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Article

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

Human mutation - 1 Jan 2014

Lokanga Rachel Adihe, Zhao Xiao-Nan, Usdin Karen

Abstract excerpt

Fragile X-associated tremor and ataxia syndrome, Fragile X-associated primary ovarian insufficiency, and Fragile X syndrome are Repeat Expansion Diseases caused by expansion of a CGG•CCG-repeat microsatellite in the 5 UTR of the FMR1 gene. To help understand the expansion mechanism responsible for these disorders, we have crossed mice containing∼147 CGG•CCG repeats in the endogenous murine Fmr1 gene with mice...

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Share to Disease Models, Animal
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mice, Inbred C57BL

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Share to MutS Homolog 2 Protein

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Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 24130133
DOI: 10.1002/humu.22464
PMCID: PMC3951054

Genes

MSH2
FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.PMID 24130133Read ↗

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

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

Reconciling the effects of PMS2 in different repeat expansion disease models supports a common expansion mechanismSemantic 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 ↗

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.Semantic proximity Read ↗

DNA mismatch repair complex MutSβ promotes GAA·TTC repeat expansion in human cells.Semantic proximity Read ↗

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.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 ↗

Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion.Semantic proximity Read ↗

A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders.Semantic proximity Read ↗

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

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

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