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| A SINGLE ATAXIA-TELANGIECTASIA GENE WITH A PRODUCT SIMILAR TO PI-3 KINASE |
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| Author(s): SAVITSKY K, BARSHIRA A, GILAD S, ROTMAN G, ZIV Y, VANAGAITE L, TAGLE DA, SMITH S, UZIEL T, SFEZ S, ASHKENAZI M, PECKER I, FRYDMAN M, HARNIK R, PATANJALI SR, SIMMONS A, CLINES GA, SARTIEL A, GATTI RA, CHESSA L, SANAL O, LAVIN MF, JASPERS NGJ, MALCOLM A, TAYLOR R, ARLETT CF, MIKI T, WEISSMAN SM, LOVETT M, COLLINS FS, SHILOH Y |
| Source: SCIENCE Volume: 268 Issue: 5218 Pages: 1749-1753 Published: JUN 23 1995 |
| Times Cited: 1,568 References: 68 |
| Abstract: A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation sensitivity, and cell cycle abnormalities. The disease is genetically heterogeneous, with four complementation groups that have been suspected to represent different genes. ATM, which has a transcript of 12 kilobases, was found to be mutated in AT patients from all complementation groups, indicating that it is probably the sole gene responsible for this disorder. A partial ATM complementary DNA clone of 5.9 kilobases encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3' kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control. The discovery of ATM should enhance understanding of AT and related syndromes and may allow the identification of AT heterozygotes, who are at increased risk of cancer. |
| Document Type: Article |
| Language: English |
Addresses:
1. TEL AVIV UNIV, SACKLER SCH MED, DEPT HUMAN GENET, IL-69978 TEL AVIV, ISRAEL
2. NIH, NATL CTR HUMAN GENOME RES, BETHESDA, MD 20892 USA
3. CHAIM SHEBA MED CTR, INST HUMAN GENET, IL-52621 TEL HASHOMER, ISRAEL
4. YALE UNIV, SCH MED, BOYER CTR MOLEC MED, NEW HAVEN, CT 06536 USA
5. UNIV TEXAS, SW MED CTR, DEPT BIOCHEM, DALLAS, TX 75235 USA
6. UNIV TEXAS, SW MED CTR, MCDERMOTT CTR, DALLAS, TX 75235 USA
7. UNIV CALIF LOS ANGELES, SCH MED, DEPT PATHOL, LOS ANGELES, CA 90095 USA
8. UNIV ROMA LA SAPIENZA, DIPARTIMENTO MED SPERIMENTALE, I-00161 ROME, ITALY
9. HACETTEPE UNIV, FAC MED, DEPT PEDIAT, ANKARA 06100, TURKEY
10. QUEENSLAND INST MED RES, HERSTON, QLD 4006 AUSTRALIA
11. ERASMUS UNIV ROTTERDAM, DEPT CELL BIOL & GENET, 3000 DR ROTTERDAM, NETHERLANDS
12. UNIV BIRMINGHAM, CRC, INST CANC STUDIES, BIRMINGHAM B15 2TT, W MIDLANDS ENGLAND
13. NCI, CELLULAR & MOLEC BIOL LAB, BETHESDA, MD 20892 USA |
| Publisher: AMER ASSOC ADVAN SCIENCE, 1333 H ST NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: RE668 |
| ISSN: 0036-8075 |
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