Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer

C. Eric Bronner, Sean M. Baker, Paul T. Morrison, Gwynedd Warren, Leslie G. Smith, Mary Kay Lescoe, Michael Kane, Christine Earabino, James Lipford, Annika Lindblom, Pia Tannergård, Roni J. Bollag, Alan R. Godwin, David C. Ward, Magnus Nordenskjøld, Richard Fishel, Richard Kolodner, R. Michael Liskay

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Abstract

THE human DNA mismatch repair gene homologue, hMSH2, on chromosome 2p is involved in hereditary non-polyposis colon cancer (HNPCC)1,2. 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, hMLHl (human MutL homologue), homologous to the bacterial DNA mismatch repair protein MutL, is located on human chromosome 3p21.3-23. We propose that hMLHl is the HNPCC gene located on 3p because of the similarity of the hMLHl gene product to the yeast DNA mismatch repair protein, MLH14,5, the coincident location of the hMLHl gene and the HNPCC locus on chromosome 3, and hMLHl missense mutations in affected individuals from a chromosome 3-linked HNPCC family.

Original languageEnglish (US)
Pages (from-to)258-261
Number of pages4
JournalNature
Volume368
Issue number6468
DOIs
Publication statusPublished - Jan 1 1994

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Bronner, C. E., Baker, S. M., Morrison, P. T., Warren, G., Smith, L. G., Lescoe, M. K., ... Liskay, R. M. (1994). Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer. Nature, 368(6468), 258-261. https://doi.org/10.1038/368258a0