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 56 for “"loss-of-heterozygosity"”.
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Consequences of mitotic loss of heterozygosity on genomic imprinting in mouse embryonic stem cells
… with imprinted genes, whose expression is parent-of-origin specific. The dosage of imprinted gene expression is disrupted in cells with uniparental disomy (UPD), which is an unequal parental contribution to the genome. I have derived mouse embryonic stem (ES) cell sub-lines with maternal UPD …
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Functional analysis of ANKRD11 and FBXO31: two candidate tumour suppressor genes from the 16q24.3 breast cancer loss of heterozygosity region.
Loss of heterozygosity (LOH) on the long arm of chromosome 16 is frequently observed during the onset of breast cancer. Our laboratory has recently identified both ANKRD11 and FBXO31 as candidate tumour suppressor genes in the chromosome band 16q24.3, which is the smallest region of overlap for …
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Conservation genetics of a spotted salamander (Ambystoma maculatum (Shaw 1802)) local population in southeast Tennessee
… amphibian decline with numerous causes. Because of this, it is important to understand how genetic variation in local amphibian populations is affected by disturbance. The goal of this study was to assess the genetic impacts of past chemical and ammunition storage and present industrialization on …
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Human common fragile site FRA16D flexibility peak is not a strong mitotic: Recombination hotspot in <i>saccharomyces cerevisiae</i>
<p>Common fragile sites (CFS) are areas of the genome that tend to break when DNA replication is stressed or partially inhibited. Breaks at CFS can lead to gene deletions and amplifications that can result in the genesis of cancer cells. There is controversy about the mechanism of CFS instability. …
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Functionality of mutant p53 in early tumorigenesis
… is commonly mutated in human cancers. Most of these mutations are missense mutations which, in the presence of WT-p53 (p53mut/+), can cause loss of function (LOF), dominant-negative (DN) and/or gain of function (GOF) activities. However, mutant p53 is more commonly studied following …
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The Prince or the Depauperate? Population Genetics of the Rare, Closed-flower Erica occulta
… and gene flow is important for the conservation of rare species. Despite this, they remain relatively unknown for Fynbos species. Erica occulta is a rare, dull, closed-flower Erica that is restricted to the few limestone cliffs near Groot Hagelkraal on the Southern Agulhas Plain, South Africa. …
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Genomic analysis of mouse tumorigenesis
The availability of the human and mouse genome sequences has spurred a growing interest in analyzing mouse models of human cancer using genomic techniques. Comparative genomic studies on mouse and human tumors can be valuable in two major ways: in validating mouse models and in identifying genes …
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Chromosomal instability and tumorigenesis : genetic analysis of the murine spindle checkpoint gene Mps1
The ubiquity of aneuploidy in human cancers, particularly solid tumors, suggests a fundamental link between errors in chromosome segregation and tumorigenesis. The spindle checkpoint ensures accurate chromosome segregation by delaying anaphase onset until all kinetochores achieve bipolar attachment …
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Mitotic homologous recombination at engineered repeats in S. cerevisiae and in novel transgenic mice
… between misaligned sequences can lead to loss of genetic information (e.g. deletions, translocations and loss of heterozygosity). Given that such genetic changes may promote tumorigenesis, it is critical to identify those genetic and environmental factors that render cells susceptible to …
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An investigation of basic science and clinical research methodologies to benefit clinical practice
The aim of this PhD thesis was to produce research that could inform and benefit clinical practice by exploring the application of basic science and clinical research methodologies to disorders in obstetrics and gynaecology. Chapter 1’s investigation of endometriosis is the first to 1) report …
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Linkage mapping and genetic analysis of Trypanosoma brucei
Trypanosoma brucei is a protozoan parasite of major public health and economic importance in sub-Saharan Africa, where it is the causative agent of sleeping sickness in man and Nagana in cattle. The complete genome sequence of T.brucei is now available and the diploid genetic system has recently …
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Genetic Alterations in Advanced Head and Neck Cancer
Genetic alterations of the PTEN gene located on chromosome 10q23 have been found in different neoplasms. In squamous cell carcinoma of the head and neck (SCCHN) loss of heterozygosity (LOH) at 10q has been described to be associated with poor prognosis. Moreover, genetic instability of …
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Analysis of prognostic and drug resistance markers in lung cancer
… highest cancer mortality in the UK. Beyond stage of disease and the patient’s Performance Status there are no other robust clinical or molecular markers of prognosis available today. One major reason for the high mortality rate of this disease is the significant proportion of patients who present …
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Ergodicity of Adaptive MCMC and its Applications
… algorithms (AMCMC) are most important methods of approximately sampling from complicated probability distributions and are widely used in statistics, computer science, chemistry, physics, etc. The core problem to use these algorithms is to build up asymptotic theories for them. In this thesis, …
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Repetitive Sequences Drive Rapid Adaptation in Candida albicans
… during speciation, the somatic evolution of cancer, and during the rapid adaptation of fungi to novel environments. In the human fungal pathogen Candida albicans, genome plasticity resulting in copy number variations (CNVs) and loss of heterozygosity (LOH) confer increased virulence and …
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The Role of Polyploidy in the Liver and Its Implications for Cancer Therapy
The description of liver polyploidy dates back to the 1940s, but its functional roles are still largely unknown. Numerous observations and studies have suggested that liver polyploidy may participate in multiple biological processes, including regeneration, stress response, and cancer. However, …
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Consequences of telomerase inhibition and telomere dysfunction in BRCA1 mutant cancer cells
Telomere maintenance is a critical component of genomic stability. An increasing body of evidence suggests BRCA1, a tumor suppressor gene with a variety of functions including DNA repair and cell cycle regulation, plays a role in telomere maintenance. Mutations in BRCA1 account for approximately …
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Transcriptional and Chromatin Disorientation Associated with BRCA2 Inactivation
… that BRCA2 inactivation leads to dysregulation of genes involved in the cell cycle, DNA repair, and replication. Strikingly, oncogene MYC targets are upregulated upon biallelic, but not monoallelic BRCA2 loss, provoking the hypothesis that MYC signalling activation is accompanied by the loss of …
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How Clonal Ants Clone: The Reproductive Biology of the Clonal Raider Ant, Ooceraca Biroi
… frequencies change is affected by the mechanics of reproduction, including the number of copies of each chromosome an organism has (ploidy), whether the organism reproduces sexually or asexually, and how gametes are produced. Disentangling the rules of reproduction is therefore vital to …
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