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Article

Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation.

The Journal of cell biology - 1 Sept 2014

Gerhardt Jeannine, Zaninovic Nikica, Zhan Qiansheng, Madireddy Advaitha, Nolin Sarah L, Ersalesi Nicole, Yan Zi, Rosenwaks Zev, Schildkraut Carl L

Abstract excerpt

Fragile X syndrome (FXS) is caused by CGG repeat expansion that leads to FMR1 silencing. Women with a premutation allele are at risk of having a full mutation child with FXS. To investigate the mechanism of repeat expansion, we examined the relationship between a single-nucleotide polymorphism (SNP) variant that is linked to repeat expansion in haplogroup D and a replication origin located ∼53 kb upstream of the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25179629
DOI: 10.1083/jcb.201404157
PMCID: PMC4151148

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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