Ontology highlight
ABSTRACT:
SUBMITTER: Stoger R
PROVIDER: S-EPMC3166088 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
PloS one 20110831 8
Variability among individuals in the severity of fragile X syndrome (FXS) is influenced by epigenetic methylation mosaicism, which may also be common in other complex disorders. The epigenetic signal of dense promoter DNA methylation is usually associated with gene silencing, as was initially reported for FMR1 alleles in individuals with FXS. A paradox arose when significant levels of FMR1 mRNA were reported for some males with FXS who had been reported to have predominately methylated alleles. ...[more]