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 33 for “"gene conversion"”.
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Applying ancestry tracts to human genetics: disentangling admixture history and characterizing gene conversion
… of inference problems in population and medical genetics. Here I propose new methods for studying admixture demography and inferring non-crossover gene-conversion from admixture tracts. First, I present PAPI (Parental Admixture Proportion Inference), a Bayesian tool for inferring admixture …
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Palindromes on the human X chromosome : testis-biased transcription, gene conversion and evolution
… span 30% of the chromosome and are subject to gene conversion. We conducted studies to determine whether similar palindromes exist on the human X chromosome and, if they exist, to what degree they share the features of the Y chromosome palindromes. We performed an electronic search for …
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Adaptive evolution, sex-linkage, and gene conversion in the voltage-gated sodium channels of toxic newts and their snake predators
Understanding how genetic changes ultimately affect morphology and physiology is essential for understanding and predicting how organisms will adapt to environmental changes. Although most traits are complex and involve the interplay of many different genetic loci, some exceptions exist. These …
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Diverse outcomes of homologous recombination in the human Y chromosome
… is the common precursor to crossing over and gene conversion. First, I show that massive MSY-specific palindromes, which maintain arm-to-arm sequence identity via gene conversion, are also the targets of crossing over. Crossover events in palindromes can lead to isochromosome formation and …
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How Linkage Disequilibrium and Recombination Shape Genetic Variation Within and Between Species
<p>Meiotic recombination creates genetic diversity by shuffling combinations of alleles across loci, yet alleles at neighboring loci often remain non-randomly associated. This non-random association is known as linkage-disequilibrium (LD), and it has evolutionarily important effects both within and …
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Evolution of large palindromes on the primate X chromosome
… than 99%. Palindrome arms harbor protein-coding genes with testis-biased expression, suggesting roles in male fertility. However, palindromes are under-represented in non-human reference genomes due to technical challenges associated with genomic repeats, limiting our understanding of palindrome …
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The Role of the Mismatch DNA Repair Protein MutL in Antigenic Variation of the Lyme Disease Spirochete
… canonical DNA mismatch repair protein, for vlsE gene conversion raising the question whether MutL might play a role in recombination or in antigenic variation systems in other bacteria. The aim of this study was to investigate the recombination activity of MutL using B. burgdorferi …
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Telomere Structure and Shortening in Telomerase-Deficient Trypanosoma brucei: Implications for Anitgenic Variation
… of variant surface antigens. Intriguingly, the genes encoding these antigens are frequently found adjacent to the telomeres. Telomeres are nucleoprotein complexes consisting of tandem DNA repeats and proteins that bind to them. Their function is to protect chromosome ends from the DNA repair …
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Studies at the hemochromatosis (HFE) locus : gene conversions, haplotypes, and association analysis
… potential methodology for the identification of genes that contribute to complex traits. There is thus great interest in understanding the biological forces that shape haplotypes. We have studied a well-characterized genetic locus surrounding the gene responsible for hereditary hemochromatosis …
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Evolutionary Dynamics of the Alpha-actinin Gene Family
The alpha-actinin gene family is a member of the spectrin superfamily of proteins. Other members of this superfamily include the a- and ~-spectrins, ~heavy spectrin and dystrophin. Each member of this superfamily has a unique actin cross-linking distance consequent to the specific number of …
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Antibody phage-displayed libraries derived from chicken immunoglobulin genes : a source of highly specific diagnostic antibodies
… chicken immunoglobulin system was exploited to generate recombinant antibodies against multiple target antigens. Following simultaneous immunisation of two chickens with a mixture of Plasmodium falciparum recombinant lactate dehydrogenase (LDH), histidine rich protein II (HRPII) and aldolase …
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The spatial scale of immune gene variation within and among bottlenecked populations
The general aim of this thesis is to explore different spatial scales at which pathogen-mediated selection drives the evolution of immune genes across and within populations of Berthelot’s pipit (Anthus berthelotii), a historically bottlenecked passerine endemic to the oceanic islands of the …
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Computational Discovery and Analysis of rDNA Sequence Heterogeneity in Yeast
Ribosomal RNA genes, known as ribosomal DNA or rDNA, are commonly found in tandem arrays of hundreds of repeating units. The sequences of each unit in an array were thought to be near-identical but it is now known that frequent mutations may occur, causing heterogeneity amongst units. Opposing …
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Adaptation and differentiation across island populations of Berthelot’s pipit (Anthus berthelotii)
… neutral and adaptive processes shape patterns of genetic diversity across populations of Berthelot’s pipit (Anthus berthelotii), a passerine bird endemic to the Canary Islands, Selvagens and Madeira archipelagos. To achieve this, I examined variation in pathogen infection, neutral microsatellites …
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The human myeloproliferative disorders: molecular pathogenesis and clonal heterogeneity
… presence of clonal diversity in the MPD and the genetic events associated with progressive disease. Mutations in MPL were identified in 4% of ET and 7% of IMF but not in PV. Three different acquired MPL mutations were identified, one of which had been reported as an inherited allele. Although MPL …
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Evolutionary genetics of CYP2J19 in red carotenoid pigmentation
… Despite this, little is known about the genetic mechanisms underlying carotenoid based pigmentation. Recently, the gene CYP2J19 was strongly implicated in red ketocarotenoid pigmentation for coloration and colour vision within two lineages of song birds (the zebra finch and the red factor …
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The Role of Polyploidy in Phenotypic and Genomic Evolution in the Shy Monkeyflower, <i>Mimulus sookensis<i>
… act through a single fundamental medium: genetic variation. Polyploidy, or whole genome duplication, is a major mechanism for evolutionary change because it is both widespread across taxa and results in a proliferation of genetic material that evolution can act upon. The key questions …
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Alu retrotransposition-mediated genomic variation within the primate order
… in studies of forensic identity, population genetics, and evolutionary biology. In a computational survey of the human sex chromosomes, 344 recently integrated Alu elements were detected and subjected to empirical testing by polymerase chain reaction to determine presence/absence …
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Following the LINEs (Long INterspersed Elements): human specific L1 elements and their orthologous loci in non-human primates
… reaction (PCR) assays to determine their phylogenetic origin and to determine their contribution to human genomic diversity. PCR analysis indicated that 45% of the L1 Ta elements screened are polymorphic for insertion presence or absence. Sequence analysis of the L1 Ta elements produced …
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