| Title | A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. | | Author(s) | Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, McMullin MF, Lee FS | | Institution | Belfast City Hospital, Northern Ireland, United Kingdom. melanie.percy@belfasttrust.hscni.net | | Source | N Engl J Med 2008 Jan 10; 358(2):162-8. | | MeSH | Adult
DNA Mutational Analysis
Erythropoiesis
Erythropoietin
Female
Genotype
Hematocrit
Hemoglobins
Humans
Hypoxia-Inducible Factor 1, alpha Subunit
Male
Pedigree
Point Mutation
Polycythemia
Polymerase Chain Reaction
| | Abstract | 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-2alpha protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2alpha protein and suggest that wild-type HIF-2alpha regulates erythropoietin production in adults. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
Research Support, N.I.H., Extramural
| | PubMed ID | 18184961 |
|
