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Article

Role of CTCF protein in regulating FMR1 locus transcription.

PLoS genetics - 1 Jan 2013

Lanni Stella, Goracci Martina, Borrelli Loredana, Mancano Giorgia, Chiurazzi Pietro, Moscato Umberto, Ferrè Fabrizio, Helmer-Citterich Manuela, Tabolacci Elisabetta, Neri Giovanni

Abstract excerpt

Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, is caused by epigenetic silencing of the FMR1 gene, through expansion and methylation of a CGG triplet repeat (methylated full mutation). An antisense transcript (FMR1-AS1), starting from both promoter and intron 2 of the FMR1 gene, was demonstrated in transcriptionally active alleles, but not in silent FXS alleles. Moreover, a DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23874213
DOI: 10.1371/journal.pgen.1003601
PMCID: PMC3715420

Genes

FMR1
CTCF

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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