作者
Yves Pastore, Katerina Jedlickova, Yongli Guan, Enli Liu, James Fahner, Henrik Hasle, Jaroslav F Prchal, Josef T Prchal
发表日期
2003/8/1
期刊
The American Journal of Human Genetics
卷号
73
期号
2
页码范围
412-419
出版商
Elsevier
简介
The von Hippel-Lindau (pVHL) protein plays an important role in hypoxia sensing. It binds to the hydroxylated hypoxia-inducible factor 1α (HIF-1α) and serves as a recognition component of an E3-ubiquitin ligase complex. In hypoxia or secondary to a mutated VHL gene, the nondegraded HIF-1α forms a heterodimer with HIF-β and leads to increased transcription of hypoxia-inducible genes, including erythropoietin (EPO). The autosomal dominant cancer-predisposition von Hippel-Lindau (VHL) syndrome is due to inheritance of a single mutated allele of VHL. In contrast, we recently showed that homozygous germline 598C→T VHL mutation leads to Chuvash polycythemia (CP). We subsequently found VHL mutations in three unrelated individuals unaffected with CP, one of whom was compound heterozygous for the 598C→T mutation and another VHL mutation. We now report seven additional polycythemic …
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Y Pastore, K Jedlickova, Y Guan, E Liu, J Fahner… - The American Journal of Human Genetics, 2003