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Article

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

Nucleic acids research - 1 Feb 2008

Entezam Ali, Usdin Karen

Abstract excerpt

Fragile X mental retardation syndrome is a repeat expansion disease caused by expansion of a CGG.CCG-repeat tract in the 5' UTR of the FMR1 gene. In humans, small expansions occur more frequently on paternal transmission while large expansions are exclusively maternal in origin. It has been suggested that expansion is the result of aberrant DNA replication, repair or recombination. To distinguish amongst these...

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Source

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Identifiers

PMID: 18160412
DOI: 10.1093/nar/gkm1136
PMCID: PMC2241920

Genes

ATR
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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ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice.PMID 18160412Read ↗

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

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

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

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

FMR1 premutation allele (CGG)81 is stable in mice.Semantic proximity Read ↗

Instability of a (CGG)98 repeat in the Fmr1 promoter.Semantic proximity Read ↗

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.Semantic proximity Read ↗

CGG repeat in the FMR1 gene: size matters.Semantic proximity Read ↗

Genetic modifiers of repeat expansion disorders.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 ↗

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

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.Semantic proximity Read ↗

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