title: The VHL tumour-suppressor gene paradigm.
abstract: The VHL tumour-suppressor gene (TSG) has a critical 'gatekeeper' role in regulating growth and differentiation of human kidney cells, and inactivation of the VHL gene is the most frequent genetic event in human kidney cancer. There are many similarities between the genetics of the VHL and retinoblastoma TSGs, but the VHL tumourigenesis model is more complex. Here, we examine the current knowledge of the genetics and functional aspects of the VHL TSG, and emphasize how the VHL gene provides a paradigm that illustrates many aspects of TSG biology.
authors.affiliation: Division of Adult Oncology, Dana-Farber Cancer Hospital, Boston, MA, USA. william_kaelin@macmailgw.dfci.harvard.edu
authors.forename: W G
authors.initials: WG
authors.lastname: Kaelin
authors.forename: E R
authors.initials: ER
authors.lastname: Maher
mesh_terms: D016147:Genes, Tumor Suppressor; D006801:Humans; D008025:Ligases; D009369:Neoplasms / Q000235:genetics; D009389:Neovascularization, Pathologic; D011506:Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human