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Article

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

PLoS genetics - 1 Apr 2015

Lokanga Rachel Adihe, Senejani Alireza Ghodsi, Sweasy Joann Balazs, Usdin Karen

Abstract excerpt

The Fragile X-related disorders (FXDs) are members of the Repeat Expansion Diseases, a group of human genetic conditions resulting from expansion of a specific tandem repeat. The FXDs result from expansion of a CGG/CCG repeat tract in the 5' UTR of the FMR1 gene. While expansion in a FXD mouse model is known to require some mismatch repair (MMR) proteins, our previous work and work in mouse models of another...

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Share to Disease Models, Animal
Share to DNA Mismatch Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Polymerase beta

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Share to Fragile X Mental Retardation Protein

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Source

Open in PubMed Open full text

Identifiers

PMID: 25886163
DOI: 10.1371/journal.pgen.1005181
PMCID: PMC4401650

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterozygosity for a hypomorphic Polβ mutation reduces the expansion frequency in a mouse model of the Fragile X-related disorders.PMID 25886163Read ↗

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

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

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

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

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

FAN1 protects against repeat expansions in a Fragile X mouse model.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 ↗

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

Instability of the fragile X syndrome repeat in mice: the effect of age, diet and mutations in genes that affect DNA replication, recombination and repair proficiency.Semantic proximity Read ↗

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

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