fragile X mental retardation
fragile X syndrome
Etiology
expansion of a CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). This polymorphic CGG triplet repeat results in silencing of FMR1 expression. This expansion triggers methylation of FMR1's CpG island, hypoacetylation of associated histones, and chromatin condensation, all characteristics of a transcriptionally inactive gene.
References
Jin P, Warren ST. Understanding the molecular basis of fragile X syndrome. Hum Mol Genet. 2000 Apr 12;9(6):901-8. PMID: #10767313#
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