Journal
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 84
Volume 84, Issue -, Pages 199-226Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-biochem-060614-034010
Keywords
DNA mismatch repair; triplet repeats; repeat expansion diseases; hereditary neurological diseases; non-B-DNA structures
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Funding
- NINDS NIH HHS [7R01NS081366, R01 NS081366] Funding Source: Medline
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS081366] Funding Source: NIH RePORTER
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DNA mismatch repair is a conserved antimutagenic pathway that maintains genomic stability through rectification of DNA replication errors and attenuation of chromosomal rearrangements. Paradoxically, mutagenic action of mismatch repair has been implicated as a cause of triplet repeat expansions that cause neurological diseases such as Huntington disease and myotonic dystrophy. This mutagenic process requires the mismatch recognition factor Mut(sic)beta and the MutL alpha (and/or possibly MutL gamma) endonuclease, and is thought to be triggered by the transient formation of unusual DNA structures within the expanded triplet repeat element. This review summarizes the current knowledge of DNA mismatch repair involvement in triplet repeat expansion, which encompasses in vitro biochemical findings, cellular studies, and various in vivo transgenic animal model experiments. We present current mechanistic hypotheses regarding mismatch repair protein function in mediating triplet repeat expansions and discuss potential therapeutic approaches targeting the mismatch repair pathway.
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