| Written | 2005-12 | Enric Domingo, Simo Schwartz Jr |
| Oncologia Molecular i Envelliment, Centre d'Investigacions en Bioqumica i Biologia Molecular (CIBBIM) Hospital Universitari Vall d'Hebron Passeig Vall d'Hebron 119-129 Barcelona 08035, Catalonia, Spain |
| Identity |
| Alias_names | PMSL1 |
| postmeiotic segregation increased (S. cerevisiae) 1 | |
| PMS1 postmeiotic segregation increased 1 (S. cerevisiae) | |
| Alias_symbol (synonym) | MLH2 |
| Other alias | HNPCC3 |
| HGNC (Hugo) | PMS1 |
| LocusID (NCBI) | 5378 |
| Atlas_Id | 345 |
| Location | 2q32.2 [Link to chromosome band 2q32] |
| Location_base_pair | Starts at 189784085 and ends at 189877629 bp from pter ( according to hg19-Feb_2009) [Mapping PMS1.png] |
| Fusion genes (updated 2016) | EEF1A1 (6q13) / PMS1 (2q32.2) | PMS1 (2q32.2) / FN1 (2q35) | PMS1 (2q32.2) / GCG (2q24.2) |
| DNA/RNA |
 | |
| Diagram of the PMS1 gene. Exons are represented by boxes (in scale) transcribed and untranscribed sequences in blue and yellow, with exon numbers on top and number of base pairs at the bottom. Introns are represented by black bars (not in scale) and the number of base pairs indicated. The arrows show the ATG and the stop codons respectively. | |
| Description | The PMS1 gene is composed of 13 exons spanning in a region of 93056 bp. |
| Transcription | The transcribed mRNA has 3032 bp |
| Protein |
| Description | Amino acids: 932. Molecular Weight: 105830 Daltons. PMS1 is a protein involved in the mismatch repair process after DNA replication. |
| Function | PMS1 binds to MLH1 to form a heterodimer, although MLH1 can also bind to PMS2 or MLH3. Although MLH1/PMS2 binds to the heteroduplexes MutSa (composed of MSH2 and MSH6) or MutSβ (composed of MSH2 and MSH3), which recognize DNA lesions, it remains to be demonstrated the involvement of the MLH1/PMS1 heterodimer in the mismatch repair process, despite that the heterodimer MLH1/PMS2 is responsible for the recruitment of the proteins needed for the excision and repair synthesis. |
| Homology | PMS1 is homologue to the bacterial MutL gene and to the Mlh2 gene in yeasts. |
| Mutations |
| Germinal | A truncating germline mutation of PMS1 was found in one HNPCC patient. Nevertheless, a MSH2 mutation was found in this family, which was the only one that co-segregated with colon cancer. In addition, no more HNPCC patients have been found with mutations in this gene, and PMS1 -/- mice show no discernible phenotype. So there is no evidence that PMS1 mutations predispose to HNPCC. |
| Bibliography |
| DNA mismatch repair defects: role in colorectal carcinogenesis. |
| Jacob S, Praz F |
| Biochimie. 2002 ; 84 (1) : 27-47. |
| PMID 11900875 |
| The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2. |
| Kondo E, Horii A, Fukushige S |
| Nucleic acids research. 2001 ; 29 (8) : 1695-1702. |
| PMID 11292842 |
| The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. |
| Liu T, Yan H, Kuismanen S, Percesepe A, Bisgaard ML, Pedroni M, Benatti P, Kinzler KW, Vogelstein B, Ponz de Leon M, Peltomäki P, Lindblom A |
| Cancer research. 2001 ; 61 (21) : 7798-7802. |
| PMID 11691795 |
| Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. |
| Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM |
| Nature. 1994 ; 371 (6492) : 75-80. |
| PMID 8072530 |
| Lynch syndrome genes. |
| Peltomä P |
| Familial cancer. 2005 ; 4 (3) : 227-232. |
| PMID 16136382 |
| Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. |
| Prolla TA, Baker SM, Harris AC, Tsao JL, Yao X, Bronner CE, Zheng B, Gordon M, Reneker J, Arnheim N, Shibata D, Bradley A, Liskay RM |
| Nature genetics. 1998 ; 18 (3) : 276-279. |
| PMID 9500552 |
| Identification of hMutLbeta, a heterodimer of hMLH1 and hPMS1. |
| Räschle M, Marra G, Nyström-Lahti M, Schär P, Jiricny J |
| The Journal of biological chemistry. 1999 ; 274 (45) : 32368-32375. |
| PMID 10542278 |
| Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1. |
| Yanagisawa Y, Ito E, Iwahashi Y, Akiyama Y, Yuasa Y, Maruyama K |
| Biochemical and biophysical research communications. 1998 ; 243 (3) : 738-743. |
| PMID 9500994 |
| Citation |
| This paper should be referenced as such : |
| Domingo, E ; Schwartz, S Jr. PMS1 (PMS1 postmeiotic segregation increased 1 (S |
| cerevisiae)) |
| Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):157-158. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/PMS1ID345ch2q31.html |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ] |
|
Breast tumors : an overview
Breast: Ductal carcinoma |
| Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Hereditary non polyposis colorectal carcinoma (HNPCC Syndrome) |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:15:19 CEST 2017 |
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