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| Isolation and characterization of a rat homologue of the human tuberous sclerosis 1 gene (Tsc1) and analysis of its mutations in rat renal carcinomas |
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| Author(s): Satake N, Kobayashi T, Kobayashi E, Izumi K, Hino O |
| Source: CANCER RESEARCH Volume: 59 Issue: 4 Pages: 849-855 Published: FEB 15 1999 |
| Times Cited: 17 References: 33 |
| Abstract: In the Eker rat, a germ-line mutation in the homologue of the human tuberous sclerosis gene (Tsc2) causes renal cell carcinomas (RCs) with a complete penetrance in all heterozygotes, Tsc2 mutations have also been found in a subset of chemically induced non-Eker rat RCs, Because tuberous sclerosis patients with alteration of either of the two predisposing genes (TSC1 and TSC2) show identical symptoms, the products of these two genes are thought to be involved in a common biological pathway. In this study, to analyze the possible overlap between the functions of Tsc2 and Tsc1 gene products, we isolated and characterized a rat homologue of the TSC1 gene (Tsc1), The rat Tsc1 gene, which has an identical exon-intron structure to that of human TSC1 and is localized on rat chromosome 3, has been shown to encode a protein (hamartin) that is highly homologous to the human counterpart with an similar to 86% amino acid sequence identity. Using PCR-single-strand conformational polymorphism analysis, we identified two splicing donor site mutations in one chemically induced rat RC (1 of 15). This suggests that alterations of the Tsc1 gene may be involved in the development of a subset of rat RCs. |
| Document Type: Article |
| Language: English |
| Reprint Address: Hino, O (reprint author), Inst Canc, Dept Expt Pathol, Toshima Ku, 1-37-1 Kami Ikebukuro, Tokyo 1708455, Japan |
Addresses:
1. Inst Canc, Dept Expt Pathol, Toshima Ku, Tokyo 1708455, Japan
2. Univ Tokushima, Sch Med, Dept Pathol 2, Tokushima 7708503, Japan |
| Publisher: AMER ASSOC CANCER RESEARCH, PO BOX 11806, BIRMINGHAM, AL 35202 USA |
| Subject Category: Oncology |
| IDS Number: 167DQ |
| ISSN: 0008-5472 |
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