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Article

Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.

American journal of human genetics - 1 Nov 1999

Burman R W, Yates P A, Green L D, Jacky P B, Turker M S, Popovich B W

Abstract excerpt

The vast majority of fragile-X full mutations are heavily methylated throughout the expanded CGG repeat and the surrounding CpG island. Hypermethylation initiates and/or stabilizes transcriptional inactivation of the FMR1 gene, which causes the fragile X-syndrome phenotype characterized, primarily, by mental retardation. The relation between repeat expansion and hypermethylation is not well understood nor is it...

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Share to Alu Elements
Share to CpG Islands
Share to Deoxyribonucleases, Type II Site-Specific

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Restriction Enzymes

Share to Fragile X Mental Retardation Protein

Share to Fragile X Syndrome

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Source

Open in PubMed Open full text

Identifiers

PMID: 10521303
DOI: 10.1086/302628
PMCID: PMC1288290

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.PMID 10521303Read ↗

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A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.Semantic proximity Read ↗

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.Semantic proximity Read ↗

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.Semantic proximity Read ↗

Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation.Semantic proximity Read ↗

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.Semantic proximity Read ↗

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