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Definition Of The Landscape Of Chromatin Structure At The Frataxin Gene In Friedreich’S Ataxia, Eunah Kim
Definition Of The Landscape Of Chromatin Structure At The Frataxin Gene In Friedreich’S Ataxia, Eunah Kim
Dissertations & Theses (Open Access)
Friedreich’s ataxia (FRDA) is caused by the transcriptional silencing of the frataxin (FXN) gene. FRDA patients have expansion of GAA repeats in intron 1 of the FXN gene in both alleles. A number of studies demonstrated that specific histone deacetylase inhibitors (HDACi) affect either histone modifications at the FXN gene or FXN expression in FRDA cells, indicating that the hyperexpanded GAA repeat may facilitate heterochromatin formation. However, the correlation between chromatin structure and transcription at the FXN gene is currently limited due to a lack of more detailed analysis. Therefore, I analyzed the effects of the hyperexpanded GAA …
Mechanism Of Transcriptional Suppression Of A Phytochrome A Epiallele In Arabidopsis Thaliana, Gulab D. Rangani
Mechanism Of Transcriptional Suppression Of A Phytochrome A Epiallele In Arabidopsis Thaliana, Gulab D. Rangani
Graduate Theses and Dissertations
Cytosine methylation in DNA is an integral part of epigenetically controlled regulatory networks in eukaryotes. Both plants and vertebrates display DNA methylation in the gene coding region; however, its role in gene expression is not well understood. Gene promoter, on the other hand, remains largely unmethylated. Acquisition of methylation in promoter results in transcriptional suppression of the gene. The goal of this research is to study the effect of coding region methylation in gene expression using a unique gene model, phyA'. phyA' is a transcriptionally suppressed epiallele of the Arabidopsis thaliana Phytochrome A gene, which contains methylation in CG sites …
The Effects Of Superovulation And Embryo Culture On Genomic Imprinting In A Mouse Model System, Brenna A. M. Velker
The Effects Of Superovulation And Embryo Culture On Genomic Imprinting In A Mouse Model System, Brenna A. M. Velker
Electronic Thesis and Dissertation Repository
Genomic imprinting is a specialized transcriptional mechanism resulting in the unequal expression of alleles based on their parent-of-origin. Imprinted genes are critical for embryonic and fetal development and their dysregulation is linked to a group of human diseases called imprinting disorders, including Beckwith-Wiedemann Syndrome, Angelman Syndrome and Silver-Russell Syndrome. Two critical phases of genomic imprinting exist. The acquisition phase occurs in developing germ cells, asynchronously for different imprinted loci, while the maintenance phase takes place during preimplantation development, while the rest of the genome is undergoing demethylation. Increased frequencies of human imprinting disorders are observed in children following the use …
Expression Analysis Of The Imprinted Gene Transketolase-Like 1 In Mouse And Human, Amy F. Friss
Expression Analysis Of The Imprinted Gene Transketolase-Like 1 In Mouse And Human, Amy F. Friss
Master's Theses
Genomic imprinting is an epigenetic phenomenon resulting in differential gene expression based on parental origin. Recently, transketolase-like 1 (TKTL1) has been identified as an X-linked imprinted gene. TKTL1 functions in the nonoxidative branch of the pentose phosphate pathway (PPP), which maintains glutathione in a reduced state through the generation of NADPH. Previous studies on transaldolase, the other critical enzyme in the nonoxidative branch of the PPP, suggest that TKTL1 may affect the cell’s ability to reduce glutathione. This study provides evidence that TKTL1 overexpression inhibits glutathione reduction. Intriguingly, aberrant glutathione levels are associated with autism. Additionally, studies involving …
The Specific Role Of The Mll Cxxc Domain In Mll Fusion Protein Function, Laurie Ellen Risner
The Specific Role Of The Mll Cxxc Domain In Mll Fusion Protein Function, Laurie Ellen Risner
Dissertations
The MLL gene was first identified because it is involved in chromosome translocations which produce novel fusion proteins that cause leukemia. The CXXC domain of MLL is a cysteine rich DNA binding domain with specificity for binding unmethylated CpG-containing DNA. The CXXC domain is retained in oncogenic MLL fusions, and is absolutely required for the fusions to cause leukemia. This project explored the role of the CXXC domain by introducing structure-informed point mutations within the MLL CXXC domain that disrupt DNA binding, and by performing domain swap experiments in which different CXXC domains from other proteins, including DNMT1, CGBP and …
Novel Inhibitors Of Lysine Specific Demethylase 1 As Epigenetic Modulators, Michael Crowley
Novel Inhibitors Of Lysine Specific Demethylase 1 As Epigenetic Modulators, Michael Crowley
Wayne State University Theses
The recently discovered enzyme lysine-specific demethylase 1 (LSD1) plays an important role in the epigenetic control of gene expression, and aberrant gene silencing secondary to LSD1 over expression is thought to contribute to the development of cancer. We recently reported a series of (bis)guanidines and (bis)biguanides that are potent inhibitors of LSD1, and induce the re-expression of aberrantly silenced tumor suppressor genes in tumor cells in vitro. We now report a new series of isosteres that are also potent inhibitors of LSD1. These compounds induce increases in methylation at the histone 3 lysine 4 (H3K4) chromatin mark, a specific target …
Novel Role Of Mecp2 In Developing Oligodendrocytes And Myelination, Daniel Moore
Novel Role Of Mecp2 In Developing Oligodendrocytes And Myelination, Daniel Moore
Theses and Dissertations
Methyl-CpG-binding protein 2 (MeCP2 is) is an epigenetic regulator that binds to methylated DNA. Initially identified as transcriptional repressor, MeCP2 also binds to different proteins functioning as gene activator. Importantly, MecCP2 gene mutations and changes in MeCP2 levels are associated to several forms of mental retardation and autism-related disorders; including Rett, a neurodevelopmental disorder affecting primarily girls. While brain MeCP2 was considered to be exclusively neuronal, this regulator is also present in glia. We found that oligodendrocytes, the myelinating cells of the central nervous system (CNS), express particularly high MeCP2 levels at a developmental stage that precedes their final maturation. …