DNA Triplet Repeat Expansion and Mismatch Repair

摘要: DNA mismatch repair is a conserved antimutagenic pathway that maintains genomic stability through rectification of replication errors and attenuation chromosomal rearrangements. Paradoxically, mutagenic action has been implicated as cause triplet repeat expansions neurological diseases such Huntington disease myotonic dystrophy. This process requires the recognition factor MutSβ MutLα (and/or possibly MutLγ) endonuclease, thought to be triggered by transient formation unusual structures within expanded element. review summarizes current knowledge involvement in expansion, which encompasses vitro biochemical findings, cellular studies, various vivo transgenic animal model experiments. We present mechanistic hypotheses regarding protein function mediating discuss potential therapeutic approaches targeting pathway.