Alternative titles; symbols
HGNC Approved Gene Symbol: PMS1
Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:189,784,450-189,877,629 (from NCBI)
In screening a database of human genes identified by the expressed sequence tag (EST) method (Adams et al., 1991), Papadopoulos et al. (1994) identified 2 ESTs with homology to bacterial and yeast mutL genes. The 2 had greatest homology to the yeast PMS1 gene and therefore the human genes were designated PMS1 and PMS2 (600259). Sequence analysis of human PMS1 cDNA identified an open reading frame (ORF) of 2,795 bp thought to encode a 932-residue protein with 27% identity to yeast PMS1. Sequence analysis of the human PMS2 clone identified a 2,586-bp ORF thought to encode an 862-residue protein with 32% identity to yeast PMS1.
Horii et al. (1994) isolated and analyzed human counterparts of the yeast PMS1 gene. DNA sequencing analyses indicated that human PMS genes constitute a multiple gene family.
Nicolaides et al. (1994) mapped the PMS1 gene to chromosome 2q31-q33 by fluorescence in situ hybridization.
In 22 patients with a family history of hereditary nonpolyposis colon cancer (HNPCC; see HNPCC1, 120435) who did not have demonstrable mutations in MSH2 (609309) or MLH1 (120436), Nicolaides et al. (1994) used an in vitro synthesized protein (IVSP) assay to detect mutations that result in an altered size of the protein product. They detected a deletion in the PMS1 gene that resulted in exon skipping. However, Liu et al. (2001) demonstrated that this patient carried a germline mutation in the MSH2 gene consistent with her microsatellite instability-positive tumor. Another relative who developed colorectal cancer carried the MSH2 mutation but not the PMS1 mutation, demonstrating that MSH2 predisposes to HNPCC1 in this family. The form of HNPCC in this family had previously been designated HNPCC3.
Adams, M. D., Kelley, J. M., Gocayne, J. D., Dubnick, M., Polymeropoulos, M. H., Xiao, H., Merril, C. R., Wu, A., Olde, B., Moreno, R. F., Kerlavage, A. R., McCombie, W. R., Venter, J. C. Complementary DNA sequencing: expressed sequence tags and human genome project. Science 252: 1651-1656, 1991. [PubMed: 2047873] [Full Text: https://doi.org/10.1126/science.2047873]
Horii, A., Han, H.-J., Sasaki, S., Shimada, M., Nakamura, Y. Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. Biochem. Biophys. Res. Commun. 204: 1257-1264, 1994. [PubMed: 7980603] [Full Text: https://doi.org/10.1006/bbrc.1994.2598]
Liu, T., Yan, H., Kuismanen, S., Percesepe, A., Bisgaard, M.-L., Medroni, M., Benatti, P., Kinzler, K. W., Vogelstein, B., Ponz de Leon, M., Peltomaki, P., Lindblom, A. The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. Cancer Res. 61: 7798-7802, 2001. [PubMed: 11691795]
Nicolaides, N. C., Papadopoulos, N., Liu, B., Wei, Y.-F., Carter, K. C., Ruben, S. M., Rosen, C. A., Haseltine, W. A., Fleischmann, R. D., Fraser, C. M., Adams, M. D., Venter, J. C., Dunlop, M. G., Hamilton, S. R., Petersen, G. M., de la Chapelle, A., Vogelstein, B., Kinzler, K. W. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371: 75-80, 1994. [PubMed: 8072530] [Full Text: https://doi.org/10.1038/371075a0]
Papadopoulos, N., Nicolaides, N. C., Wei, Y.-F., Ruben, S. M., Carter, K. C., Rosen, C. A., Haseltine, W. A., Fleischmann, R. D., Fraser, C. M., Adams, M. D., Venter, J. C., Hamilton, S. R., Petersen, G. M., Watson, P., Lynch, H. T., Peltomaki, P., Mecklin, J.-P., de la Chapelle, A., Kinzler, K. W., Vogelstein, B. Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625-1629, 1994. [PubMed: 8128251] [Full Text: https://doi.org/10.1126/science.8128251]