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 591 for “"repeats"”.
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Biological Consequences of Polyglutamine Repeats in Drosophila Muscle
Polyglutamine (polyQ) disease occurs by CAG repeat expansion, encoding a glutamine tract in the affected protein. Accumulation of these mutant polyQ proteins leads to formation of insoluble protein aggregates that impair many vital cellular processes. This manifests in neurodegenerative symptoms …
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Aspects of human relationship identification using short tandem repeats
Human short tandem repeat (STR) loci identification can be for linking material from a crime scene to an individual or linking two individuals. Paternity testing is one form of linkage where typically samples are tested between the mother, child and putative father (trio) and a probability (CPI) of …
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Understanding tetratricopeptide repeats of <i>O</i>-GlcNAc transferase
The modification of serine and threonine residues of intracellular proteins with O-linked N-acetyl-β-D-glucosamine (O-GlcNAc) was serendipitously discovered in 1984. During the following decades it became clear that intracellular O-GlcNAc levels respond to various stimuli, suggesting that this …
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Analysis of The RING Domain And BRCT Repeats of BRCA1
… BRCA1's functions: the RING domain and the BRCT repeats. BRCA1's RING domain has E3 ubiquitin ligase activity, which is greatly enhanced when it forms a heterodimer with Bard1. This region is of particular interest because it displays the only known enzymatic activity of BRCA1. The BRCT repeats …
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Identifying individual ribosomal RNA gene repeats to investigate their behaviour
… RNA genes (rDNA) are present as multiple tandem repeats that are transcribed by a dedicated polymerase, RNA polymerase I. While hundreds of rDNA repeats are present, only a subset is transcribed in a cell at any given time, with the transcriptional status determined epigenetically. Here, I sought …
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Computational discovery and modelling of tandem domain repeats in proteins
… this study, I aim to discover new tandem domain repeats, characterise their sequence and structural properties and understand their roles in the function of proteins. I start by using computational sequence analysis tools across large datasets of proteins and bacterial genomes to survey the …
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Genes with internal repeats require the THO complex for transcription
… other yeast genes that have long internal tandem repeats. FLO I transcription elongation in Tho- mutants is hindered in the region of the tandem repeats, resulting in a loss of function. Moreover, the repeats become genetically unstable in Tho- mutants. A FLO I gene without the tandem repeats is …
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DIRECT REPEATS AND DELETIONS IN MITOCHONDRIAL DNA: CASUAL AND EVOLUTIONARY ASPECTS
In this thesis, I employed a computational approach using genome analysis and statistical and thermodynamics-based modeling to understand the role of sequence motifs and DNA misalignments in mitochondrial DNA (mtDNA) deletion mutagenesis. Meta-analysis of age-related deletion breakpoints indicated …
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Uncovering the variability, regulatory roles and mutation rates of short tandem repeats
… this rapid growth in understanding, short tandem repeats (STRs), genomic elements consisting of a repeating pattern of 2-6 bases, have remained poorly understood. Mutating orders of magnitude more rapidly than most of the human genome, STRs have been identified as the causal variants in diseases …
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Characterizing variation at short tandem repeats and their role in human genome regulation
… of variation. Here we focus on Short Tandem Repeats (STRs) as a model for complex variation. STRs are comprised of repeating motifs of 1-6bp that span over 1% of the human genome. The level of STR variation and its effect on phenotypes remains mostly uncharted, mainly due to the difficulty in …
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DNA DAMAGE AT TANDEM REPEATS GENERATES I-LOOPS THAT CAN BE EXCISED AS ECCDNA
… of DNA damage also at centromeric α-satellite repeats. As in the case of telomeres, i-loop formation at centromeres was associated with an accumulation of eccDNA. I-loop and eccDNA accumulation was confirmed also by electron microscopy analysis of centromere-enriched samples, indicating that …
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Mammalian-wide interspersed repeats (MIRs) and their role in mammalian gene function and evolution
… endogenous genes. Mammalian-wide interspersed repeats (MIRs) are short interspersed nuclear elements (SINEs), belonging to the non-autonomous class of retroelements and are found in all mammals. The recruitment of an MIR element by a gene may provide insight into mammalian evolution and gene …
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Control of the EBV growth transformation programme: the importance of the Bamhi W repeats
… EBVs carrying different numbers of BamHI W repeats and carried out B cell infection experiments. We concluded that EBV requires at least 2 copies of BamHI W repeats to be able to activate transcription and transformation in resting B cells in vitro. At least 5 copies of BamHI W were required …
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Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa
… was undertaken to investigate the polymorphic repeats; (CAG)n and (CCG)n within the HD gene, in a sub-group of HD patients and family members from a population where HD is infrequently observed. Primer pairs were used to amplify each trinucleotide repeat separately. Molecular investigations of …
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Mitotic homologous recombination at engineered repeats in S. cerevisiae and in novel transgenic mice
Although homologous recombination provides an efficient means for repairing and tolerating DNA damage, mitotic recombination 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 …
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Generation of Transgenic Mice to Evaluate Promoter Activity and Specificity of Two Human Endogenous Retrovirus Long Terminal Repeats = Untersuchungen zur Promotor-Aktivität und -Spezifität von zwei Long Terminal Repeats humaner endogener Retroviren in transgenen Mäusen
… of two Human Endogenous Retrovirus Long Terminal Repeats Human Endogenous Retrovirus Long Terminal Repeats (HERV-LTRs) comprise 1.8% of the human genome (52.7 Mb). These sequences contain all the signal structures necessary for the regulation of gene transcription, such as promoters, enhancers and …
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Genes and protein structural elements are delineated by DNA mirror repeats and characterized by net dinucleotide composition
Dinucleotide composition and sequence repeats are attributes of DNA that have been used for more than 40 years to evaluate sequence identity and function, phylogeny and evolution. This thesis provides new perspectives of dinucleotide composition and DNA organization by the development and …
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