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MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
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| PDB rendering based on 2o8b. The Protein Data Bank ( PDB) is a repository for 3-D structural data of Proteins and Nucleic acids These data typically obtained by X-ray crystallography | ||
| Available structures: 2o8b, 2o8c, 2o8d, 2o8e, 2o8f | ||
| Identifiers | ||
| Symbol(s) | MSH2; HNPCC; COCA1; FCC1; HNPCC1 | |
| External IDs | OMIM: 609309 MGI: 101816 HomoloGene: 210 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 4436 | 17685 |
| Ensembl | ENSG00000095002 | ENSMUSG00000024151 |
| Uniprot | P43246 | Q3TZI5 |
| 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. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance Hereditary nonpolyposis colorectal cancer (HNPCC also known as Lynch syndrome, is characterised by a risk of Colorectal cancer and other cancers of the endometrium
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]
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References
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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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.
See also
External links
DNA mismatch repair is a system for recognising and repairing erroneous insertion deletion and mis-incorporation of bases that can arise during DNA replication and recombination Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and booksDapyx Software network: MP3 Explorer | Ebook Manager | Zenithic