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Article

Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome.

PloS one - 1 Jan 2011

Stöger Reinhard, Genereux Diane P, Hagerman Randi J, Hagerman Paul J, Tassone Flora, Laird Charles D

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Fragile X Mental Retardation Protein

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Share to Promoter Regions, Genetic

Source

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Identifiers

PMID: 21909353
DOI: 10.1371/journal.pone.0023648
PMCID: PMC3166088

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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