A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

被引：253

作者：

Percy, Melanie J. ^{[1
]}

Furlow, Paul W. ^{[3
]}

Lucas, Guy S. ^{[4
]}

Li, Xiping ^{[3
]}

Lappin, Terence R. J. ^{[2
]}

McMullin, Mary Frances ^{[2
]}

Lee, Frank S. ^{[3
]}

机构：

[1] Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North Ireland

[2] Queens Univ Belfast, Ctr Canc Res & Cell Biol, Belfast, Antrim, North Ireland

[3] Univ Penn, Sch Med, Dept Pathol & Lab Med, Stellar Chance Labs 605, Philadelphia, PA 19104 USA

[4] Manchester Royal Infirm, Manchester M13 9WL, Lancs, England

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2008年 / 358卷 / 02期

关键词：

D O I：

10.1056/NEJMoa073123

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hypoxia-inducible factor (HIF) alpha, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-alpha is a transcription factor that modulates a wide range of processes, including erythropoiesis, angiogenesis, and cellular metabolism. We describe a family with erythrocytosis and a mutation in the HIF2A gene, which encodes the HIF-2 alpha protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2 alpha protein and suggest what wild-type HIF-2 alpha regulates erythropoietin production in adults.

引用

页码：162 / 168

页数：7

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