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Article

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.

Nucleic acids research - 15 May 2000

Genç B, Müller-Hartmann H, Zeschnigk M, Deissler H, Schmitz B, Majewski F, von Gontard A, Doerfler W

Abstract excerpt

Fragile X syndrome (FRAXA) is characterized at the molecular level by an expansion of a naturally occurring 5'-(CGG)(n)-3' repeat in the promoter and 5'-untranslated region (5'-UTR) of the fragile X mental retardation (FMR1) gene on human chromosome Xq27.3. When expanded, this region is usually hypermethylated. Inactivation of the FMR1 promoter and absence of the FMR1 protein are the likely cause of the syndrome....

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Identifiers

PMID: 10773084
DOI: 10.1093/nar/28.10.2141
PMCID: PMC105369

Genes

FMR1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.PMID 10773084Read ↗

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