The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
- PMID: 8252616
- DOI: 10.1016/0092-8674(93)90546-3
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
Erratum in
-
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.Cell. 1994 Apr 8;77(1):1 p following 166. Cell. 1994. PMID: 8156592 No abstract available.
Abstract
We have identified a human homolog of the bacterial MutS and S. cerevisiae MSH proteins, called hMSH2. Expression of hMSH2 in E. coli causes a dominant mutator phenotype, suggesting that hMSH2, like other divergent MutS homologs, interferes with the normal bacterial mismatch repair pathway. hMSH2 maps to human chromosome 2p22-21 near a locus implicated in hereditary nonpolyposis colon cancer (HNPCC). A T to C transition mutation has been detected in the -6 position of a splice acceptor site in sporadic colon tumors and in affected individuals of two small HNPCC kindreds. These data and reports indicating that S. cerevisiae msh2 mutations cause an instability of dinucleotide repeats like those associated with HNPCC suggest that hMSH2 is the HNPCC gene.
Similar articles
-
Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene.Cancer Res. 2002 Jan 1;62(1):38-42. Cancer Res. 2002. PMID: 11782355
-
MutS homologs in mammalian cells.Curr Opin Genet Dev. 1997 Feb;7(1):105-13. doi: 10.1016/s0959-437x(97)80117-7. Curr Opin Genet Dev. 1997. PMID: 9024626 Review.
-
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.Cell. 1993 Dec 17;75(6):1215-25. doi: 10.1016/0092-8674(93)90330-s. Cell. 1993. PMID: 8261515
-
Colon cancer and DNA repair: have mismatches met their match?Trends Genet. 1994 May;10(5):164-8. doi: 10.1016/0168-9525(94)90093-0. Trends Genet. 1994. PMID: 8036718 Review.
-
Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.Genomics. 1994 Dec;24(3):516-26. doi: 10.1006/geno.1994.1661. Genomics. 1994. PMID: 7713503
Cited by
-
Pathological Features of Colorectal Adenocarcinoma Patients Related to MLH1.Cell Mol Bioeng. 2024 Feb 20;17(2):153-164. doi: 10.1007/s12195-024-00797-z. eCollection 2024 Apr. Cell Mol Bioeng. 2024. PMID: 38737450
-
The Natural History of Hereditary Colorectal Cancer Syndromes: From Phenotype to Genotype? Where Do We Stand and What Does the Future Hold?Clin Colon Rectal Surg. 2023 Aug 9;37(3):127-132. doi: 10.1055/s-0043-1770380. eCollection 2024 May. Clin Colon Rectal Surg. 2023. PMID: 38606050 Review.
-
Lynch Syndrome: From Multidisciplinary Management to Precision Prevention.Cancers (Basel). 2024 Feb 20;16(5):849. doi: 10.3390/cancers16050849. Cancers (Basel). 2024. PMID: 38473212 Free PMC article. Review.
-
Gastric and duodenal cancer in individuals with Lynch syndrome: a nationwide cohort study.EClinicalMedicine. 2024 Feb 19;69:102494. doi: 10.1016/j.eclinm.2024.102494. eCollection 2024 Mar. EClinicalMedicine. 2024. PMID: 38404296 Free PMC article.
-
TREX2 deficiency suppresses spontaneous and genotoxin-associated mutagenesis.Cell Rep. 2024 Jan 23;43(1):113637. doi: 10.1016/j.celrep.2023.113637. Epub 2024 Jan 3. Cell Rep. 2024. PMID: 38175749 Free PMC article.
Publication types
MeSH terms
Substances
Associated data
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases
Research Materials