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Article

Molecular dissection of the events leading to inactivation of the FMR1 gene.

Human molecular genetics - 15 Jan 2005

Pietrobono Roberta, Tabolacci Elisabetta, Zalfa Francesca, Zito Ilaria, Terracciano Alessandra, Moscato Umberto, Bagni Claudia, Oostra Ben, Chiurazzi Pietro, Neri Giovanni

Abstract excerpt

The analysis of a lymphoblastoid cell line (5106), derived from a rare individual of normal intelligence with an unmethylated full mutation of the FMR1 gene, allowed us to reconstruct the chain of molecular events leading to the FMR1 inactivation and to fragile X syndrome. We found that lack of DNA methylation of the entire promoter region, including the expanded CGG repeat, correlates with methylation of lysine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15563507
DOI: 10.1093/hmg/ddi024

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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Molecular dissection of the events leading to inactivation of the FMR1 gene.PMID 15563507Read ↗

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