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PMS1  -  PMS1 postmeiotic segregation increased 1...

Homo sapiens

Synonyms: DNA mismatch repair protein PMS1, HNPCC3, PMS1 protein homolog 1, PMSL1, hPMS1
 
 
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Disease relevance of PMS1

 

High impact information on PMS1

  • To better define the role of individual MMR genes in cancer susceptibility and MMR functions, we have generated mice deficient for the murine homologues of the human genes MLH1, PMS1 and PMS2 [5].
  • Both hPMS1 and hPMS2 were found to be mutated in the germline of HNPCC patients [6].
  • We identified two chromosomal regions each containing a PSGMS locus, one designated pms1 on chromosome 7 and one designated pms2 on chromosome 3 [7].
  • Conversion technology was used to detect a large hMSH2 deletion in two affected members of the kindred in which the hPMS1 mutation was originally reported, whereas the hPMS1 mutation was only present in one of these two individuals [8].
  • Since the hPMS1 and hPMS2 genes were first reported, germline mutations in hPMS2 have been demonstrated primarily in patients with Turcot's syndrome [8].
 

Biological context of PMS1

 

Anatomical context of PMS1

 

Regulatory relationships of PMS1

  • We now show that hPMS1 is expressed in human cells and that it interacts with hMLH1 with high affinity to form the heterodimer hMutLbeta [16].
 

Other interactions of PMS1

  • In an attempt to gain novel insights into the function of MMR proteins in human cells, we searched for interacting partners of the MutL homologues MLH1 and PMS2 by tandem affinity purification and of PMS1 by large scale immunoprecipitation [17].
  • Cox regression analysis demonstrated some prognostic significance for PMS1 (forward p = 0.0018 and backward selections p = 0.0277), MLH1 (only forward selection p = 0.0081) and MSH2 (only backward selection p = 0.0115) [18].
  • The DNA mismatch repair enzyme PMS1 is a myositis-specific autoantigen [4].
  • METHODS: We used immunoprecipitation analysis to determine the frequency of autoantibodies to PMS1 in sera from patients with myositis, systemic lupus erythematosus, or scleroderma and from healthy controls [4].
 

Analytical, diagnostic and therapeutic context of PMS1

References

  1. Defects of DNA mismatch repair in human prostate cancer. Chen, Y., Wang, J., Fraig, M.M., Metcalf, J., Turner, W.R., Bissada, N.K., Watson, D.K., Schweinfest, C.W. Cancer Res. (2001) [Pubmed]
  2. Lynch syndrome genes. Peltomäki, P. Fam. Cancer (2005) [Pubmed]
  3. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. Wang, Q., Lasset, C., Desseigne, F., Saurin, J.C., Maugard, C., Navarro, C., Ruano, E., Descos, L., Trillet-Lenoir, V., Bosset, J.F., Puisieux, A. Hum. Genet. (1999) [Pubmed]
  4. The DNA mismatch repair enzyme PMS1 is a myositis-specific autoantigen. Casciola-Rosen, L.A., Pluta, A.F., Plotz, P.H., Cox, A.E., Morris, S., Wigley, F.M., Petri, M., Gelber, A.C., Rosen, A. Arthritis Rheum. (2001) [Pubmed]
  5. Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. Prolla, T.A., Baker, S.M., Harris, A.C., Tsao, J.L., Yao, X., Bronner, C.E., Zheng, B., Gordon, M., Reneker, J., Arnheim, N., Shibata, D., Bradley, A., Liskay, R.M. Nat. Genet. (1998) [Pubmed]
  6. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. 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. Nature (1994) [Pubmed]
  7. Using bulked extremes and recessive class to map genes for photoperiod-sensitive genic male sterility in rice. Zhang, Q., Shen, B.Z., Dai, X.K., Mei, M.H., Saghai Maroof, M.A., Li, Z.B. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  8. The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. Liu, T., Yan, H., Kuismanen, S., Percesepe, A., Bisgaard, M.L., Pedroni, M., Benatti, P., Kinzler, K.W., Vogelstein, B., Ponz de Leon, M., Peltomäki, P., Lindblom, A. Cancer Res. (2001) [Pubmed]
  9. Clinical implications of advances in the molecular genetics of colorectal cancer. Lynch, H.T., Lynch, J.F. Tumori. (1995) [Pubmed]
  10. ATM-mediated stabilization of hMutL DNA mismatch repair proteins augments p53 activation during DNA damage. Luo, Y., Lin, F.T., Lin, W.C. Mol. Cell. Biol. (2004) [Pubmed]
  11. Loss of mismatch repair activity in simian virus 40 large T antigen-immortalized BPH-1 human prostatic epithelial cell line. Yeh, C.C., Lee, C., Huang, M.C., Dahiya, R. Mol. Carcinog. (2001) [Pubmed]
  12. Mismatch repair gene expression in malignant lymphoproliferative disorders of B-cell origin. Kotoula, V., Hytiroglou, P., Kaloutsi, V., Barbanis, S., Kouidou, S., Papadimitriou, C.S. Leuk. Lymphoma (2002) [Pubmed]
  13. Reduced expression of mismatch repair genes measured by multiplex reverse transcription-polymerase chain reaction in human gliomas. Wei, Q., Bondy, M.L., Mao, L., Gaun, Y., Cheng, L., Cunningham, J., Fan, Y., Bruner, J.M., Yung, W.K., Levin, V.A., Kyritsis, A.P. Cancer Res. (1997) [Pubmed]
  14. Identification of a second MutL DNA mismatch repair complex (hPMS1 and hMLH1) in human epithelial cells. Leung, W.K., Kim, J.J., Wu, L., Sepulveda, J.L., Sepulveda, A.R. J. Biol. Chem. (2000) [Pubmed]
  15. Immune responses to DNA mismatch repair enzymes hMSH2 and hPMS1 in patients with pancreatic cancer, dermatomyositis and polymyositis. Okada, T., Noji, S., Goto, Y., Iwata, T., Fujita, T., Okada, T., Matsuzaki, Y., Kuwana, M., Hirakata, M., Horii, A., Matsuno, S., Sunamura, M., Kawakami, Y. Int. J. Cancer (2005) [Pubmed]
  16. Identification of hMutLbeta, a heterodimer of hMLH1 and hPMS1. Räschle, M., Marra, G., Nyström-Lahti, M., Schär, P., Jiricny, J. J. Biol. Chem. (1999) [Pubmed]
  17. Characterization of the Interactome of the Human MutL Homologues MLH1, PMS1, and PMS2. Cannavo, E., Gerrits, B., Marra, G., Schlapbach, R., Jiricny, J. J. Biol. Chem. (2007) [Pubmed]
  18. Analysis of the DNA mismatch repair proteins expression in malignant melanomas. Korabiowska, M., Brinck, U., Dengler, H., Stachura, J., Schauer, A., Droese, M. Anticancer Res. (2000) [Pubmed]
  19. Assignment of the human postmeiotic segregation increased (S. cerevisiae) 1 (PMS1) to chromosome 2q31.1 by radiation hybrid mapping. Alvarez Soria, M.A., Justesen, J., Hansen, L.L. Cytogenet. Cell Genet. (2000) [Pubmed]
  20. Reduced expression of human mismatch repair genes in adult T-cell leukemia. Morimoto, H., Tsukada, J., Kominato, Y., Tanaka, Y. Am. J. Hematol. (2005) [Pubmed]
 
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