- PMS2
PMS2 postmeiotic segregation increased 2 (S. cerevisiae), also known as PMS2, is a human
gene .PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5395| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Kolodner RD, Marsischky GT |title=Eukaryotic DNA mismatch repair. |journal=Curr. Opin. Genet. Dev. |volume=9 |issue= 1 |pages= 89–96 |year= 1999 |pmid= 10072354 |doi=
*cite journal | author=de Vos M, Hayward B, Bonthron DT, Sheridan E |title=Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes. |journal=Biochem. Soc. Trans. |volume=33 |issue= Pt 4 |pages= 718–20 |year= 2005 |pmid= 16042583 |doi= 10.1042/BST0330718
*cite journal | author=Hamilton SR, Liu B, Parsons RE, "et al." |title=The molecular basis of Turcot's syndrome. |journal=N. Engl. J. Med. |volume=332 |issue= 13 |pages= 839–47 |year= 1995 |pmid= 7661930 |doi=
*cite journal | author=Nicolaides NC, Papadopoulos N, Liu B, "et al." |title=Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. |journal=Nature |volume=371 |issue= 6492 |pages= 75–80 |year= 1994 |pmid= 8072530 |doi= 10.1038/371075a0
*cite journal | author=Nicolaides NC, Carter KC, Shell BK, "et al." |title=Genomic organization of the human PMS2 gene family. |journal=Genomics |volume=30 |issue= 2 |pages= 195–206 |year= 1996 |pmid= 8586419 |doi= 10.1006/geno.1995.9885
*cite journal | author=Nicolaides NC, Kinzler KW, Vogelstein B |title=Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene. |journal=Genomics |volume=29 |issue= 2 |pages= 329–34 |year= 1996 |pmid= 8666379 |doi= 10.1006/geno.1995.9997
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Meyers M, Theodosiou M, Acharya S, "et al." |title=Cell cycle regulation of the human DNA mismatch repair genes hMSH2, hMLH1, and hPMS2. |journal=Cancer Res. |volume=57 |issue= 2 |pages= 206–8 |year= 1997 |pmid= 9000555 |doi=
*cite journal | author=Miyaki M, Nishio J, Konishi M, "et al." |title=Drastic genetic instability of tumors and normal tissues in Turcot syndrome. |journal=Oncogene |volume=15 |issue= 23 |pages= 2877–81 |year= 1998 |pmid= 9419979 |doi= 10.1038/sj.onc.1201668
*cite journal | author=Guerrette S, Acharya S, Fishel R |title=The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. |journal=J. Biol. Chem. |volume=274 |issue= 10 |pages= 6336–41 |year= 1999 |pmid= 10037723 |doi=
*cite journal | author=Wang Q, Lasset C, Desseigne F, "et al." |title=Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. |journal=Hum. Genet. |volume=105 |issue= 1-2 |pages= 79–85 |year= 1999 |pmid= 10480359 |doi=
*cite journal | author=Matton N, Simonetti J, Williams K |title=Identification of mismatch repair protein complexes in HeLa nuclear extracts and their interaction with heteroduplex DNA. |journal=J. Biol. Chem. |volume=275 |issue= 23 |pages= 17808–13 |year= 2000 |pmid= 10748159 |doi= 10.1074/jbc.M909794199
*cite journal | author=De Rosa M, Fasano C, Panariello L, "et al." |title=Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. |journal=Oncogene |volume=19 |issue= 13 |pages= 1719–23 |year= 2000 |pmid= 10763829 |doi= 10.1038/sj.onc.1203447
*cite journal | author=Wang Y, Cortez D, Yazdi P, "et al." |title=BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. |journal=Genes Dev. |volume=14 |issue= 8 |pages= 927–39 |year= 2000 |pmid= 10783165 |doi=
*cite journal | author=Ceccotti S, Ciotta C, Fronza G, "et al." |title=Multiple mutations and frameshifts are the hallmark of defective hPMS2 in pZ189-transfected human tumor cells. |journal=Nucleic Acids Res. |volume=28 |issue= 13 |pages= 2577–84 |year= 2000 |pmid= 10871409 |doi=
*cite journal | author=Christmann M, Kaina B |title=Nuclear translocation of mismatch repair proteins MSH2 and MSH6 as a response of cells to alkylating agents. |journal=J. Biol. Chem. |volume=275 |issue= 46 |pages= 36256–62 |year= 2000 |pmid= 10954713 |doi= 10.1074/jbc.M005377200
*cite journal | author=Kondo E, Horii A, Fukushige S |title=The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2. |journal=Nucleic Acids Res. |volume=29 |issue= 8 |pages= 1695–702 |year= 2001 |pmid= 11292842 |doi=
*cite journal | author=Schmutte C, Sadoff MM, Shim KS, "et al." |title=The interaction of DNA mismatch repair proteins with human exonuclease I. |journal=J. Biol. Chem. |volume=276 |issue= 35 |pages= 33011–8 |year= 2001 |pmid= 11427529 |doi= 10.1074/jbc.M102670200
*cite journal | author=Jäger AC, Rasmussen M, Bisgaard HC, "et al." |title=HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes. |journal=Oncogene |volume=20 |issue= 27 |pages= 3590–5 |year= 2001 |pmid= 11429708 |doi= 10.1038/sj.onc.1204467PBB_Controls
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