Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus.

ABSTRACT:

Background

Fragile X syndrome (FXS) is a common form of inherited intellectual disability caused by an expansion of CGG repeats located in the 5' untranslated region (UTR) of the FMR1 gene, which leads to hypermethylation and silencing of this locus. Although a dramatic increase in DNA methylation of the FMR1 full mutation allele is well documented, the extent to which these changes affect DNA methylation throughout the rest of the genome has gone unexplored.

Methods

Here we examined genome-wide methylation in both peripheral blood (N = 62) and induced pluripotent stem cells (iPSCs; N = 10) from FXS individuals and controls.

Results

We not only found the expected significant DNA methylation differences in the FMR1 promoter and 5' UTR, we also saw that these changes in

SUBMITTER: Alisch RS 

PROVIDER: S-EPMC3599197 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature