Erythrocytosis: the HIF pathway in control

被引：93

作者：

Franke, Kristin ^{[1
]}

Gassmann, Max ^{[2
,3
,4
]}

Wielockx, Ben ^{[1
,5
,6
]}

机构：

[1] Tech Univ Dresden, Emmy Noether Res Grp, Inst Pathol, Dresden, Germany

[2] Vetsuisse Fac, Inst Vet Physiol, Zurich, Switzerland

[3] Zurich Ctr Integrat Human Physiol ZIHP, Zurich, Switzerland

[4] Univ Peruana Cayetano Heredia, Lima, Peru

[5] Tech Univ Dresden, DFG Res Ctr, Dresden, Germany

[6] Tech Univ Dresden, Cluster Excellence Regenerat Therapies Dresden, Dresden, Germany

来源：

BLOOD | 2013年 / 122卷 / 07期

基金：

瑞士国家科学基金会;

关键词：

HYPOXIA-INDUCIBLE-FACTOR; HYDROXYLASE DOMAIN PROTEIN-2; ERYTHROPOIETIN-PRODUCING CELLS; CHUVASH POLYCYTHEMIA; CONGENITAL POLYCYTHEMIA; VHL MUTATION; STEM-CELL; VASCULAR TUMORS; MESSENGER-RNA; PHD2; MUTATION;

D O I：

10.1182/blood-2013-01-478065

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Organisms living under aerobic conditions need oxygen for the metabolic conversion of nutrition into energy. With the appearance of increasingly complex animals, a specialized transport system (erythrocytes) arose during evolution to provide oxygen to virtually every single cell in the body. Moreover, in case of low environmental partial pressure of oxygen, the number of erythrocytes automatically increases to preserve sustained oxygen delivery. This process relies predominantly on the cytokine erythropoietin (Epo) and its transcription factor hypoxia inducible factor (HIF), whereas the von Hippel-Lindau (VHL) ubiquitin ligase as well as the oxygen-sensitive prolyl hydroxylases (PHDs) represent essential regulators of this oxygen-sensing system. Deregulation of particular members of this pathway (eg, PHD2, HIF2a, VHL) lead to disorders in blood homeostasis as a result of insufficient (anemia) or excessive (erythrocytosis) red blood cell production.

引用

页码：1122 / 1128

页数：7

共 100 条

[1] Disturbance in the HIF-1α pathway associated with erythrocytosis:: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene [J].

Al-Sheikh, Maha ;

Moradkhani, Kamran ;

Lopez, Marc ;

Wajcman, Henri ;

Prehu, Claude .

BLOOD CELLS MOLECULES AND DISEASES, 2008, 40 (02) :160-165

[2] Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene [J].

Albiero, Elena ;

Ruggeri, Marco ;

Fortuna, Stefania ;

Finotto, Silvia ;

Bernardi, Martina ;

Madeo, Domenico ;

Rodeghiero, Francesco .

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2012, 97 (01) :123-127

[3] Analysis of the oxygen sensing pathway genes in familial chronic myeloproliferative neoplasms and identification of a novel EGLN1 germ-line mutation [J].

Albiero, Elena ;

Ruggeri, Marco ;

Fortuna, Stefania ;

Bernardi, Martina ;

Finotto, Silvia ;

Madeo, Domenico ;

Rodeghiero, Francesco .

BRITISH JOURNAL OF HAEMATOLOGY, 2011, 153 (03) :405-408

[4] Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia [J].

Ang, SO ;

Chen, H ;

Hirota, K ;

Gordeuk, VR ;

Jelinek, J ;

Guan, YL ;

Liu, EL ;

Sergueeva, AI ;

Miasnikova, GY ;

Mole, D ;

Maxwell, PH ;

Stockton, DW ;

Semenza, GL ;

Prchal, JT .

NATURE GENETICS, 2002, 32 (04) :614-621

[5] Endemic polycythemia in Russia: Mutation in the VHL gene [J].

Ang, SO ;

Chen, H ;

Gordeuk, VR ;

Sergueeva, AI ;

Polyakova, LA ;

Miasnikova, GY ;

Kralovics, R ;

Stockton, DW ;

Prchal, JT .

BLOOD CELLS MOLECULES AND DISEASES, 2002, 28 (01) :57-62

[6] COLOCALIZATION OF ERYTHROPOIETIN MESSENGER-RNA AND ECTO-5'-NUCLEOTIDASE IMMUNOREACTIVITY IN PERITUBULAR CELLS OF RAT RENAL-CORTEX INDICATES THAT FIBROBLASTS PRODUCE ERYTHROPOIETIN [J].

BACHMANN, S ;

LEHIR, M ;

ECKARDT, KU .

JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 1993, 41 (03) :335-341

[7] The glucocorticoid receptor is required for stress erythropoiesis [J].

Bauer, A ;

Tronche, F ;

Wessely, O ;

Kellendonk, C ;

Reichardt, HM ;

Steinlein, P ;

Schütz, G ;

Beug, H .

GENES & DEVELOPMENT, 1999, 13 (22) :2996-3002

[8] Natural selection on EPAS1 (HIF2α) associated with low hemoglobin concentration in Tibetan highlanders [J].

Beall, Cynthia M. ;

Cavalleri, Gianpiero L. ;

Deng, Libin ;

Elston, Robert C. ;

Gao, Yang ;

Knight, Jo ;

Li, Chaohua ;

Li, Jiang Chuan ;

Liang, Yu ;

McCormack, Mark ;

Montgomery, Hugh E. ;

Pan, Hao ;

Robbins, Peter A. ;

Shianna, Kevin V. ;

Tam, Siu Cheung ;

Tsering, Ngodrop ;

Veeramah, Krishna R. ;

Wang, Wei ;

Wangdui, Puchung ;

Weale, Michael E. ;

Xu, Yaomin ;

Xu, Zhe ;

Yang, Ling ;

Zaman, M. Justin ;

Zeng, Changqing ;

Zhang, Li ;

Zhang, Xianglong ;

Zhaxi, Pingcuo ;

Zheng, Yong Tang .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (25) :11459-11464

[9] HIF prolyl-hydroxylase 2 is the key oxygen sensor setting low steady-state levels of HIF-1α in normoxia [J].

Berra, E ;

Benizri, E ;

Ginouvès, A ;

Volmat, V ;

Roux, D ;

Pouysségur, J .

EMBO JOURNAL, 2003, 22 (16) :4082-4090

[10] Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension [J].

Bond, Jonathan ;

Gale, Daniel P. ;

Connor, Thomas ;

Adams, Stuart ;

de Boer, Jasper ;

Gascoyne, Duncan M. ;

Williams, Owen ;

Maxwell, Patrick H. ;

Ancliff, Philip J. .

BLOOD, 2011, 117 (13) :3699-3701

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