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Inter-individual variations in genome-wide DNA methylation patterns in the human germline

Posted on:2007-03-17Degree:M.ScType:Thesis
University:University of Toronto (Canada)Candidate:Sobolev, MarthaFull Text:PDF
GTID:2444390005968241Subject:Health Sciences
Abstract/Summary:
Heritable epigenetic modification is an additional layer of information that is stored in the human genome, and contributes to inter-individual phenotypic heterogeneity. Epigenetic misregulation of critical processes such as imprinting, X-chromosome inactivation, and the transcriptional control of genes contributes fundamentally to the etiology of many human diseases. In this study I demonstrate the existence of differences in DNA methylation profiles in germ-cells between healthy males. The experimental strategy included the scanning of CpG islands with microarrays to identify regions of high and low inter-individual variability in DNA methylation patterns in the genome, which was then confirmed with detailed SNaPshot analysis. In addition, a number of genes exhibited age-related methylation changes. Further research may focus on the elucidation of the extent of epigenetic inheritance in humans, a process that may explain why some diseases appear to be sporadic, show weak genetic linkage, or are late-onset.
Keywords/Search Tags:DNA methylation, Human, Inter-individual
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