Literature DB >> 20624957

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

Johanna M M van Oers1, Sergio Roa, Uwe Werling, Yiyong Liu, Jochen Genschel, Harry Hou, Rani S Sellers, Paul Modrich, Matthew D Scharff, Winfried Edelmann.   

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.

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Year:  2010        PMID: 20624957      PMCID: PMC2922181          DOI: 10.1073/pnas.1008589107

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  40 in total

1.  Mechanism of 5'-directed excision in human mismatch repair.

Authors:  Jochen Genschel; Paul Modrich
Journal:  Mol Cell       Date:  2003-11       Impact factor: 17.970

2.  A defined human system that supports bidirectional mismatch-provoked excision.

Authors:  Leonid Dzantiev; Nicoleta Constantin; Jochen Genschel; Ravi R Iyer; Peter M Burgers; Paul Modrich
Journal:  Mol Cell       Date:  2004-07-02       Impact factor: 17.970

3.  Mbd4 inactivation increases Cright-arrowT transition mutations and promotes gastrointestinal tumor formation.

Authors:  Edmund Wong; Kan Yang; Mari Kuraguchi; Uwe Werling; Elena Avdievich; Kunhua Fan; Melissa Fazzari; Bo Jin; Anthony M C Brown; Martin Lipkin; Winfried Edelmann
Journal:  Proc Natl Acad Sci U S A       Date:  2002-11-04       Impact factor: 11.205

4.  Switch junction sequences in PMS2-deficient mice reveal a microhomology-mediated mechanism of Ig class switch recombination.

Authors:  M R Ehrenstein; C Rada; A M Jones; C Milstein; M S Neuberger
Journal:  Proc Natl Acad Sci U S A       Date:  2001-11-20       Impact factor: 11.205

5.  Mutagenesis in PMS2- and MSH2-deficient mice indicates differential protection from transversions and frameshifts.

Authors:  S E Andrew; X S Xu; A Baross-Francis; L Narayanan; K Milhausen; R M Liskay; F R Jirik; P M Glazer
Journal:  Carcinogenesis       Date:  2000-07       Impact factor: 4.944

6.  Inactivation of Exonuclease 1 in mice results in DNA mismatch repair defects, increased cancer susceptibility, and male and female sterility.

Authors:  Kaichun Wei; Alan B Clark; Edmund Wong; Michael F Kane; Dan J Mazur; Tchaiko Parris; Nadine K Kolas; Robert Russell; Harry Hou; Burkhard Kneitz; Guohze Yang; Thomas A Kunkel; Richard D Kolodner; Paula E Cohen; Winfried Edelmann
Journal:  Genes Dev       Date:  2003-03-01       Impact factor: 11.361

7.  Loss of heterozygosity and point mutation at Aprt locus in T cells and fibroblasts of Pms2-/- mice.

Authors:  Changshun Shao; Moying Yin; Li Deng; Peter J Stambrook; Thomas Doetschman; Jay A Tischfield
Journal:  Oncogene       Date:  2002-04-25       Impact factor: 9.867

Review 8.  Functions of human DNA polymerases eta, kappa and iota suggested by their properties, including fidelity with undamaged DNA templates.

Authors:  Thomas A Kunkel; Youri I Pavlov; Katarzyna Bebenek
Journal:  DNA Repair (Amst)       Date:  2003-02-03

9.  A novel interaction between human DNA polymerase eta and MutLalpha.

Authors:  Rie Kanao; Fumio Hanaoka; Chikahide Masutani
Journal:  Biochem Biophys Res Commun       Date:  2009-08-22       Impact factor: 3.575

10.  Mlh1 can function in antibody class switch recombination independently of Msh2.

Authors:  Carol E Schrader; Joycelyn Vardo; Janet Stavnezer
Journal:  J Exp Med       Date:  2003-05-12       Impact factor: 14.307

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  35 in total

1.  Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

Authors:  Mark Drost; Hester Koppejan; Niels de Wind
Journal:  Hum Mutat       Date:  2013-09-11       Impact factor: 4.878

2.  piRNA profiling during specific stages of mouse spermatogenesis.

Authors:  Haiyun Gan; Xiwen Lin; Zhuqiang Zhang; Wei Zhang; Shangying Liao; Lixian Wang; Chunsheng Han
Journal:  RNA       Date:  2011-05-20       Impact factor: 4.942

3.  Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site.

Authors:  Emeric Gueneau; Claudine Dherin; Pierre Legrand; Carine Tellier-Lebegue; Bernard Gilquin; Pierre Bonnesoeur; Floriana Londino; Cathy Quemener; Marie-Hélene Le Du; Josan A Márquez; Mireille Moutiez; Muriel Gondry; Serge Boiteux; Jean-Baptiste Charbonnier
Journal:  Nat Struct Mol Biol       Date:  2013-02-24       Impact factor: 15.369

4.  An intact Pms2 ATPase domain is not essential for male fertility.

Authors:  Jared M Fischer; Sandra Dudley; Ashleigh J Miller; R Michael Liskay
Journal:  DNA Repair (Amst)       Date:  2015-12-29

5.  Somatic hypermutation at A/T-rich oligonucleotide substrates shows different strand polarities in Ung-deficient or -proficient backgrounds.

Authors:  Marija Zivojnovic; Frédéric Delbos; Giulia Girelli Zubani; Amélie Julé; Alexandre Alcais; Jean-Claude Weill; Claude-Agnès Reynaud; Sébastien Storck
Journal:  Mol Cell Biol       Date:  2014-04-07       Impact factor: 4.272

Review 6.  Eukaryotic Mismatch Repair in Relation to DNA Replication.

Authors:  Thomas A Kunkel; Dorothy A Erie
Journal:  Annu Rev Genet       Date:  2015       Impact factor: 16.830

Review 7.  AIDing antibody diversity by error-prone mismatch repair.

Authors:  Richard Chahwan; Winfried Edelmann; Matthew D Scharff; Sergio Roa
Journal:  Semin Immunol       Date:  2012-06-14       Impact factor: 11.130

Review 8.  Mismatch-mediated error prone repair at the immunoglobulin genes.

Authors:  Richard Chahwan; Winfried Edelmann; Matthew D Scharff; Sergio Roa
Journal:  Biomed Pharmacother       Date:  2011-10-24       Impact factor: 6.529

Review 9.  Endonuclease activities of MutLα and its homologs in DNA mismatch repair.

Authors:  Lyudmila Y Kadyrova; Farid A Kadyrov
Journal:  DNA Repair (Amst)       Date:  2015-12-02

Review 10.  Mechanisms in E. coli and Human Mismatch Repair (Nobel Lecture).

Authors:  Paul Modrich
Journal:  Angew Chem Int Ed Engl       Date:  2016-05-20       Impact factor: 15.336

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