Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2α iron-responsive element?
MJ Percy, M Sanchez, S Swierczek… - Blood, The Journal …, 2007 - ashpublications.org
Blood, The Journal of the American Society of Hematology, 2007•ashpublications.org
Study of inherited polycythemia/erythrocytosis has revealed defects in the oxygen-sensing
pathway and provided insights into the regulation of erythropoietin (Epo) synthesis by
hypoxia inducible factor (HIF). 1 HIF is a dimer consisting of and subunits. Two different
isoforms exist: HIF-1, which is ubiquitously expressed, and HIF-2 or EPAS1, which is limited
to specific tissues. The constitutively expressed HIF-subunit is not hypoxia regulated. 2 In
normoxia, the HIF-1 and HIF-2 proteins are rapidly degraded through a complex interaction …
pathway and provided insights into the regulation of erythropoietin (Epo) synthesis by
hypoxia inducible factor (HIF). 1 HIF is a dimer consisting of and subunits. Two different
isoforms exist: HIF-1, which is ubiquitously expressed, and HIF-2 or EPAS1, which is limited
to specific tissues. The constitutively expressed HIF-subunit is not hypoxia regulated. 2 In
normoxia, the HIF-1 and HIF-2 proteins are rapidly degraded through a complex interaction …
Study of inherited polycythemia/erythrocytosis has revealed defects in the oxygen-sensing pathway and provided insights into the regulation of erythropoietin (Epo) synthesis by hypoxia inducible factor (HIF). 1 HIF is a dimer consisting of and subunits. Two different isoforms exist: HIF-1, which is ubiquitously expressed, and HIF-2 or EPAS1, which is limited to specific tissues.
The constitutively expressed HIF-subunit is not hypoxia regulated. 2 In normoxia, the HIF-1 and HIF-2 proteins are rapidly degraded through a complex interaction with one of several iron-containing prolyl hydroxylases (PHDs), leading to the binding of the von Hippel Lindau protein (pVHL), ubiquitination, and degradation by the proteasome. This interaction constitutes the
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