Linker domain function predicts pathogenic MLH1 missense variants
SCIE
SCOPUS
- Title
- Linker domain function predicts pathogenic MLH1 missense variants
- Authors
- Yang, Inho; London, James; Martin-Lopez, Juana; Liu, Jiaquan; LEE, JONG-BONG; Fishel, Richard
- Date Issued
- 2021-03-02
- Publisher
- NATL ACAD SCIENCES
- Abstract
- The pathogenic consequences of 369 unique human HsMLH1 missense variants has been hampered by the lack of a detailed function in mismatch repair (MMR). Here single-molecule images show that HsMSH2-HsMSH6 provides a platform for HsMLH1-HsPMS2 to form a stable sliding clamp on mismatched DNA. The mechanics of sliding clamp progression solves a significant operational puzzle in MMR and provides explicit predictions for the distribution of clinically relevant HsMLH1 missense mutations.
- Keywords
- ESCHERICHIA-COLI MUTS; DIFFUSION
- URI
- https://oasis.postech.ac.kr/handle/2014.oak/105134
- DOI
- 10.1073/pnas.2019215118
- ISSN
- 0027-8424
- Article Type
- Article
- Citation
- PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, vol. 118, no. 9, 2021-03-02
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