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 18 of 18 for “"synonymous mutations"”.
-
The Distribution of Fitness Effects of Synonymous Mutations in a Gene under Selection
… beneficial single-nucleotide changes, although synonymous mutations, which do not alter the amino acid sequence, have been conventionally seen as ‘silent’ changes. However, recent studies have reported the existence of spontaneous adaptive synonymous substitutions, raising the possibility that …
-
Codon Usage Biases Differ Between Tissues and Can Confer Tissue-Specific Gene Expression in Drosophila
… aspect of the genetic code. For many years synonymous mutations to a coding sequence were considered to be functionally “silent.” We now appreciate that is not the case and that synonymous codon choice can have drastic implications for gene expression and protein production. A major debate …
-
Massively parallel analysis of the functional effects of mutations
… and analysis to study the functional effects of mutations on both coding and non-coding sequences, and I describe many methods for creating large libraries of variants for using these assays. I then describe two studies applying massively parallel assays to address questions in evolution and …
-
T Cell Immunosurveillance in Pancreatic Ductal Adenocarcinoma
… immunosuppressive microenvironment and few non-synonymous mutations, we report that the natural history of such cancers is T cell-independent. Furthermore, tumor escape from T cell surveillance is not required for cancer progression, as tumor cells arising in T cell-depleted genetic mice grow …
-
Identification of germline variants that predispose to familial melanoma
… to analyse the dataset for novel driver mutations. A novel approach of combining association and linkage analysis was established for the variants in the coding region to identify genes with high burden of mutations where the variants segregated with the disease within the pedigrees. The …
-
The impact of variation in the Toll-like receptor 3 gene on epizootic hemorrhagic disease in Illinois white-tailed deer (Odocoileus virginianus)
… 85 haplotypes. Of these 77 SNPs, 45 were synonymous mutations and 32 were nonsynonymous mutations. Two non-synonymous SNPs within TLR3 were significantly associated with EHD in Illinois white-tailed deer. Phenylalanine (F) at codon position 59 was detected more frequently than leucine (L) …
-
Genetic diversity of sars-cov-2 in southern province of Zambia.
… Across the 40 genomes analysed, a total of 292 mutations were observed from the original Wuhan/Hu 1/2019/EPI 1SL 402125 reference genome, of which 281 (96.2 percent) were found in the coding region of the genome, including 182 missense mutations, 66 synonymous mutations, 23 deletions, 9 …
-
Genetic diversity of sars-cov-2 in southern province of Zambia.
… Across the 40 genomes analysed, a total of 292 mutations were observed from the original Wuhan/Hu 1/2019/EPI 1SL 402125 reference genome, of which 281 (96.2 percent) were found in the coding region of the genome, including 182 missense mutations, 66 synonymous mutations, 23 deletions, 9 …
-
New hypotheses about the origin of Pseudomonas syringae crop pathogens
… strong selection for loss of function and non-synonymous mutations in the fliC gene allowed to identify a region that triggers plant immunity. Finally, Pto T1 was compared to closely related bacteria isolated from snow pack and surface water in the French Alps. Recombination between alpine …
-
Alignment- and Alignment-refining Algorithms: Effects on Branch-length Estimation and Selection Pattern Analyses
… two types of purifying selection: against nonsynonymous mutations and against deletions using mammalian genomic protein-coding sequences. Intuitively, a codon that is intolerant of amino-acid altering substitutions is expected to be also intolerant of deletion. However, there has not been any …
-
Determining the Pathogenesis and Enzootic Transmission of Usutu Virus
… for the Netherlands 2016 strain. Eighteen non-synonymous mutations were identified throughout the genome of Netherlands 2016 strain compared to the other USUV isolates. To further understand USUV infection in wild birds, we developed a physiologically relevant model of infection using juvenile …
-
Understanding collagen-l folding and misfolding
… in collagen-I homeostasis, typically due to non-synonymous mutations in collagen-- encoding genes, cause a variety of severe incurable diseases, including Osteogenesis Imperfecta (01). 01 phenotypes include brittle, deformed bones, frequent fractures, and growth deficiency. In order to fill the …
-
Evaluation of Altered Kras Codon Bias and NOS Inhibition During Lung Tumorigenesis
… and more than 20% of human lung cancers harbor mutations in <italic>RAS, with 98% of those occurring in the <italic>KRAS isoform. While there have been many advances in the understanding of <italic>KRAS–driven lung tumorigenesis, it remains a therapeutic challenge. To further this …
-
Clonal dynamics of haematopoiesis across the human lifespan
… aged 0-81 years. HSC/MPPs accumulated 17 somatic mutations/year after birth with no increased rate of mutation accumulation in the elderly. HSC/MPP telomere length declined by 30 bp/yr. To interrogate changes in HSC population structure with age, I used the pattern of unique and shared mutations …
-
Phenotypic and genotypic characterisation of invasive Streptococcus pneumoniae expressing atypical capsular types
… become challenging to identify serotypes, due to mutations in the capsular gene cluster of atypical isolates. The encoded capsules have been shown to cross react with anti-sera from other pneumococcal serogroups. We, therefore, aimed to phenotypically and genotypically characterise a subset of …
-
Quantitative Analyses of Normal and Precancerous Somatic Evolution in Human Tissues
… cell of origin whose lineage accumulates somatic mutations in a step-wise manner over time. The evolutionary process towards cancer development is dynamic and the earliest mutation may arise decades before the onset for some cancers. This calls for a quantitative approach for probing early cancer …
-
A-to-I RNA Editing in Human Cells
… dysregulation of ADAR1 editing due to inherited mutations leads to disorders such as Aicardi-Goutieres syndrome, an inflammatory disease that manifests in the brain and skin, and dyschromatosis symmetrica hereditaria, a skin pigmentation disorder. ADAR1 is the primary A-to-I editor of RNA in …
-
Non-Coding RNA Features Critical to the Replication of HIV-1
… for viral replication, we conducted a global synonymous mutagenesis experiment. Sixteen mutant proviruses containing clusters of ~50 to ~200 synonymous mutations covering nearly the entire HIV-1 protein coding sequence were designed and synthesized. Analyses of these mutant viruses resulted in …