Submitted by kej2006 on June 6, 2018 - 4:10pm
Title | A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. |
Publication Type | Journal Article |
Year of Publication | 2008 |
Authors | Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TRJ, McMullin MFrances, Lee FS |
Journal | N Engl J Med |
Volume | 358 |
Issue | 2 |
Pagination | 162-8 |
Date Published | 2008 Jan 10 |
ISSN | 1533-4406 |
Keywords | Adult, Basic Helix-Loop-Helix Transcription Factors, DNA Mutational Analysis, Erythropoiesis, Erythropoietin, Female, Genotype, Hematocrit, Hemoglobins, Humans, 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. |
DOI | 10.1056/NEJMoa073123 |
Alternate Journal | N. Engl. J. Med. |
PubMed ID | 18184961 |
PubMed Central ID | PMC2295209 |
Grant List | R01 CA090261 / CA / NCI NIH HHS / United States R01 CA090261-05 / CA / NCI NIH HHS / United States R01 C090261 / / PHS HHS / United States |