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

Authors :: van Oers JM
Roa S
Werling U
Liu Y
Genschel J
Hou H Jr
Sellers RS
Modrich P
Scharff MD
Edelmann W
Source :: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2010 Jul 27; Vol. 107 (30), pp. 13384-9. Date of Electronic Publication: 2010 Jul 12.
Publication Year :: 2010
Abstract: 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.

Language :: English
ISSN :: 1091-6490
Volume :: 107
Issue :: 30
Database :: MEDLINE
Journal :: Proceedings of the National Academy of Sciences of the United States of America
Publication Type :: Academic Journal
Accession number :: 20624957
Full Text :: https://doi.org/10.1073/pnas.1008589107

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