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.
Results
Showing 1 to 20 of 27 for “"Deleterious Mutations"”.
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Steady states in rapidly evolving populations
Populations are subject to mutations conferring beneficial effects, as well as mutations conferring deleterious effects. Even if deleterious mutations occur much more frequently than beneficial mutations, the contribution of deleterious mutations to the overall rate of change of the population-wide …
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The evolution of self-compatibility and its genetic consequences in Leavenworthia alabamica (Brassicaceae)
… in nature, and if so, what happens to these deleterious alleles following the transition to self-compatibility?; and 3) does a history of self-fertilization cause populations to accumulate deleterious mutations and potentially experience extinction? In L. alabamica, self-incompatibility …
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The Search for Regulatory Mutations in Gitelman Syndrome
… to gradually uncover a wide spectrum of rare, deleterious mutations with large effect sizes, which are responsible for Mendelian diseases. Roughly 70% of human genes are single copy and have orthologs across the vertebrate lineage, suggesting that they are under purifying selection. This …
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LEVERAGING EVOLUTION TO UNDERSTAND GENETIC LOAD IN CASSAVA (MANIHOT ESCULENTA)
… load due to the accumulation of underlying deleterious mutations has been hypothesized as an underlying cause for these difficulties. In recent years genomic selection has been adopted as a strategy to accelerate genetic gain and quickly purge genetic load. Obtaining accurate and consistent …
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Intra-tumor heterogeneity and evolution
… selection would prevent the fixation of deleterious mutations in tumors. Through computational analysis of tumor genomes, we determined that purifying selection acts to remove deleterious mutations. Genes under purifying selection must be important to tumors in vivo, as only mutations in …
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The use of maize streak virus (MSV) replication-associated protein mutants in the development of MSV-resistant plants
… constructs had previously been made containing deleterious mutations in several conserved amino acid motifs. In this study, these mutants and the wild type Rep gene were truncated to remove key motifs involved in viral replication. A quantitative PCR assay was developed to determine the effects …
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The use of maize streak virus (MSV) replication-associated protein mutants in the development of MSV-resistant plants
… constructs had previously been made containing deleterious mutations in several conserved amino acid motifs. In this study, these mutants and the wild type Rep gene were truncated to remove key motifs involved in viral replication. A quantitative PCR assay was developed to determine the effects …
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The cost of longevity: loss of sexual function in natural clones of Populus tremuloides
… of ramet birth, development and death, somatic mutations have the opportunity to occur. Eventually, the clone becomes a mosaic of mutant and non-mutant cell lineages. We found that neutral somatic mutations accumulated across 14 microsatellite loci at a rate of between 10^-6 and 10^-5 per locus …
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Bioluminescence-Based High Precision Bacterial Growth Rate Measurements and Their Potential Application in Quantifying Deleterious Effects of High Mutation Rates
… probability of generation of beneficial mutations. Yet, given that a majority of non-neutral mutations are deleterious, there is a long-term cost associated with high mutation rates. This thesis explores the idea that one form of the long-term cost involves the fixation of deleterious …
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Essential Genes And Their Role In Autism Spectrum Disorder
… strong purifying selection. This intolerance to deleterious mutations, commonly observed haploinsufficiency and the importance of EGs in pre- and postnatal development suggests a possible cumulative effect of deleterious variants in EGs on complex neurodevelopmental disorders. Autism spectrum …
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Molecular evolution following allopolyploidization in Gossypium
… in the analysis. In chapter 4, I show that deleterious mutations accumulate faster in allopolyploid than in diploid cotton species due to the masking effect of duplicated genes with shared functions, and discuss the possible implications of this finding for several other aspects of polyploid …
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Genome diversity and evolution in canine transmissible venereal tumour
… has operated to prevent accumulation of deleterious mutations in captured mtDNA, and that recombination has caused occasional mtDNA re-assortment. A histology-based screen of CTVT clades did not show any significant phenotypic differences between groups. In order to determine how the five …
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The Loss Of Genomic Uracil Homeostasis And Aid-Dependent Accumulation Of Dna Damage In B Cell Lymphomas
… of antibodies. AID, however, can also lead to deleterious mutations and translocations promoting lymphomagenesis. The introduction of uracils throughout the genome of activated B cells and the ability of UNG2 glycosylase to excise these uracils is examined here. This interplay was also studied …
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Using Museomics to Investigate Extinction and Decline in British Butterflies
… an accumulation of putatively mildly and weakly deleterious variants. Both results are consistent with long-term gradual declines in population. In contrast, British P. icarus shows no significant increase in inbreeding or genetic load compared to European specimens. Current British populations …
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Origin, evolution, and global spread of a transmissible cancer clone
… on tumour mtDNA to prevent the accumulation of deleterious mutations and there is evidence for multiple, complex mtDNA recombinations in CTVT. This is the first observed instance of mtDNA recombination in cancer. Enrichment of this data set with almost 200 additional mtDNAs uncovered further …
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Preliminary genealogical evidence for the Plakophilin-2 gene, PKP2 c.1162C>T founder mutation in cases with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
… death. Often the pathogenesis is linked to deleterious mutations in the desmosomal gene plakophilin-2 (PKP2). We extended investigations of the pathogenic PKP2 c.1162C>T founder mutation which had previously been reported to occur within four 'unrelated' probands (6.2%) who selfidentified as …
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Intrinsic Control Strategies for Herpesvirus-based Vaccine Vectors
… would introduce an unsustainable level of mutations during replication of the virus, and thereby eventually result in 'genomic catastrophe' and demise of the virus. The aim of this second part of the thesis was to characterize a HCMV that has been modified through deletion of an aspartic …
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Quantifying the pro- and antimutagenic roles of DNA damage and repair
… repair machinery can lead to the accumulation of deleterious mutations which may cause a range of diseases including cancer. Different mutational processes often leave behind characteristic patterns of mutations, so-called mutational signatures. Mutational signature analysis of tumours has gained …
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Replaying Life's Tape With Intraclonal Germinal Center Evolution
… by artificially engineering the combination of mutations that has previously occurred in GCs. In the second part of this thesis, I take a reductionist approach to generate reproducible GC responses by starting GCs with the same chIgY-specific B cells so that many GCs with the same starting …
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Paralogous genes in Arabidopsis thaliana contribute to diversified phenylpropanoid metabolism
… dispensable under normal growth conditions. Thus deleterious mutations occurring in paralogous genes that otherwise would be selected against in primary metabolism may be more tolerated in specialized metabolism. Using the Arabidopsis phenylpropanoid pathway as a model, in this thesis I describe …
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