Abstract
A partial cDNA sequence for the gene linked to the von Hippel-Lindau (VHL) syndrome was reported in 1993. Mutation or loss of both VHL alleles has been documented in sporadic renal cell carcinomas and in the neoplasms that arise in von Hippel-Lindau kindreds. We have determined that the protein product of the VHL gene is an approximately 30 kilodalton cytoplasmic protein. The renal carcinoma cell line 786-O is known to harbour a VHL mutation and, as shown here, fails to produce a wild-type VHL protein. Reintroduction of wild-type, but not mutant, VHL into these cells had no demonstrable effect on their growth in vitro but inhibited their ability to form tumours in nude mice.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Blotting, Northern
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Carcinoma / genetics
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Cell Compartmentation
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Cell Transformation, Neoplastic / genetics*
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Cytoplasm / chemistry
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Fluorescent Antibody Technique
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Genes, Tumor Suppressor*
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Humans
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Kidney Neoplasms / genetics
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Ligases*
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Molecular Sequence Data
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Mutation
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Peptide Mapping
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Protein Biosynthesis
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Proteins / genetics*
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Proteins / immunology
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Proteins / isolation & purification
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Recombinant Fusion Proteins
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Transcription, Genetic
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Tumor Cells, Cultured
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Tumor Suppressor Proteins*
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Ubiquitin-Protein Ligases*
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Von Hippel-Lindau Tumor Suppressor Protein
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von Hippel-Lindau Disease / genetics*
Substances
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Proteins
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Recombinant Fusion Proteins
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Tumor Suppressor Proteins
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Ubiquitin-Protein Ligases
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Von Hippel-Lindau Tumor Suppressor Protein
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Ligases
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VHL protein, human