Jihyun Song

Jihyun Song, PhD

Languages spoken: English, Korean

Academic Information

Departments Primary - Internal Medicine

Divisions: Hematology & Hematologic Malignancies

As a Research Assistant Professor in the Division of Hematology & Hematologic Malignancies at the University of Utah, I have been exploring the molecular changes in blood cells under various hypoxic conditions, influenced by environmental factors, genetic variations, disease-causing mutations, and the molecular mechanisms of myeloproliferative neoplasms (MPN).

During my time as a graduate research assistant in the Department of Human Genetics at the University of Utah, my focus has been on elucidating the molecular mechanisms of neocytolysis, a rapid overcorrection of hypoxia-induced erythrocytosis upon rapid descent to normoxia, using a mouse model. Our discoveries indicated that neocytolysis is triggered by a hypoxia inducible factor (HIF)-mediated increase in reactive oxygen species (ROS) and mitochondrial mass.

In my postdoctoral research, I extended these findings from the mouse model of neocytolysis to a human disease model, specifically obstructive sleep apnea (OSA). I demonstrated that the absence of erythrocytosis in OSA is mediated by neocytolysis and inflammation, which suppress erythropoiesis.

Currently, my research focuses on the evolutionary adaptation of the Andean Aymara to high-altitude hypoxia. This includes the discovery of selectively evolved NFKB1 variants in the Aymara population, which are associated with elevated hemoglobin levels and modulation of inflammation in chronic inflammatory diseases and hematologic malignancies. I am also investigating the role of HIF signaling and iron deficiency in thrombosis in MPNs, with the aim of identifying novel therapeutic targets.

Education History

Undergraduate Sungkyunkwan University
 BS
Graduate Training Sungkyunkwan University
 MS
Graduate Training University of Utah School of Medicine
 PhD
Postdoctoral Fellowship University of Utah School of Medicine
 Postdoctoral Fellow

