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| Meiotic pachytene arrest in MLH1-deficient mice |
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| Author(s): Edelmann W, Cohen PE, Kane M, Lau K, Morrow B, Bennett S, Umar A, Kunkel T, Cattoretti G, Chaganti R, Pollard JW, Kolodner RD, Kucherlapati R |
| Source: CELL Volume: 85 Issue: 7 Pages: 1125-1134 Published: JUN 28 1996 |
| Times Cited: 321 References: 58 |
| Abstract: Germ line mutations in DNA mismatch repair genes including MLH1 cause hereditary nonpolyposis colon cancer. To understand the role of MLH1 in normal growth and development, we generated mice that have a null mutation of this gene. Mice homozygous for this mutation show a replication error phenotype, and extracts of these cells are deficient in mismatch repair activity. Homozygous mutant males show normal mating behavior but have no detectable mature sperm. Examination of meiosis in these males reveals that the cells enter meiotic prophase and arrest at pachytene. Homozygous mutant females have normal estrous cycles and reproductive and mating behavior but are infertile. The phenotypes of the mlh1 mutant mice are distinct from those deficient in msh2 and pms2. The different phenotypes of the three types of mutant mice suggest that these three genes may have independent functions in mammalian meiosis. |
| Document Type: Article |
| Language: English |
| Reprint Address: Edelmann, W (reprint author), ALBERT EINSTEIN COLL MED, DEPT MOLEC GENET, BRONX, NY 10467 USA |
Addresses:
1. ALBERT EINSTEIN COLL MED, DEPT DEV & MOL BIOL, BRONX, NY 10467 USA
2. DANA FARBER CANC INST, BOSTON, MA 02115 USA
3. NIEHS, RES TRIANGLE PK, NC 27709 USA
4. COLUMBIA UNIV, COLL PHYS & SURG, DEPT PATHOL, NEW YORK, NY USA
5. MEM SLOAN KETTERING CANC CTR, DEPT GENET, NEW YORK, NY 10021 USA |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: UV484 |
| ISSN: 0092-8674 |
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