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Article

DNA mismatch repair complex MutSβ promotes GAA·TTC repeat expansion in human cells.

The Journal of biological chemistry - 24 Aug 2012

Halabi Anasheh, Ditch Scott, Wang Jeffrey, Grabczyk Ed

Abstract excerpt

While DNA repair has been implicated in CAG·CTG repeat expansion, its role in the GAA·TTC expansion of Friedreich ataxia (FRDA) is less clear. We have developed a human cellular model that recapitulates the DNA repeat expansion found in FRDA patient tissues. In this model, GAA·TTC repeats expand incrementally and continuously. We have previously shown that the expansion rate is linked to transcription within the...

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Source

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Identifiers

PMID: 22787155
DOI: 10.1074/jbc.M112.356758
PMCID: PMC3436174

Genes

GAA
MSH3
MSH2
FXN

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