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DOI | 10.1073/pnas.2019215118 |
Linker domain function predicts pathogenic MLH1 missense variants | |
London J.; Martín-López J.; Yang I.; Liu J.; Lee J.-B.; Fishel R. | |
发表日期 | 2021 |
ISSN | 00278424 |
卷号 | 118期号:9 |
英文摘要 | 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. © 2021 National Academy of Sciences. All rights reserved. |
英文关键词 | HNPCC; Lynch syndrome; Mismatch repair; Single molecule; Sliding clamp |
语种 | 英语 |
来源期刊 | Proceedings of the National Academy of Sciences of the United States of America
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文献类型 | 期刊论文 |
条目标识符 | http://gcip.llas.ac.cn/handle/2XKMVOVA/180465 |
作者单位 | Department of Cancer Biology and Genetics, Ohio State University, Wexner Medical Center, Columbus, OH 43210, United States; Department of Physics, Pohang University of Science and Technology, Pohang, 37673, South Korea; School of Interdisciplinary Bioscience and Bioengineering, Pohang University of Science and Technology, Pohang, 37673, South Korea |
推荐引用方式 GB/T 7714 | London J.,Martín-López J.,Yang I.,et al. Linker domain function predicts pathogenic MLH1 missense variants[J],2021,118(9). |
APA | London J.,Martín-López J.,Yang I.,Liu J.,Lee J.-B.,&Fishel R..(2021).Linker domain function predicts pathogenic MLH1 missense variants.Proceedings of the National Academy of Sciences of the United States of America,118(9). |
MLA | London J.,et al."Linker domain function predicts pathogenic MLH1 missense variants".Proceedings of the National Academy of Sciences of the United States of America 118.9(2021). |
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