Global ETD Search
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Showing 1 to 20 of 65 for “"tandem repeats"”.
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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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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 …
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Characterizing variation at short tandem repeats and their role in human genome regulation
… types 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 …
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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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Genes with internal repeats require the THO complex for transcription
… I and 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 …
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Isolation and characterization of the messenger RNA and the gene coding for a proline-rich zein from corn endosperm
… daltons. There are eight essentially identical tandem repeats of the hexapeptide Pro-Pro-Pro-Val-His-Leu and two of the octapeptide Gln-Pro-His-Pro-Cys-Pro-Cys-Gln in the N-terminal one-half of the polypeptide. The codon specifying the third proline in the hexapeptide repeating unit is …
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Algorithmic advances towards a fully automated DNA genotyping system
Short Tandem Repeats (STR) genotyping is a leading tool in forensic DNA analysis. In STR genotyping, alleles in a sample are identified by measuring their lengths to form a genetic profile. Forming a genetic profile is time-consuming and labor-intensive. As the technology matures, increasing demand …
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Interactions Between Platinum-Intercalator Hybrid-Agents and The Human Telomeric G-Quadruplex
… immortal. The human telomeric DNA consists of tandem repeats of the guanine-rich sequence 5´-TTAGGG, which end in single-stranded 3´ overhangs that can fold into a non-duplex secondary DNA structure known as G-quadruplex. Because this form of DNA cannot be processed by telomerase, small …
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Using Matched Craniometric and Genetic Data to Assess the Population Structure of Texas-Mexico Border Migrants
… Using interlandmark distances (ILD) and short tandem repeats (STR) obtained from a sample of 32 Texas-Mexico migrants, this study investigates the within and between population variation of this unique data set. Genetic distances, Procrustes plots, and Mantel tests were conducted to assess the …
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The involvement of non-B DNA forming sequences in mediating missense mutations, micro-deletions and micro-insertions in human inherited disease
… hotspot motifs, mononucleotide runs and tandem repeats) and epigenetic marks in mediating germline missense and nonsense mutations, micro-deletions and micro-insertions causing human inherited disease and obtained from Human Gene Mutation Database (HGMD; http://www.hgmd.org) was studied …
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Chimerizmo analizė atskirose ląstelių populiacijose po alogeninės kraujodaros kamieninių ląstelių transplantacijos vaikams /
… beads. Following polymorphisms of short tandem repeats between donor and recipient were compared. The analysis reveled that following myeloablative conditioning in patients with ALL and ALD analysis of ICP revealed persistent autologous hemopoiesis despite stable donor chimerism in WBC. …
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A mathematical model of polymerase chain reaction induced stutter
… loci. The alleles correspond to the number of repeats of microsatellites that are usually two to six base pairs in length called short tandem repeats (STRs); the number of repeats of various STRs defines a person's DNA fingerprint. This process introduces artifacts in measurement. Of particular …
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HUMAN GENOME VARIATIONS AND EVOLUTION WITH A FOCUS ON THE ANALYSIS OF TRANSPOSABLE ELEMENTS
… relation between transposable elements (TEs) and tandem repeats (TRs) was made at a genome-wide scale for the first time. Upon sequence comparison, positional cross-checking and other relevant analyses, it was observed that over 20% of all TRs are derived from TEs. This result established the …
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BAC transgene arrays as a model system for studying large-scale chromatin structure
… engineered chromatin regions consisting of tandem repeats of BAC transgenes, which contain 150-200 kb of defined genomic regions, and used them as a model system to study the mechanisms and functional significance of large-scale chromatin organization. The BAC transgene arrays recapitulated …
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Comparative Genomics of Selected Species of Gram-Negative Bacteria
… polymorphisms) and 3 VNTRs (variable number tandem repeats). This surprising finding suggested that the European isolate FSC198 may be derived from the US laboratory strain Schu S4. Two virulence factors, IglA and IglB, from a pathogenicity island of strain FSC198 were further investigated …
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Biochemical analysis of proteins in the telomere maintenance pathway
… The terminal telomeric DNA consists of tandem repeats of a G-rich motif that is established and maintained by the action of the specialized reverse transcriptase called telomerase. In addition to the function of telomerase, the telomere environment requires an efficient means to assemble …
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Single-Molecule Characterization of RNA via Nanopore Sensing
… characterization. Then, I demonstrate how tandem implementation of nanostructure engineering and nanopore sensing can be used to size transcripts and assess their heterogeneity, applying this method to reveal premature transcription termination within the OriC sequence. Furthermore, I …
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Understanding Meiotic Recombination and Genomic Organisation of Plant Species
… contain megabase-long arrays of centromeric tandem repeats. While new long-read DNA sequencing technologies allow for more accurate assembly across the centromeres, methods for their annotation are also required. In this thesis, I present the development of Tandem Repeat Annotation and …
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Investigation into X-STR haplotype frequencies for forensic human identification in South Africa
The utilisation of X-chromosome short tandem repeats (X-STRs) for DNA profiling has been demonstrated to be particularly useful in resolving distant familial relations and deficiency paternity testing. The implementation of X-STRs within a medico-legal context requires baseline frequency data for …
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