InterPro : IPR028831

Name  DNA mismatch repair protein Pms1/Pms2 Short Name  Pms1/Pms2/PMS2L
Type  Family Description  There are four mammalian homologues to the bacterial mismatch repair component MutL: Pms1 (and Pms2) and Mlh1-3 []. This entry represents DNA mismatch repair protein Pms1 (post-Meiotic Segregation 1) in yeasts and plants, which is known as Pms2 in humans. The major MutL activity in eukaryotes is performed by MutL-alpha, the heterocomplex of Mlh1-Pms1 in yeast and plants, and Mlh1-Pms2 in humans [, ]. This entry also includes Pms2-like proteins (PMS2CL) []. The PMS2CL gene is a pseudogene that has significant similarity to the 3' end of Pms2. In humans, Pms2 and PMS2CL genes can undergo extensive gene conversion []. DNA repair is initiated by MutS-alpha (Msh2-Msh6) or MutS-beta (Msh2-Msh6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of Pms2. Pms2 introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease Exo1 to degrade the strand containing the mismatch [, , , ]. It is also implicated in DNA damage signalling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages [].Mutations in Pms2 cause Hereditary non-polyposis colorectal cancer 4 (HNPCC4) []and Mismatch repair cancer syndrome (MMRCS) [].
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Proteins

InterPro protein domain ID --> Contigs

 

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1 Parent Features

Id Name Short Name Type
IPR002099 DNA mismatch repair protein family DNA_mismatch_repair_fam Family

11 Publications

First Author Title Year Journal Volume Pages
Wang TF Functional specificity of MutL homologs in yeast: evidence for three Mlh1-based heterocomplexes with distinct roles during meiosis in recombination and mismatch correction. 1999 Proc Natl Acad Sci U S A 96 13914-9
Kadyrov FA Endonucleolytic function of MutLalpha in human mismatch repair. 2006 Cell 126 297-308
Jiricny J MutLalpha: at the cutting edge of mismatch repair. 2006 Cell 126 239-41
Li GM Mechanisms and functions of DNA mismatch repair. 2008 Cell Res 18 85-98
Constantin N Human mismatch repair: reconstitution of a nick-directed bidirectional reaction. 2005 J Biol Chem 280 39752-61
Shimodaira H Interaction of mismatch repair protein PMS2 and the p53-related transcription factor p73 in apoptosis response to cisplatin. 2003 Proc Natl Acad Sci U S A 100 2420-5
Kondo E The human PMS2L proteins do not interact with hMLH1, a major DNA mismatch repair protein. 1999 J Biochem 125 818-25
Vaughn CP The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 2013 Genes Chromosomes Cancer 52 107-12
Clendenning M A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. 2008 J Med Genet 45 340-5
Auclair J Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 2007 Hum Mutat 28 1084-90
Galles C Yeast mutator phenotype enforced by Arabidopsis PMS1 expression. 2013 Mol Biol Rep 40 2107-14



To cite PlanMine, please refer to the following publication:

Rozanski, A., Moon, H., Brandl, H., Martín-Durán, J. M., Grohme, M., Hüttner, K., Bartscherer, K., Henry, I., & Rink, J. C.
PlanMine 3.0—improvements to a mineable resource of flatworm biology and biodiversity
Nucleic Acids Research, gky1070. doi:10.1093/nar/gky1070 (2018)