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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-03

AUTHORS

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 Nordenskj⊘ld, Richard Fishel, Richard Kolodner, R. Michael Liskay

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. More... »

PAGES

258-261

Journal

TITLE

Nature

ISSUE

6468

VOLUME

368

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/368258a0

    DOI

    http://dx.doi.org/10.1038/368258a0

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1040515741

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8145827


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