Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer
摘要：
The human DNA mismatch repair gene homologue hMSH2, on chromosome 2p is involved in hereditary non-polyposis colon cancer (HNPCC). On the basis of linkage data, a second HNPCC locus was assigned to chromosome 3p21-23 (ref. 3). Here we report that a human gene encoding a protein, hMLH1 (human MutL homologue), homologous to the bacterial DNA mismatch repair protein MutL, is located on human chromosome 3p21.3-23. We propose that hMLH1 is the HNPCC gene located on 3p because of the similarity of the hMLH1 gene product to the yeast DNA mismatch repair protein, MLH1, the coincident location of the hMLH1 gene and the HNPCC locus on chromosome 3, and hMLH1 missense mutations in affected individuals from a chromosome 3-linked HNPCC family.
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关键词：
Cells, Cultured Hybrid Cells Chromosomes, Human, Pair 3 Animals Humans Rodentia Saccharomyces Colorectal Neoplasms, Hereditary Nonpolyposis Adaptor Proteins, Signal Transducing Carrier Proteins
DOI：
10.1038/368258a0
被引量：
年份：
1994
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万方医学
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