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Title: Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus
Authors: Al-Mahdawi, S
Sandi, C
Mouro Pinto, R
Pook, MA
Issue Date: 2013
Publisher: Public Library of Science
Citation: PLoS One, 8(9), e74956 , 2013
Abstract: Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, which induces epigenetic changes and FXN gene silencing. Bisulfite sequencing studies have identified 5-methylcytosine (5 mC) DNA methylation as one of the epigenetic changes that may be involved in this process. However, analysis of samples by bisulfite sequencing is a time-consuming procedure. In addition, it has recently been shown that 5-hydroxymethylcytosine (5 hmC) is also present in mammalian DNA, and bisulfite sequencing cannot distinguish between 5 hmC and 5 mC.
Description: © 2013 Al-Mahdawi et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use,distribution, and reproduction in any medium, provided the original author and source are credited.
This article has been made available through the Brunel Open Access Publishing Fund.
ISSN: 1932-6203
Appears in Collections:Publications
Brunel OA Publishing Fund
Dept of Life Sciences Research Papers

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