Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases

European Journal of Haematology
Aleša KristanTanja Kunej

Abstract

Familial erythrocytosis (FE) is a congenital disorder, defined by elevated red blood cell number, hemoglobin, and hematocrit. Among eight types of FE, type 4 is caused by variants in the EPAS1 gene. Two other hypoxia-inducible factor alpha (HIFA) subunits, HIF1A and HIF3A, have not yet been associated with medical history of FE, but have potential role in the development of erythrocytosis. To improve diagnosis, it is crucial to identify new variants in genes involved in erythrocyte production. Published literature and data from genome browsers were used to obtain HIFA sequence variants associated with erythrocytosis and to locate them on protein sequence and regulatory sites. We retrieved 24 variants from the literature: 2 in HIF1A, 20 in EPAS1 and 2 in HIF3A gene. Sixteen out of 20 variants in the EPAS1 gene are positioned in a conserved region of 13 amino acids within exon 12, next to regulatory post-translational modification and binding sites, suggesting that EPAS1 has an important role in erythropoiesis. The role of HIF1A and HIF3A in the development of erythrocytosis should be further investigated.

References

Oct 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·G L SemenzaS E Antonarakis
May 11, 2002·Science·Jung-Hyun MinNikola P Pavletich
Jul 9, 2004·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Christina WarneckeKai-Uwe Eckardt
Aug 5, 2006·Molecular Pharmacology·Qingdong Ke, Max Costa
Feb 8, 2007·Proceedings of the National Academy of Sciences of the United States of America·Michaela GruberM Celeste Simon
Apr 4, 2007·The Journal of Clinical Investigation·Erinn B RankinVolker H Haase
Jun 9, 2007·The Journal of Clinical Investigation·Carole PeyssonnauxRandall S Johnson
Jan 11, 2008·The New England Journal of Medicine·Melanie J PercyFrank S Lee
Dec 17, 2009·Haematologica·Richard van WijkFrank S Lee
May 15, 2010·Science·Tatum S SimonsonRiLi Ge
Jul 16, 2010·Blood·Pinelopi P KapitsinouVolker H Haase
Oct 14, 2010·Annual Review of Pathology·Frank S Lee, Melanie J Percy
Oct 30, 2010·Molecular Biology and Evolution·Yi PengBing Su
Apr 12, 2011·Cellular and Molecular Life Sciences : CMLS·Minna HeikkiläJohanna Myllyharju
Apr 27, 2011·Human Mutation·Ivo F A C FokkemaJohan T den Dunnen
Mar 1, 2012·American Journal of Hematology·Melanie J PercyFrank S Lee
May 19, 2012·Blood Cells, Molecules & Diseases·Norman E BurokerShi-Han Chen
Oct 24, 2012·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Felipe R LorenzoJosef T Prchal
Jan 8, 2013·Blood Reviews·Volker H Haase
Jun 5, 2013·Blood·Kristin FrankeBen Wielockx
Oct 9, 2013·Critical Reviews in Biochemistry and Molecular Biology·Veronica L DenglerJoaquín M Espinosa
Oct 12, 2013·Human Mutation·Celeste BentoUNKNOWN ECE-Consortium
Nov 13, 2015·American Journal of Physiology. Cell Physiology·Cunming Duan
Mar 5, 2016·Human Mutation·Johan T den DunnenPeter E M Taschner
May 11, 2016·International Journal of Laboratory Hematology·M F McMullin
Jun 14, 2016·Hematology·Tzvetan AlaikovVelizar Shivarov
Sep 21, 2016·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Lucija Slemc, Tanja Kunej

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Citations

Nov 27, 2019·Cellular and Molecular Life Sciences : CMLS·Jussi-Pekka TolonenJohanna Myllyharju
May 21, 2021·Annals of Hematology·Saša Anžej DomaIrena Preložnik Zupan
Jun 8, 2021·Clinical Hemorheology and Microcirculation·Saša Anžej DomaIrena Preložnik Zupan

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