Year: 2014
Type: dissertation
Abstract: There are over 40 genetic diseases caused by repeat locus-specific instability. The causes of repeat instability are poorly understood and a mechanism that explains their occurrence in full has yet to be identified. Numerous studies have shown epigenetic modifiers and cis-elements to play a role in repeat instability. Here, ENCODE datasets (histone modifications, DNA methylation, CTCF binding, DNase I hypersensitivity, and CpG sites) were analyzed at disease-causing repeat loci, control non-disease causing repeat loci, mono- and dinucleotide repeat loci, short interspersed nuclear element loci, long interspersed nuclear element loci, telomeric repeat loci, and classical satellite I, II, and III loci. Loci were assessed in hippocampus, skeletal muscle, liver and kidney. We identified epigenetic mark patterns at these loci. A striking symmetric distribution pattern centrally localized around specific tandem repeats showing epigenetic enrichment or depletion of marks was observed indicating a possible nucleosome positioning effect. Tissue-specific patterns were also identified.
Source: TSpace (University of Toronto)
Author: Kelly Rachel Mador-House
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2752615711