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| MUTATION IN THE DNA MISMATCH REPAIR GENE HOMOLOG HMLH1 IS ASSOCIATED WITH HEREDITARY NONPOLYPOSIS COLON-CANCER |
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| Author(s): BRONNER CE, BAKER SM, MORRISON PT, WARREN G, SMITH LG, LESCOE MK, KANE M, EARABINO C, LIPFORD J, LINDBLOM A, TANNERGARD P, BOLLAG RJ, GODWIN AR, WARD DC, NORDENSKJOLD M, FISHEL R, KOLODNER R, LISKAY RM |
| Source: NATURE Volume: 368 Issue: 6468 Pages: 258-261 Published: MAR 17 1994 |
| Times Cited: 1,505 References: 30 |
| 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, 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(4,5), 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. OREGON HLTH SCI UNIV, DEPT MOLEC & MED GENET, PORTLAND, OR 97201 USA
2. DANA FARBER CANC INST, MOLEC BIOL CORE FACIL, BOSTON, MA 02115 USA
3. YALE UNIV, SCH MED, DEPT GENET, NEW HAVEN, CT 06510 USA
4. YALE UNIV, SCH MED, DEPT MOLEC BIOPHYS & BIOCHEM, NEW HAVEN, CT 06510 USA
5. UNIV VERMONT, MARKEY CTR MOLEC GENET, DEPT MICROBIOL & MOLEC GENET, BURLINGTON, VT 05405 USA
6. HARVARD UNIV, SCH MED, DANA FARBER CANC INST, DIV CELLULAR & MOLEC BIOL, BOSTON, MA 02115 USA
7. HARVARD UNIV, SCH MED, DEPT BIOL CHEM & MOLEC PHARMACOL, BOSTON, MA 02115 USA
8. KAROLINSKA HOSP, DEPT MOLEC MED, S-17176 STOCKHOLM, SWEDEN |
| Publisher: MACMILLAN MAGAZINES LTD, PORTERS SOUTH, 4 CRINAN ST, LONDON, ENGLAND N1 9XW |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: NA870 |
| ISSN: 0028-0836 |
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