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Article

The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutation.

Human mutation - 1 Apr 2015

Zhao Xiao-Nan, Usdin Karen

Abstract excerpt

The fragile X-related disorders (FXDs) are members of the group of diseases known as the repeat expansion diseases. The FXDs result from expansion of an unstable CGG/CCG repeat tract in the 5' UTR of the FMR1 gene. Contractions are also seen, albeit at lower frequency. We have previously shown that ERCC6/CSB plays an auxiliary role in promoting germ line and somatic expansions in a mouse model of the FXDs....

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Share to DNA Repair Enzymes
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 25726753
DOI: 10.1002/humu.22777
PMCID: PMC4382389

Genes

ERCC6
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.

Related research

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Research trail→

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The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutation.PMID 25726753Read ↗

Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders.Semantic proximity Read ↗

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?Semantic proximity Read ↗

ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice.Semantic proximity Read ↗

Heterozygosity for a hypomorphic Polβ mutation reduces the expansion frequency in a mouse model of the Fragile X-related disorders.Semantic proximity Read ↗

The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.Semantic proximity Read ↗

MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the <i>FMR1</i> locus in fragile X syndromeSemantic proximity Read ↗

Somatic expansion in mouse and human carriers of fragile X premutation alleles.Semantic proximity Read ↗

ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice.Semantic proximity Read ↗

Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.Semantic proximity Read ↗

A MutSβ-Dependent Contribution of MutSα to Repeat Expansions in Fragile X Premutation Mice?Semantic proximity Read ↗

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

Repeat expansion in a Fragile X model is independent of double strand break repair mediated by Pol θ, Rad52, Rad54l or Rad54bSemantic proximity Read ↗

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