PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae))
2005-12-01 Enric Domingo , Simo Schwartz Jr AffiliationOncologia Molecular i Envelliment, Centre dInvestigacions en Bioqumica i Biologia Molecular (CIBBIM) Hospital Universitari Vall dHebron Passeig Vall dHebron 119-129 Barcelona 08035, Catalonia, Spain
Identity
HGNC
LOCATION
2q32.2
LOCUSID
ALIAS
HNPCC3,MLH2,PMSL1,hPMS1
FUSION GENES
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
Proteins
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.
Implicated in
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11900875 | 2002 | DNA mismatch repair defects: role in colorectal carcinogenesis. | Jacob S et al |
| 11292842 | 2001 | The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2. | Kondo E et al |
| 11691795 | 2001 | The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. | Liu T et al |
| 8072530 | 1994 | Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. | Nicolaides NC et al |
| 16136382 | 2005 | Lynch syndrome genes. | Peltomäki P et al |
| 9500552 | 1998 | Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. | Prolla TA et al |
| 10542278 | 1999 | Identification of hMutLbeta, a heterodimer of hMLH1 and hPMS1. | Räschle M et al |
| 9500994 | 1998 | Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1. | Yanagisawa Y et al |
Other Information
Locus ID:
NCBI: 5378
MIM: 600258
HGNC: 9121
Ensembl: ENSG00000064933
Variants:
dbSNP: 5378
ClinVar: 5378
TCGA: ENSG00000064933
COSMIC: PMS1
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34807001 | 2022 | Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations with clinical data in rectal mucinous adenocarcinoma. | 1 |
| 34852986 | 2022 | Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant. | 0 |
| 34807001 | 2022 | Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations with clinical data in rectal mucinous adenocarcinoma. | 1 |
| 34852986 | 2022 | Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant. | 0 |
| 30590005 | 2019 | Associations of Genetic Variations in Mismatch Repair Genes MSH3 and PMS1 with Acute Adverse Events and Survival in Patients with Rectal Cancer Receiving Postoperative Chemoradiotherapy. | 7 |
| 30590005 | 2019 | Associations of Genetic Variations in Mismatch Repair Genes MSH3 and PMS1 with Acute Adverse Events and Survival in Patients with Rectal Cancer Receiving Postoperative Chemoradiotherapy. | 7 |
| 25162662 | 2014 | Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population. | 4 |
| 25162662 | 2014 | Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population. | 4 |
| 23608172 | 2013 | The mismatch repair gene hPMS1 (human postmeiotic segregation1) is down regulated in oral squamous cell carcinoma. | 4 |
| 24204293 | 2013 | Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway. | 44 |
| 23608172 | 2013 | The mismatch repair gene hPMS1 (human postmeiotic segregation1) is down regulated in oral squamous cell carcinoma. | 4 |
| 24204293 | 2013 | Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway. | 44 |
| 20496165 | 2011 | Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. | 13 |
| 20496165 | 2011 | Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. | 13 |
| 19692168 | 2010 | Genetic susceptibility to distinct bladder cancer subphenotypes. | 30 |
Citation
Enric Domingo ; Simo Schwartz Jr
PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae))
Atlas Genet Cytogenet Oncol Haematol. 2005-12-01
Online version: http://atlasgeneticsoncology.org/gene/345/pms1
