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| IDENTIFICATION AND CHARACTERIZATION OF THE TUBEROUS SCLEROSIS GENE ON CHROMOSOME-16 |
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| Author(s): NELLIST M, JANSSEN B, BROOKCARTER PT, HESSELINGJANSSEN ALW, MAHESHWAR MM, VERHOEF S, VANDENOUWELAND AMW, LINDHOUT D, EUSSEN B, CORDEIRO I, SANTOS H, HALLEY DJJ, SAMPSON JR, WARD CJ, PERAL B, THOMAS S, HUGHES J, HARRIS PC, ROELFSEMA JH, SARIS JJ, SPRUIT L, PETERS DJM, DAUWERSE JG, BREUNING MH |
| Source: CELL Volume: 75 Issue: 7 Pages: 1305-1315 Published: DEC 31 1993 |
| Times Cited: 606 References: 60 |
| Abstract: Tuberous sclerosis (TSC) is an autosomal dominant multisystem disorder with loci assigned to chromosomes 9 and 16. Using pulsed-field gel electrophoresis (PFGE), we identified five TSC-associated deletions at 16p13.3. These were mapped to a 120 kb region that was cloned in cosmids and from which four genes were isolated. One gene, designated TSC2, was interrupted by all five PFGE deletions, and closer examination revealed several intragenic mutations, including one de novo deletion. In this case, Northern blot analysis identified a shortened transcript, while reduced expression was observed in another TSC family, confirming TSC2 as the chromosome 16 TSC gene. The 5.5 kb TSC2 transcript is widely expressed, and its protein product, tuberin, has a region of homology to the GTPase-activating protein GAP3. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM WALES
2. ERASMUS UNIV ROTTERDAM, DEPT CLIN GENET, 3015 GE ROTTERDAM, NETHERLANDS
3. HOSP SANTA MARIA, GENET UNIT, P-1699 LISBON, PORTUGAL
4. ERASMUS UNIV ROTTERDAM, HOSP DIJKZIGT, 3015 GE ROTTERDAM, NETHERLANDS
5. JOHN RADCLIFFE HOSP, INST MOLEC MED, MRC, MOLEC HAEMATOL UNIT, OXFORD OX3 9DU, ENGLAND
6. LEIDEN UNIV, INST HUMAN GENET, 2333 AL LEIDEN, NETHERLANDS |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: MP869 |
| ISSN: 0092-8674 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |