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Full-Text Articles in Genetics and Genomics

This Is Just A Phase : The Impact Of Population Structure On Haplotype Phasing And Linkage Disequilibrium Measures At Functional Genetic Sites., Roxanne Kaaren Leiter Dec 2017

This Is Just A Phase : The Impact Of Population Structure On Haplotype Phasing And Linkage Disequilibrium Measures At Functional Genetic Sites., Roxanne Kaaren Leiter

Electronic Theses and Dissertations

The block-like structure of the human genome has been the subject of many scientific papers and is of practical significance in large-scale genome-wide association studies. How stringent haplotype block boundaries are within and between populations has been the subject of ongoing debate within human population genetics. This thesis will contribute to the description of universal and population-specific haplotype blocks at functional sites, namely across the IL-10 gene family (including IL-10, IL-19, IL-20 and IL-24), which is involved in a number of immune system processes, and MAPKAP-K2, an adjacent and functionally significant kinase gene. Beyond the description of blocks across these …


The Dlk1-Meg3 Locus In Malignant Cells Of Proposed Primordial Germ Cell Origins., Zachariah Payne Sellers Aug 2017

The Dlk1-Meg3 Locus In Malignant Cells Of Proposed Primordial Germ Cell Origins., Zachariah Payne Sellers

Electronic Theses and Dissertations

Primordial germ cells (PGCs) are hypothesized to deposit hematopoietic stem cells (HSCs) along their migration route through the embryo during the early stages of embryogenesis. PGCs also undergo global chromatin remodeling, including the erasure and reestablishment of genomic imprints, during this migration. While PGCs do not spontaneously form teratomas, their malignant development into germ cell tumors (GCTs) in vivo is often accompanied by the retention of hypomethylation at the IGF2-H19 imprinting control differentially methylated region (DMR). Previous studies in bimaternal embryos determined that proper genomic imprinting at two paternally imprinted loci was necessary for their growth and development: Igf2-H19 and …


Function Of The Enterobactin Operon Of A. Actinomycetemcomitans In The Presence Of Catecholmines And Iron., Taylor Johnson May 2017

Function Of The Enterobactin Operon Of A. Actinomycetemcomitans In The Presence Of Catecholmines And Iron., Taylor Johnson

Electronic Theses and Dissertations

Background: Aggregatibacter actinomycetemcomitans (Aa) possesses a two-component system, QseBC, which is key in biofilm formation/virulence and is activated in the presence of iron-catecholamine complexes. Aa does not synthesize enterobactin, a catechol-based siderophore, yet possesses the machinery for recognition and uptake. We hypothesize that Aa is able to acquire iron by catecholamine mediation through the enterobactin receptor/transporter. Methods: By insertional mutation, we attempted to delete the enterobactin permease from the genome using suicide vector pJT1. A growth curve of truncated mutant ΔfepA was also conducted to observe growth in the presence of iron and catecholamines. Statistical significance was determined by ANOVA …