PMS1

PMS1

A human homologue of the Saccharomyces cerevisiae DNA mismatch repair gene, located on chromosome 2q31-q33, which encodes an enzyme that scans newly replicated DNA for errors and repairs mismatched base pairs.

Molecular pathology
A germline mutation of MLH1 occurs in ± 1% of patients with hereditary nonpolyposis colon cancer. Defects in MLH1 also cause mismatch repair cancer syndrome, Muir-Torre syndrome, and increase susceptibility to endometrial cancer.
References in periodicals archive ?
On the other hand, low-level microsatellite instability has not been associated with such mismatch repair gene alterations, although other mismatch repair genes such as PMS1 and MSH6 have not been studied.
2] Human genes: BRCA1, breast cancer 1, early onset; BRCA2, breast cancer 2, early onset; MGST3, microsomal glutathione S-transferase 3; GBP1, guanylate binding protein 1, interferon-inducible, 67kDa; MTAP, methylthioadenosine phosphorylase; GGH, gamma-glutamyl hydrolase (conjugase, folylpolygamma-glutamyl hydrolase); MADCAM1, mucosal vascular addressin cell adhesion molecule 1; POSTN, periostin, osteoblast specific factor; PMS1, PMS1 postmeiotic segregation increased 1 (S.
Gene Gene name US patent symbol MGST3 Microsomal glutathione S-transferase 3 5,919,627 GBP1 Guanylate binding protein 1, interferon- 6,894,157 inducible, 67kDa GGH Gamma-glutamyl hydrolase (conjugase, 5,801,031 folylpolygammaglutamyl hydrolase) MTAP Methylthioadenosine phosphorylase 5,942,393; 6,870,037 MADCAM1 Mucosal vascular addressin cell adhesion 7,750,137 molecule 1 POSTN Periostin, osteoblast specific factor 6,518,063 PMS1 PMS1 postmeiotic segregation increased 1 5,922,855; (S.
93) Germline mutations of mismatch repair genes, including MLH1, MSH2, PMS1, PMS2, and MSH6, are associated with HNPCC.
In families with HNPCC, 214 different germline mutations have been described to date by direct sequence analysis: 127 mutations were located in the MLH1 gene and 81 in the MSH2 gene, whereas only 6 mutations were detected in the MSH6, the PMS1, or the PMS2 gene (9).
DNA repair defects are caused by mutations in genes responsible for the repair of base-base DNA mismatches (MLH1, MLH3, MSH2, MSH6, PMS1, PMS2).
Germline mutations in several human DNA mismatch repair genes, including MSH2, MLH1, PMS1, PMS2, and MSH6/GTBP, have been identified in patients with hereditary nonpolyposis colorectal cancer (HNPCC).