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Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3

✍ Scribed by Hosoe, Shigeto; Brauch, Hiltrud; Latif, Farida; Glenn, Gladys; Daniel, Gambert; Bale, Sherri; Choyke, Peter; Gorin, Michael; Oldfield, Edward; Berman, Arlene; Goodman, Jack; Orcutt, Mary Lou; Hampsch, Krista; Dllisio, John; Modi, William; McBride, Wesley; Anglard, Patrick; Weiss, Gary; Walther, McClellan M.; Linehan, W.Marston; Lerman, Michael I.; Zbar, Berton

Book ID
122479407
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
850 KB
Volume
8
Category
Article
ISSN
0888-7543

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Von Hippel-Lindau disease is a heritable tumour syndrome caused by the loss of the function of a tumour suppressor gene on the short arm of human chromosome 3. The interval RAF1-D3S18 (3p25-3p26) has been identified by genetic linkage studies to harbour the von Hippel-Lindau gene. We have constructe

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The von Hippel-Lindau gene product (pVHL) interacts with and inhibits the cellular transcription factor elongin. However, the subcellular localization of pVHL has remained uncertain. Naturally occurring pVHL mutants which fail to interact with elongin have been described in patients with VHL disease