期刊
MOLECULAR CELL
卷 6, 期 6, 页码 1501-1507出版社
CELL PRESS
DOI: 10.1016/S1097-2765(00)00146-5
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资金
- NCI NIH HHS [P30 CA36727, T32 CA09476] Funding Source: Medline
- NIGMS NIH HHS [GM61961] Funding Source: Medline
Disease-causing expansions of trinucleotide repeats (TNRs) can occur very frequently. In contrast, expansions are rare if the TNR is interrupted (imperfect). The molecular mechanism stabilizing interrupted alleles and thereby preventing disease has been elusive. We show that mismatch repair is the major stabilizing force for interrupted TNRs in Saccharomyces cerevisiae. Interrupted alleles expand much more often when mismatch repair is blocked by mutation or by poorly corrected mispairs. These results suggest that interruptions lead to mismatched expansion precursors. In normal cells, expansions are prevented in trans by mismatch repair, which coexcises the mismatches plus the aberrant, TNR-mediated secondary structure that otherwise resists removal. This study indicates a novel role for mismatch repair in mutation avoidance and, potentially, in disease prevention.
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