Role of VHL Gene Mutation in Human Cancer

WY Kim, WG Kaelin - Journal of clinical oncology, 2004 - ascopubs.org
WY Kim, WG Kaelin
Journal of clinical oncology, 2004ascopubs.org
Germline inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene causes the
von Hippel-Lindau hereditary cancer syndrome, and somatic mutations of this gene have
been linked to the development of sporadic hemangioblastomas and clear-cell renal
carcinomas. The VHL tumor suppressor protein (pVHL), through its oxygen-dependent
polyubiquitylation of hypoxia-inducible factor (HIF), plays a central role in the mammalian
oxygen-sensing pathway. This interaction between pVHL and HIF is governed by post …
Germline inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene causes the von Hippel-Lindau hereditary cancer syndrome, and somatic mutations of this gene have been linked to the development of sporadic hemangioblastomas and clear-cell renal carcinomas. The VHL tumor suppressor protein (pVHL), through its oxygen-dependent polyubiquitylation of hypoxia-inducible factor (HIF), plays a central role in the mammalian oxygen-sensing pathway. This interaction between pVHL and HIF is governed by post-translational prolyl hydroxylation of HIF in the presence of oxygen by a conserved family of Egl-nine (EGLN) enzymes. In the absence of pVHL, HIF becomes stabilized and is free to induce the expression of its target genes, many of which are important in regulating angiogenesis, cell growth, or cell survival. Moreover, preliminary data indicate that HIF plays a critical role in pVHL-defective tumor formation, raising the possibility that drugs directed against HIF or its downstream targets (such as vascular endothelial growth factor) might one day play a role in the treatment of hemangioblastoma and renal cell carcinoma. On the other hand, clear genotype-phenotype correlations are emerging in VHL disease and can be rationalized if pVHL has functions separate from its control of HIF.
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