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Publication : PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.

First Author  van Oers JM Year  2010
Journal  Proc Natl Acad Sci U S A Volume  107
Issue  30 Pages  13384-9
PubMed ID  20624957 Mgi Jnum  J:162378
Mgi Id  MGI:4818810 Doi  10.1073/pnas.1008589107
Citation  van Oers JM, et al. (2010) PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. Proc Natl Acad Sci U S A 107(30):13384-9
abstractText  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.
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