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

M.J. Percy, P.W. Furlow, G.S. Lucas, X. Li, Terence Lappin, Mary McMullin, F.S. Lee

Research output: Contribution to journalArticle

209 Citations (Scopus)

Abstract

Hypoxia-inducible factor (HIF) a, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-a 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-2a protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2a protein and suggest that wild-type HIF-2a regulates erythropoietin production in adults.
Original languageEnglish
Pages (from-to)162-168
Number of pages7
JournalNew England Journal of Medicine
Volume358
Issue number2
DOIs
Publication statusPublished - 10 Jan 2008

Bibliographical note

2008 Massachusetts Medical Society

ASJC Scopus subject areas

  • Medicine(all)

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  • Impacts

    Identifying Patients with Rare Forms of Erythrocytosis

    Mary Frances McMullin (Participant), Terence Lappin (Participant) & Anne Hughes (Participant)

    Impact: Health Impact, Quality of Life Impact

    Cite this

    Percy, M. J., Furlow, P. W., Lucas, G. S., Li, X., Lappin, T., McMullin, M., & Lee, F. S. (2008). A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. New England Journal of Medicine, 358(2), 162-168. https://doi.org/10.1056/NEJMoa073123