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标题：PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance
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作者：Johanna M. M. van Oers ; Sergio Roa ; Uwe Werling 等
期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：2010
卷号：107
期号：30
页码：13384-13389
DOI：10.1073/pnas.1008589107
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：The DNA mismatch repair protein PMS2 was recently found to encode a novel endonuclease activity. To determine the biological functions of this activity in mammals, we generated endonuclease-deficient Pms2E702K knock-in mice. Pms2EK/EK mice displayed increased genomic mutation rates and a strong cancer predisposition. In addition, class switch recombination, but not somatic hypermutation, was impaired in Pms2EK/EK B cells, indicating a specific role in Ig diversity. In contrast to Pms2-/- mice, Pms2EK/EK male mice were fertile, indicating that this activity is dispensable in spermatogenesis. Therefore, the PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance and tumor suppression.
关键词：DNA mismatch repair ; B cell lymphoma ; class switch recombination ; somatic hypermutation ; spermatogenesis