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Date of Award
Bachelor of Science (BS)
Department of Biology
DNA methylation is an epigenetic modifier that modulates gene expression in plant and vertebrate genomes. The aim of this study was to characterize the role of DNA methylation in the human retina, particularly within rod and cone photoreceptor retinal neurons. Previous studies investigating DNA methylation in murine retinal cells and retina-derived human retinoblastoma immortalized cell culture lines demonstrate an inverse relationship between DNA methylation and transcriptional activity. Here, we used gene-specific bisulfite pyrosequencing analysis to measure DNA methylation in the genomes of human ocular cells in an effort to characterize the role of this important epigenetic modifier. These results can be summarized as follows: 1) human ocular tissues demonstrate tissue-specific patterns of DNA methylation on retina specific genes. These patterns demonstrate an inverse relationship with mRNA gene expression. 2) Within the human retina, cell type-specific patterns of DNA methylation are also observed between rod and cone photoreceptor neurons. These cell-specific patterns of DNA methylation demonstrate a more complex relationship with mRNA gene expression. 3) Putative Cone-rod homeobox, CRX, binding sites in rod and cone photoreceptors demonstrate differential methylation. Collectively these results demonstrate a previously undescribed role for DNA methylation in regulating gene expression in adult human retinal neurons and suggest insights into the specific mechanism of regulation.
Dunham, Nicholas R., "Epigenetic characterization of human retina cells" (2016). Senior Honors Projects, 2010-current. 200.