MSH2

From Wikipedia, the free encyclopedia

MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)

PDB rendering based on 2o8b.

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

Identifiers

Symbol(s)

MSH2; HNPCC; COCA1; FCC1; HNPCC1

External IDs

OMIM: 609309 MGI: 101816 HomoloGene: 210

Gene ontology
Molecular Function:	• nucleotide binding • four-way junction DNA binding • damaged DNA binding • single-stranded DNA binding • hypoxanthine phosphoribosyltransferase activity • ATP binding • magnesium-importing ATPase activity • ATPase activity • centromeric DNA binding • guanine/thymine mispair binding • single guanine insertion binding • single thymine insertion binding • dinucleotide repeat insertion binding • oxidized purine DNA binding • MutLalpha complex binding • protein homodimerization activity • ADP binding • DNA end binding
Cellular Component:	• nucleus • MutSalpha complex • MutSbeta complex
Biological Process:	• in utero embryonic development • oxidative phosphorylation • purine nucleotide biosynthetic process • DNA metabolic process • base-excision repair • mismatch repair • postreplication repair • apoptosis • cell motility • cell cycle • cell cycle arrest • determination of adult life span • response to X-ray • response to UV-B • somatic hypermutation of immunoglobulin genes • somatic recombination of immunoglobulin gene segments • B cell mediated immunity • B cell differentiation • intra-S DNA damage checkpoint • response to magnesium ion • negative regulation of neuron apoptosis • maintenance of DNA repeat elements • isotype switching • negative regulation of DNA recombination

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000251 (mRNA)
NP_000242 (protein)

NM_008628 (mRNA)
NP_032654 (protein)

Location

Chr 2: 47.48 - 47.56 Mb

Chr 17: 87.58 - 87.63 Mb

Pubmed search

[1]

[2]

MSH2 is a gene commonly associated with Hereditary nonpolyposis colorectal cancer.

MSH2 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC.^[1]

1 References
2 Further reading
3 See also
4 External links

[edit] References

^ Entrez Gene: MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli).

[edit] Further reading

Jiricny J (1994). "Colon cancer and DNA repair: have mismatches met their match?". Trends Genet. 10 (5): 164–8. PMID 8036718.
Fishel R, Wilson T (1997). "MutS homologs in mammalian cells.". Curr. Opin. Genet. Dev. 7 (1): 105–13. PMID 9024626.
Lothe RA (1997). "Microsatellite instability in human solid tumors.". Molecular medicine today 3 (2): 61–8. PMID 9060003.
Peltomäki P, de la Chapelle A (1997). "Mutations predisposing to hereditary nonpolyposis colorectal cancer.". Adv. Cancer Res. 71: 93–119. PMID 9111864.
Papadopoulos N, Lindblom A (1997). "Molecular basis of HNPCC: mutations of MMR genes.". Hum. Mutat. 10 (2): 89–99. doi:10.1002/(SICI)1098-1004(1997)10:2<89::AID-HUMU1>3.0.CO;2-H. PMID 9259192.
Kauh J, Umbreit J (2004). "Colorectal cancer prevention.". Current problems in cancer 28 (5): 240–64. PMID 15375803.
Warusavitarne J, Schnitzler M (2007). "The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer.". International journal of colorectal disease 22 (7): 739–48. doi:10.1007/s00384-006-0228-0. PMID 17109103.
Wei Q, Xu X, Cheng L, et al. (1995). "Simultaneous amplification of four DNA repair genes and beta-actin in human lymphocytes by multiplex reverse transcriptase-PCR.". Cancer Res. 55 (21): 5025–9. PMID 7585546.
Wilson TM, Ewel A, Duguid JR, et al. (1995). "Differential cellular expression of the human MSH2 repair enzyme in small and large intestine.". Cancer Res. 55 (22): 5146–50. PMID 7585562.
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.
Kolodner RD, Hall NR, Lipford J, et al. (1995). "Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.". Genomics 24 (3): 516–26. PMID 7713503.
Wijnen J, Vasen H, Khan PM, et al. (1995). "Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.". Am. J. Hum. Genet. 56 (5): 1060–6. PMID 7726159.
Mary JL, Bishop T, Kolodner R, et al. (1995). "Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.". Hum. Mol. Genet. 3 (11): 2067–9. PMID 7874129.
Fishel R, Ewel A, Lescoe MK (1994). "Purified human MSH2 protein binds to DNA containing mismatched nucleotides.". Cancer Res. 54 (21): 5539–42. PMID 7923193.
Fishel R, Ewel A, Lee S, et al. (1994). "Binding of mismatched microsatellite DNA sequences by the human MSH2 protein.". Science 266 (5189): 1403–5. PMID 7973733.
Liu B, Parsons RE, Hamilton SR, et al. (1994). "hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.". Cancer Res. 54 (17): 4590–4. PMID 8062247.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
Fishel R, Lescoe MK, Rao MR, et al. (1994). "The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.". Cell 77 (1): 167. PMID 8156592.
Fishel R, Lescoe MK, Rao MR, et al. (1994). "The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.". Cell 75 (5): 1027–38. PMID 8252616.