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Article

Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.

Nucleic acids research - 1 Jan 2006

M Rindler Paul, Clark Rhonda M, Pollard Laura M, De Biase Irene, Bidichandani Sanjay I

Abstract excerpt

Friedreich ataxia is caused by an expanded (GAA.TTC)n sequence in intron 1 of the FXN gene. Small pool PCR analysis showed that pure (GAA.TTC)44+ sequences at the FXN locus are unstable in somatic cells in vivo, displaying both expansions and contractions. On searching the entire human and mouse genomes we identified three other genomic loci with pure (GAA.TTC)44+ sequences. Alleles at these loci showed mutation...

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Source

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Identifiers

PMID: 17142224
DOI: 10.1093/nar/gkl846
PMCID: PMC1669776

Genes

GAA
FXN

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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Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.PMID 17142224Read ↗

The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions.Semantic proximity Read ↗

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.Semantic proximity Read ↗

Large-scale expansions and replication stalling of Friedreich’s ataxia GAA repeats in an experimental mammalian systemSemantic proximity Read ↗

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Replication-independent instability of Friedreich's ataxia GAA repeats during chronological aging.Semantic proximity Read ↗

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Large-scale expansions of Friedreich’s ataxia GAA•TTC repeats in human cells are prevented by LNA-DNA oligonucleotides and PNA oligomersSemantic proximity Read ↗

GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases.Semantic proximity Read ↗

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