine metabolic syndrome and laminitis risk
… disease, and identification of its underlying genetic risk factors and key gene-by-environment interactions will improve our understanding of EMS pathophysiology and allow for early detection of high-risk individuals and intervention prior to the onset of laminitis. We hypothesized that major …
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Multiple Genetic Loci Control Susceptibility and Disease Characteristics in Murine Experimental Allergic Encephalomyelitis
… different clinical subtypes of EAE are immunogenetically distinct. In addition, the severity, duration, and day of onset are genetically controlled. Lesion characteristics and location of lesions are modulated by numerous genetic factors and can be influenced by sex. Underlying genetic …
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IDENTIFICATION AND CHARACTERIZATION OF GENETIC LOCI FOR CULM MORPHOLOGY TRAITS IN BARLEY (HORDEUM VULGARE L.)
… has been widely used as a model species in plant genetics and breeding. Stem lodging is a major constraint to yield potential and grain quality in barley. Since the Green Revolution, height reduction has been the main target in breeding to overcome lodging occurrence. However, negative impact on …
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Characterisation of two genetic loci involved in fetal haemoglobin production: BCLIIA and HBSIL-MYB intergenic region
… We have previously mapped two quantitative trait loci (QTLs) controlling HbF levels, one in intron 2 of BCL11A gene, and the other, an intergenic region on chromosome 6 between the genes HBS1L and MYB, known as HMIP. Histone modification and RNA polymerase II binding at these loci and at the …
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Fine-Mapping Tools : an interactive framework for dissecting disease-associated genetic loci with functional genomics data
Fine mapping causal SNPs from GWAS summary statistics is hard. Although many frame- works exist to support fine mapping, some of which leverage epigenomic contexts to increase predictive power, they fail to provide interactivity. Here, we introduce Fine-Mapping Tools (fm-tools), a framework for …
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Variational Mixture Models for non-Gaussian observations: Applications to molecular data
Epigenetics is the field of biology that studies the changes in organisms due to alteration of gene expression rather than modification of the DNA sequence itself. DNA methylation is a well-studied type of epigenetic change, which results in gene silencing and can be dangerous when occurs at tumour …
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Tracking buffers of mutation and noise to the genome
Phenotypes are buffered from both genetic perturbations and developmental noise; however, the mechanisms by which this buffering occurs and its evolutionary relevance are poorly understood. In this dissertation, a combination of genetic and computational approaches were undertaken to not only …
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The Genetic Basis Of Natural Variation In The Timing Of Vegetative Phase Change In Arabidopsis Thaliana
… this problem, I assessed the phenotypic and genetic diversity in 100 natural accessions of A. thaliana. I found a wide range in the timing of vegetative phase change, that this transition is not correlated with reproductive phase change, and that miR156 and SPL gene expression were not …
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Use of Inbred Strains for the Study of Individual Differences in Pain Related Phenotypes in the Mouse
… phenotypic variability, both environmental and genetic. As genotypic databases become complete, computational methods for identification of the genetic loci associated with complex polygenic traits may be possible. The common genetic origin of the inbred strains, and the genetic similarity of …
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The Labrador Retriever as a Model of Naturally Occurring Myopia: Genetic and Environmental Contributions
… of naturally occurring myopia by identifying genetic and environmental factors which are associated with myopia development in the Labrador Retriever. Methods: A large pedigree of Labrador Retrievers was phenotyped for refractive error. Using statistical (familial aggregation) analysis, …
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Genetic and molecular characterisation of metabolic subphenotypes and their contribution to type 2 diabetes aetiology
Systematic assessment of the genetic architecture of type 2 diabetes (T2D) has allowed the identification of hundreds of genetic loci contributing to T2D risk. However, understanding how these loci contribute to the aetiological complexity of T2D has been more challenging. Using an …
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Whole genome sequencing approach to identifying genetic risk factors underlying anterior cruciate ligament injuries in a twin family study
… factor, but the majority of currently implicated loci have been identified through case-control genetic association studies, which are limited by a candidate gene approach and insufficient statistical power. The primary aim of this thesis was to use a whole genome sequencing (WGS) approach within …
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Induction, Selection, and Characterization of Ethylene -Insensitive Mutants in Antirrhinum Majus (Snapdragon)
… in generating mutants altered at different genetic loci and exhibiting enhanced traits including, vase-life, gravitropism, and rooting ability.
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Principled "convergence" non-coding rare variant association testing in complex disease
Although many genetic loci pertinent to complex diseases have been identified and despite the fact that complex diseases remain an immense burden to healthcare globally, many details about the mechanism of these diseases are still unknown. Thus far, genome-wide association studies (GWAS) have only …
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Construction and Use of a Transposon for Identification of Essential Genes in Mycobacteria
… mutagenesis of mycobacteria. In a preliminary genetic screen using the model organism Mycobacterium smegmatis, 13 mutants with ATc-dependent growth were identified. Identification of the insertion sites by cloning and sequencing indicated that there were nine genetic loci containing transposon …
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Inferring mechanisms of V(D)J recombination using statistical inference on high-throughput immune repertoire data
… of sequence microhomology. First, I identify genetic loci associated with modifying V(D)J recombination probabilities using genome-wide association inference and reveal individual differences in receptor generation. Next, I develop a probabilistic model of nucleotide trimming to infer how …
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The Distribution of Genetic Variation Among Relictual Populations of Missouri Tallgrass Prairie Plants
The amount of genetic variability that is lost from a species when an ecosystem is fragmented will be proportional to the magnitude of genetic differentiation among its individual populations. To assess the genetic effect of habitat destruction on tallgrass prairie plant species, Wright's …
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Bull trout (Salvelinus confluentus) population structure and extent of hybridization with brook trout (S. fontinalis) across Alberta's Eastern Slopes
… persistence and survival. In my thesis, I used genetic loci known as Single Nucleotide Polymorphisms (SNPs) to investigate the genetic status of bull trout across Alberta. My two main objectives were to: 1) assess the extent of hybridization between bull trout and brook trout (S. fontinalis), …
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