Identification of the von Hippel-Lindau disease tumor suppressor gene

Journal Article · Fri May 28 04:00:00 EDT 1993 · Science (Washington, D.C.); (United States)

DOI:https://doi.org/10.1126/science.8493574· OSTI ID:6310456

Latif, F; Yao, Masahiro; Orcutt, L; Kuzmin, I; Zhou, Fangwei; Zbar, B; Lerman, M I; Dean, M ^[1]; Tory, K; Duh, Fuhmei; Stackhouse, T; Modi, W; Geil, L; Schmidt, L; Li, Hua; Wei, Ming Hui; Chen, Fan; Glavac, D ^[2]; Gnarra, J; Walther, M M ; Weng, Yongkai; Duan, D S.R.; Linehan, W M; Glenn, G; Choyke, P ^[3]; Richards, F M; Crossey, P A; Ferguson-Smith, M A; Maher, E R ^[4]; Le, Paslier D; Chumakov, I; Cohen, D ^[5]; Chinault, A C ^[6]

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1. National Cancer Inst., Frederick, MD (United States)
2. Program Resources, Inc./DynCorp, Frederick, MD (United States) National Cancer Inst., Frederick, MD (United States)
3. National Cancer Inst., Bethesda, MD (United States)
4. Cambridge Univ. (United Kingdom)
5. Centre d'Etude du Polymorphisme Humain, Paris (France)
6. Baylor College, Houston, TX (United States)

A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL) disease tumor suppressor gene. A restriction fragment encompassing the gene showed rearrangements in 28 of 221 VHL kindreds. Eighteen of these rearrangements were due to deletions in the candidate gene, including three large nonoverlapping deletions. Intragenic mutations were detected in cell lines derived from VHL patients and from sporadic renal cell carcinomas. The VHL gene is evolutionarily conserved and encodes two widely expressed transcripts of approximately 6 and 6.5 kilobases. The partial sequence of the inferred gene product shows no homology to other proteins, except for an acidic repeat domain found in the procyclic surface membrane glycoprotein of Trypanosoma brucei. 17 refs., 4 figs. 1 tab.

• OSTI ID: 6310456
• Journal Information: Science (Washington, D.C.); (United States), Journal Name: Science (Washington, D.C.); (United States) Vol. 260:5112; ISSN SCIEAS; ISSN 0036-8075
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMINO ACID SEQUENCE
ANGIOMAS
BODY
BRAIN
CARCINOMAS
CENTRAL NERVOUS SYSTEM
CHROMOSOMES
CLONING
CYSTS
DIGESTIVE SYSTEM
DISEASES
DNA HYBRIDIZATION
DNA-CLONING
ENDOCRINE GLANDS
GENE MUTATIONS
GENES
GLANDS
HUMAN CHROMOSOME 3
HUMAN CHROMOSOMES
HYBRIDIZATION
INHIBITION
KIDNEYS
MAPPING
MEMBRANE PROTEINS
MOLECULAR STRUCTURE
MUTATIONS
NEOPLASMS
NERVOUS SYSTEM
ORGANIC COMPOUNDS
ORGANS
PANCREAS
PATHOLOGICAL CHANGES
PROTEINS
SPINAL CORD