HIF-2?-pVHL complex reveals broad genotype-phenotype correlations in HIF-2?-driven disease.
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ABSTRACT:
SUBMITTER: Tarade D
PROVIDER: S-EPMC6105673 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
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HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.
Tarade Daniel D Robinson Claire M CM Lee Jeffrey E JE Ohh Michael M
Nature communications 20180822 1
It is definitively established that mutations in transcription factor HIF-2α are causative of both neuroendocrine tumors (class 1 disease) and polycythemia (class 2 disease). However, the molecular mechanism that underlies this emergent genotype-phenotype relationship has remained unclear. Here, we report the structure of HIF-2α peptide bound to pVHL-elongin B-elongin C (VBC) heterotrimeric complex, which shows topographical demarcation of class 1 and 2 mutations affecting residues predicted, an ...[more]
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