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哺乳动物DNA错配修复

Mammalian DNA mismatch repair.

作者信息

Buermeyer A B, Deschênes S M, Baker S M, Liskay R M

机构信息

Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201-3098, USA.

出版信息

Annu Rev Genet. 1999;33:533-64. doi: 10.1146/annurev.genet.33.1.533.

DOI:10.1146/annurev.genet.33.1.533
PMID:10690417
Abstract

DNA mismatch repair (MMR) is one of multiple replication, repair, and recombination processes that are required to maintain genomic stability in prokaryotes and eukaryotes. In the wake of the discoveries that hereditary nonpolyposis colorectal cancer (HNPCC) and other human cancers are associated with mutations in MMR genes, intensive efforts are under way to elucidate the biochemical functions of mammalian MutS and MutL homologs, and the consequences of defects in these genes. Genetic studies in cultured mammalian cells and mice are proving to be instrumental in defining the relationship between the functions of MMR in mutation and tumor avoidance. Furthermore, these approaches have raised awareness that MMR homologs contribute to DNA damage surveillance, transcription-coupled repair, and recombinogenic and meiotic processes.

摘要

DNA错配修复(MMR)是原核生物和真核生物中维持基因组稳定性所需的多种复制、修复和重组过程之一。在发现遗传性非息肉病性结直肠癌(HNPCC)和其他人类癌症与MMR基因突变相关之后,人们正在深入研究以阐明哺乳动物MutS和MutL同源物的生化功能,以及这些基因缺陷所产生的后果。对培养的哺乳动物细胞和小鼠进行的遗传学研究,在确定MMR在突变和肿瘤避免中的功能之间的关系方面发挥了重要作用。此外,这些研究方法还提高了人们的认识,即MMR同源物有助于DNA损伤监测、转录偶联修复以及重组和减数分裂过程。

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Mammalian DNA mismatch repair.哺乳动物DNA错配修复
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Functional analysis of HNPCC-related missense mutations in MSH2.MSH2中与遗传性非息肉病性结直肠癌相关错义突变的功能分析
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