PMS1 explained

PMS1 protein homolog 1 is a protein that in humans is encoded by the PMS1 gene.^{[1] [2]}

Function

The protein encoded by this gene was identified by its homology to a yeast protein involved in DNA mismatch repair. A role for this protein in mismatch repair has not been proven. However, the protein forms heterodimers with MLH1, a DNA mismatch repair protein, and some cases of hereditary nonpolyposis colorectal cancer have been found to have mutations in this gene.

Yeast studies

In the yeast Saccharomyces cerevisiae, the MSH2, MLH1 and PMS1 proteins are required for repair of DNA base pair mismatches, thus contributing to mutation avoidance.^[3] The MLH1 and PMS1 proteins physically associate, likely forming a heterodimer which then interacts with the MSH2 protein to form a ternary complex that acts in the initiation of DNA mismatch repair.^[3] The nucleotide sequence of the PMS1 gene from S. cerevisiae has a 2,712-base pair open reading frame and a predicted molecular mass of 103 kilodaltons.^[4] The deduced amino acid sequence encoded by the PMS1 gene of S. cerevisiae exhibits homology to the sequences of the mutL gene of the bacteria Salmonella typimurium and the hexB gene of the bacteria Streptococcus pneumoniae, and these two genes are also required for DNA mismatch repair in their respective organisms.^[4]

Further reading

• Kolodner R . Biochemistry and genetics of eukaryotic mismatch repair . Genes Dev. . 10 . 12 . 1433–42 . 1996 . 8666228 . 10.1101/gad.10.12.1433 . free .
• Horii A, Han HJ, 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 . 3 . 1257–64 . 1994 . 7980603 . 10.1006/bbrc.1994.2598 .
• Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD . Mutation of a mutL homolog in hereditary colon cancer . Science . 263 . 5153 . 1625–9 . 1994 . 8128251 . 10.1126/science.8128251 . 1994Sci...263.1625P .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Yanagisawa Y, Ito E, Iwahashi Y, Akiyama Y, Yuasa Y, Maruyama K . Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1 . Biochem. Biophys. Res. Commun. . 243 . 3 . 738–43 . 1998 . 9500994 . 10.1006/bbrc.1998.8165 .
• Korabiowska M, Brinck U, Ruschenburg I, Dengler H, Droese M, Berger H . Expression of DNA mismatch repair genes in naevi . In Vivo . 13 . 3 . 251–4 . 1999 . 10459502 .
• Wang Q, Lasset C, Desseigne F, Saurin JC, Maugard C, Navarro C, Ruano E, Descos L, Trillet-Lenoir V, Bosset JF, Puisieux A . Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer . Hum. Genet. . 105 . 1–2 . 79–85 . 1999 . 10480359 . 10.1007/s004399900064 .
• Matton N, Simonetti J, Williams K . Identification of mismatch repair protein complexes in HeLa nuclear extracts and their interaction with heteroduplex DNA . J. Biol. Chem. . 275 . 23 . 17808–13 . 2000 . 10748159 . 10.1074/jbc.M909794199 . free .
• Alvarez Soria MA, Justesen J, Hansen LL . Assignment of the human postmeiotic segregation increased (S. cerevisiae) 1 (PMS1) to chromosome 2q31.1 by radiation hybrid mapping . Cytogenet. Cell Genet. . 88 . 3–4 . 200–1 . 2000 . 10828585 . 10.1159/000015546 . 84779733 .
• Kondo E, Horii A, Fukushige S . The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2 . Nucleic Acids Res. . 29 . 8 . 1695–702 . 2001 . 11292842 . 31313 . 10.1093/nar/29.8.1695 .
• Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S . hMutSα forms an ATP-dependent complex with hMutLα and hMutLβ on DNA . Nucleic Acids Res. . 30 . 3 . 711–8 . 2002 . 11809883 . 100294 . 10.1093/nar/30.3.711 .
• Kotoula V, Hytiroglou P, Kaloutsi V, Barbanis S, Kouidou S, Papadimitriou CS . Mismatch repair gene expression in malignant lymphoproliferative disorders of B-cell origin . Leuk. Lymphoma . 43 . 2 . 393–9 . 2003 . 11999575 . 10.1080/10428190290006215 . 19755282 .
• Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S . N-terminus of hMLH1 confers interaction of hMutLα and hMutLβ with hMutSα . Nucleic Acids Res. . 31 . 12 . 3217–26 . 2003 . 12799449 . 162253 . 10.1093/nar/gkg420 .
• Luo Y, Lin FT, Lin WC . ATM-Mediated Stabilization of hMutL DNA Mismatch Repair Proteins Augments p53 Activation during DNA Damage . Mol. Cell. Biol. . 24 . 14 . 6430–44 . 2004 . 15226443 . 434232 . 10.1128/MCB.24.14.6430-6444.2004 .
• 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 . Immune responses to DNA mismatch repair enzymes hMSH2 and hPMS1 in patients with pancreatic cancer, dermatomyositis and polymyositis . Int. J. Cancer . 116 . 6 . 925–33 . 2005 . 15856462 . 10.1002/ijc.21118 . 880049 . free .
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• Cannavo E, Gerrits B, Marra G, Schlapbach R, Jiricny J . Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2 . J. Biol. Chem. . 282 . 5 . 2976–86 . 2007 . 17148452 . 10.1074/jbc.M609989200 . 25279332 . free .

Notes and References

1. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM . Mutations of two PMS homologues in hereditary nonpolyposis colon cancer . Nature . 371 . 6492 . 75–80 . Sep 1994 . 8072530 . 10.1038/371075a0 . 1994Natur.371...75N . 4244907 .
2. Web site: Entrez Gene: PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae).
3. Prolla TA, Pang Q, Alani E, Kolodner RD, Liskay RM . MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast . Science . 265 . 5175 . 1091–3 . August 1994 . 8066446 . 10.1126/science.8066446 .
4. Kramer W, Kramer B, Williamson MS, Fogel S . Cloning and nucleotide sequence of DNA mismatch repair gene PMS1 from Saccharomyces cerevisiae: homology of PMS1 to procaryotic MutL and HexB . J Bacteriol . 171 . 10 . 5339–46 . October 1989 . 2676974 . 210371 . 10.1128/jb.171.10.5339-5346.1989 .