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==References== | ==References== | ||
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==Further reading== | ==Further reading== | ||
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Revision as of 13:31, 6 September 2012
| PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | |||||||||||
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File:PBB Protein PMS2 image.jpg PDB rendering based on 1ea6. | |||||||||||
| Identifiers | |||||||||||
| Symbols | PMS2 ; HNPCC4; PMS2CL; PMSL2 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 450 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE PMS2 209805 at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
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PMS2 postmeiotic segregation increased 2 (S. cerevisiae), also known as PMS2, is a human gene.
This gene is one of the PMS2 gene family members which are found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. The protein forms a heterodimer with MLH1 and this complex interacts with MSH2 bound to mismatched bases. Defects in this gene are associated with hereditary nonpolyposis colorectal cancer, with a Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed.[1]
References
Further reading
- Kolodner RD, Marsischky GT (1999). "Eukaryotic DNA mismatch repair". Curr. Opin. Genet. Dev. 9 (1): 89–96. PMID 10072354.
- de Vos M, Hayward B, Bonthron DT, Sheridan E (2005). "Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes". Biochem. Soc. Trans. 33 (Pt 4): 718–20. doi:10.1042/BST0330718. PMID 16042583.
- Hamilton SR, Liu B, Parsons RE; et al. (1995). "The molecular basis of Turcot's syndrome". N. Engl. J. Med. 332 (13): 839–47. PMID 7661930.
- Nicolaides NC, Papadopoulos N, Liu B; et al. (1994). "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer". Nature. 371 (6492): 75–80. doi:10.1038/371075a0. PMID 8072530.
- Nicolaides NC, Carter KC, Shell BK; et al. (1996). "Genomic organization of the human PMS2 gene family". Genomics. 30 (2): 195–206. doi:10.1006/geno.1995.9885. PMID 8586419.
- Nicolaides NC, Kinzler KW, Vogelstein B (1996). "Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene". Genomics. 29 (2): 329–34. doi:10.1006/geno.1995.9997. PMID 8666379.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
- Meyers M, Theodosiou M, Acharya S; et al. (1997). "Cell cycle regulation of the human DNA mismatch repair genes hMSH2, hMLH1, and hPMS2". Cancer Res. 57 (2): 206–8. PMID 9000555.
- Miyaki M, Nishio J, Konishi M; et al. (1998). "Drastic genetic instability of tumors and normal tissues in Turcot syndrome". Oncogene. 15 (23): 2877–81. doi:10.1038/sj.onc.1201668. PMID 9419979.
- Guerrette S, Acharya S, Fishel R (1999). "The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer". J. Biol. Chem. 274 (10): 6336–41. PMID 10037723.
- Wang Q, Lasset C, Desseigne F; et al. (1999). "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. PMID 10480359.
- Matton N, Simonetti J, Williams K (2000). "Identification of mismatch repair protein complexes in HeLa nuclear extracts and their interaction with heteroduplex DNA". J. Biol. Chem. 275 (23): 17808–13. doi:10.1074/jbc.M909794199. PMID 10748159.
- De Rosa M, Fasano C, Panariello L; et al. (2000). "Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene". Oncogene. 19 (13): 1719–23. doi:10.1038/sj.onc.1203447. PMID 10763829.
- Wang Y, Cortez D, Yazdi P; et al. (2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes Dev. 14 (8): 927–39. PMID 10783165.
- Ceccotti S, Ciotta C, Fronza G; et al. (2000). "Multiple mutations and frameshifts are the hallmark of defective hPMS2 in pZ189-transfected human tumor cells". Nucleic Acids Res. 28 (13): 2577–84. PMID 10871409.
- Christmann M, Kaina B (2000). "Nuclear translocation of mismatch repair proteins MSH2 and MSH6 as a response of cells to alkylating agents". J. Biol. Chem. 275 (46): 36256–62. doi:10.1074/jbc.M005377200. PMID 10954713.
- Kondo E, Horii A, Fukushige S (2001). "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. PMID 11292842.
- Schmutte C, Sadoff MM, Shim KS; et al. (2001). "The interaction of DNA mismatch repair proteins with human exonuclease I.". J. Biol. Chem. 276 (35): 33011–8. doi:10.1074/jbc.M102670200. PMID 11427529.
- Jäger AC, Rasmussen M, Bisgaard HC; et al. (2001). "HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes". Oncogene. 20 (27): 3590–5. doi:10.1038/sj.onc.1204467. PMID 11429708.