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 Jacob Bollag, Alan R. Godwin, David C. Ward, Magnus Nordenskjøld, Richard Fishel, Richard Kolodner, R. Michael Liskay

Research output: Contribution to journalArticle

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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
StatePublished - Jan 1 1994

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DNA Mismatch Repair
Colonic Neoplasms
Mutation
Genes
Chromosomes, Human, Pair 3
Chromosomes
Bacterial DNA
Information Storage and Retrieval
Neoplasm Genes
Human Chromosomes
Missense Mutation
MutL Proteins
Proteins
Yeasts

ASJC Scopus subject areas

  • General

Cite this

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

Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer. / Bronner, C. Eric; Baker, Sean M.; Morrison, Paul T.; Warren, Gwynedd; Smith, Leslie G.; Lescoe, Mary Kay; Kane, Michael; Earabino, Christine; Lipford, James; Lindblom, Annika; Tannergård, Pia; Bollag, Roni Jacob; Godwin, Alan R.; Ward, David C.; Nordenskjøld, Magnus; Fishel, Richard; Kolodner, Richard; Liskay, R. Michael.

In: Nature, Vol. 368, No. 6468, 01.01.1994, p. 258-261.

Research output: Contribution to journalArticle

Bronner, CE, Baker, SM, Morrison, PT, Warren, G, Smith, LG, Lescoe, MK, Kane, M, Earabino, C, Lipford, J, Lindblom, A, Tannergård, P, Bollag, RJ, Godwin, AR, Ward, DC, Nordenskjøld, M, Fishel, R, Kolodner, R & Liskay, RM 1994, 'Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer', Nature, vol. 368, no. 6468, pp. 258-261. https://doi.org/10.1038/368258a0
Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK et al. Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer. Nature. 1994 Jan 1;368(6468):258-261. https://doi.org/10.1038/368258a0
Bronner, C. Eric ; Baker, Sean M. ; Morrison, Paul T. ; Warren, Gwynedd ; Smith, Leslie G. ; Lescoe, Mary Kay ; Kane, Michael ; Earabino, Christine ; Lipford, James ; Lindblom, Annika ; Tannergård, Pia ; Bollag, Roni Jacob ; Godwin, Alan R. ; Ward, David C. ; Nordenskjøld, Magnus ; Fishel, Richard ; Kolodner, Richard ; Liskay, R. Michael. / Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer. In: Nature. 1994 ; Vol. 368, No. 6468. pp. 258-261.
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