MSH6

From Wikipedia, the free encyclopedia

MutS homolog 6 (E. coli)

PDB rendering based on 2gfu.

Available structures: 2gfu, 2o8b, 2o8c, 2o8d, 2o8e, 2o8f

Identifiers

Symbol(s)

MSH6; GTBP; HNPCC5; HSAP

External IDs

OMIM: 600678 MGI: 1343961 HomoloGene: 149

Gene ontology
Molecular Function:	• nucleotide binding • four-way junction DNA binding • purine-specific mismatch base pair DNA N-glycosylase activity • damaged DNA binding • protein binding • ATP binding • magnesium-importing ATPase activity • guanine/thymine mispair binding • dinucleotide insertion or deletion binding • single guanine insertion binding • single thymine insertion binding • oxidized purine DNA binding • MutLalpha complex binding • protein homodimerization activity • ADP binding • DNA end binding
Cellular Component:	• nucleus • MutSalpha complex
Biological Process:	• base-excision repair • mismatch repair • determination of adult life span • induction of apoptosis by intracellular signals • response to UV • somatic hypermutation of immunoglobulin genes • somatic recombination of immunoglobulin gene segments • response to magnesium ion • negative regulation of DNA recombination

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000179 (mRNA)
NP_000170 (protein)

NM_010830 (mRNA)
NP_034960 (protein)

Location

Chr 2: 47.86 - 47.89 Mb

Chr 17: 87.88 - 87.9 Mb

Pubmed search

[1]

[2]

MSH6 is a gene commonly associated with hereditary nonpolyposis colorectal cancer.

[edit] See also

Mismatch_repair#MutS

[edit] External links

MeSH MSH6+protein,+human

[edit] Further reading

Drummond JT, Li GM, Longley MJ, Modrich P (1995). "Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells.". Science 268 (5219): 1909–12. PMID 7604264.
Palombo F, Gallinari P, Iaccarino I, et al. (1995). "GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells.". Science 268 (5219): 1912–4. PMID 7604265.
Papadopoulos N, Nicolaides NC, Liu B, et al. (1995). "Mutations of GTBP in genetically unstable cells.". Science 268 (5219): 1915–7. PMID 7604266.
Risinger JI, Umar A, Boyd J, et al. (1996). "Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair.". Nat. Genet. 14 (1): 102–5. doi:10.1038/ng0996-102. PMID 8782829.
Nicolaides NC, Palombo F, Kinzler KW, et al. (1997). "Molecular cloning of the N-terminus of GTBP.". Genomics 31 (3): 395–7. doi:10.1006/geno.1996.0067. PMID 8838326.
Acharya S, Wilson T, Gradia S, et al. (1997). "hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6.". Proc. Natl. Acad. Sci. U.S.A. 93 (24): 13629–34. PMID 8942985.
Miyaki M, Konishi M, Tanaka K, et al. (1997). "Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.". Nat. Genet. 17 (3): 271–2. doi:10.1038/ng1197-271. PMID 9354786.
Yin J, Kong D, Wang S, et al. (1998). "Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomas.". Hum. Mutat. 10 (6): 474–8. doi:10.1002/(SICI)1098-1004(1997)10:6<474::AID-HUMU9>3.0.CO;2-D. PMID 9401011.
Gradia S, Acharya S, Fishel R (1998). "The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch.". Cell 91 (7): 995–1005. PMID 9428522.
Shiwaku HO, Wakatsuki S, Mori Y, et al. (1998). "Alternative splicing of GTBP in normal human tissues.". DNA Res. 4 (5): 359–62. PMID 9455487.
Wei Q, Guan Y, Cheng L, et al. (1998). "Expression of five selected human mismatch repair genes simultaneously detected in normal and cancer cell lines by a nonradioactive multiplex reverse transcription-polymerase chain reaction.". Pathobiology 65 (6): 293–300. PMID 9491849.
Guerrette S, Wilson T, Gradia S, Fishel R (1998). "Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer.". Mol. Cell. Biol. 18 (11): 6616–23. PMID 9774676.
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.
Wijnen J, de Leeuw W, Vasen H, et al. (1999). "Familial endometrial cancer in female carriers of MSH6 germline mutations.". Nat. Genet. 23 (2): 142–4. doi:10.1038/13773. PMID 10508506.
Wu Y, Berends MJ, Mensink RG, et al. (1999). "Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.". Am. J. Hum. Genet. 65 (5): 1291–8. PMID 10521294.
Kolodner RD, Tytell JD, Schmeits JL, et al. (1999). "Germ-line msh6 mutations in colorectal cancer families.". Cancer Res. 59 (20): 5068–74. PMID 10537275.
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.
Clark AB, Valle F, Drotschmann K, et al. (2001). "Functional interaction of proliferating cell nuclear antigen with MSH2-MSH6 and MSH2-MSH3 complexes.". J. Biol. Chem. 275 (47): 36498–501. doi:10.1074/jbc.C000513200. PMID 11005803.