Selected Publications

Journal Article

  1. Gordeuk VR, Shah BN, Zhang X, Thuma PE, Zulu S, Moono R, Reading NS, Song J, Zhang Y, Nouraie M, Campbell A, Minniti CP, Rana SR, Darbari DS, Kato GJ, Niu M, Castro OL, Machado R, Gladwin MT, Prchal J (2020). The CYB5R3c .350C>G and G6PD A alleles modify severity of anemia in malaria and sickle cell disease. American journal of hematology, 95(11), 1269-1279.
  2. Crawford JE, Amaru R, Song J, Julian CG, Racimo F, Cheng JY, Guo X, Yao J, Ambale-Venkatesh B, Lima JA, Rotter JI, Stehlik J, Moore LG, Prchal JT, Nielsen (2017). Natural Selection on Genes Related to Cardiovascular Health in High-Altitude Adapted Andeans. American journal of human genetics, 101(5), 752-767.
  3. Kapralova K, Lanikova L, Lorenzo F, Song J, Horvathova M, Divoky V, Prchal J (2014). RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling. Blood, 123(3), 391-4.
  4. Reading NS, Shooter C, Song J, Miller R, Agarwal A, Lanikova L, Clark B, Thein SL, Divoky V, Prchal J (2016). Loss of Major DNase I Hypersensitive Sites in Duplicated ß-globin Gene Cluster Incompletely Silences HBB Gene Expression. Human mutation, 37(11), 1153-1156.
  5. Song J, Prchal J (2018). Evaluation of Erythrocyte Changes After Normoxic Return from Hypoxia. Methods in molecular biology (Clifton, N.J.), 1742, 185-194.
  6. Song J, Sundar K, Gangaraju R, Prchal J (2017). Regulation of erythropoiesis after normoxic return from chronic sustained and intermittent hypoxia. Journal of applied physiology (Bethesda, Md., 123(6), 1671-1675.
  7. Tashi T, Swierczek S, Kim SJ, Salama ME, Song J, Heikal N, King KY, Hickman K, Litton S, Prchal J (2018). Pegylated interferon Alfa-2a and hydroxyurea in polycythemia vera and essential thrombocythemia: differential cellular and molecular responses. Leukemia, 32(8), 1830-1833.
  8. Kim Y, Song J, Mays CE, Titlow W, Yoon D, Ryou (2009). Changes in gene expression of kringle domain-containing proteins in murine brains and neuroblastoma cells infected by prions. Molecular and cellular biochemistry, 328(1-2), 177-82.
  9. Song J, Yoon D, Christensen RD, Horvathova M, Thiagarajan P, Prchal J (2015). HIF-mediated increased ROS from reduced mitophagy and decreased catalase causes neocytolysis. Journal of molecular medicine (Berlin, Germany), 93(8), 857-66.
  10. McClain DA, Abuelgasim KA, Nouraie M, Salomon-Andonie J, Niu X, Miasnikova G, Polyakova LA, Sergueeva A, Okhotin DJ, Cherqaoui R, Okhotin D, Cox JE, Swierczek S, Song J, Simon MC, Huang J, Simcox JA, Yoon D, Prchal JT, Gordeuk V (2013). Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism. Journal of molecular medicine (Berlin, Germany), 91(1), 59-67.
  11. Gangaraju R, Song J, Kim SJ, Tashi T, Reeves BN, Sundar KM, Thiagarajan P, Prchal J (2020). Thrombotic, inflammatory, and HIF-regulated genes and thrombosis risk in polycythemia vera and essential thrombocythemia. Blood advances, 4(6), 1115-1130.
  12. Chan XY, Volkova E, Eoh J, Black R, Fang L, Gorashi R, Song J, Wang J, Elliott MB, Barreto-Ortiz SF, Chen J, Lin BL, Santhanam L, Cheng L, Lee FS, Prchal JT, Gerecht (2021). HIF2A gain-of-function mutation modulates the stiffness of smooth muscle cells and compromises vascular mechanics. iScience, 24(4), 102246.
  13. Song J, Kim SJ, Gollamudi J, Thiagarajan P, Prchal J (2022). Downregulated KLF2 in polycythemia vera and essential thrombocythemia induces prothrombotic gene expression. Blood advances, 7(5), 712-717.
  14. Kralova B, Sochorcova L, Song J, Jahoda O, Hlusickova Kapralova K, Prchal JT, Divoky V, Horvathova (2022). Developmental changes in iron metabolism and erythropoiesis in mice with human gain-of-function erythropoietin receptor. American journal of hematology, 97(10), 1286-1299.
  15. Amaru R, Song J, Reading NS, Gordeuk VR, Prchal J (2023). "What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras". Genes, 14(3),
  16. Song J, Sundar KM, Horvathova M, Gangaraju R, Indrak K, Christensen RD, Genzor S, Lundby C, Divoky V, Ganz T, Prchal J (2023). Increased blood reactive oxygen species and hepcidin in obstructive sleep apnea precludes expected erythrocytosis. American journal of hematology,
  17. Zhang X, Song J, Shah BN, Han J, Hassan T, Miasniakova G, Sergueeva A, Nekhai S, Machado RF, Gladwin MT, Saraf SL, Prchal JT, Gordeuk V (2023). Gene expression changes in sickle cell reticulocytes and their clinical associations. Scientific reports, 13(1), 12864.
  18. Song J, Lanikova L, Kim SJ, Papadopoulos N, Meznarich J, Constantinescu SN, Parsegov B, Prchal JF, Prchal J (2024). Novel germline JAK2(R715T) mutation causing PV-like erythrocytosis in 3 generations. Amelioration by Ropeg-Interferon. American journal of hematology, 99(7), 1220-1229.
  19. Song J, Han S, Amaru R, Lanikova L, Quispe T, Kim D, Crawford JE, Kim SJ, Lee Y, Prchal J (2025). Alternatively spliced NFKB1 transcripts enriched in Andean Aymara modulate inflammation, HIF and hemoglobin. Nature communications, 16(1), 1766.
  20. Valentine C, Song J, Swomley A, Stephenson WT, Parsegov B, Christensen RD, Prchal J (2025). Self-administered Vitamin C Increased Red Cell Survival in Class A G6PD Deficiency. Blood Red Cells & Iron, 100006.
  21. Prchal JT, Burtscher M, Kim SJ, Wille M, Amaru R, Song (2026). Do Andean Aymara High-Altitude-Enriched Genetic Variants Protect Europeans Against Acute Mountain Sickness?. Acta physiologica (Oxford, England), 242(2), e70154.
  22. Tashi T, Shih LY, Yo YT, Sullivan A, Chueh HY, Kuo MC, Smith A, Kim SJ, Parsegov B, Reeves BN, Song J, Prchal J (2026). Ropeginterferon alfa-2b has minimal transplacental passage and breastmilk secretion in pregnant MPN patients. Blood advances,
  23. Lanikova L, Hrckulak D, Zimolova V, Lorenzo FR, Song J, Vecerkova K, Babosova O, Berkova L, Korinek V, Elliott S, Prchal J (2026). Autosomal Dominant Erythrocytosis Caused by Non-Renal Erythropoietin (EPO) Due to EPO c.-136 G>A Germline Mutation. American journal of hematology,
  24. Reeves BN, Song J, Leier A, Smith A, Kim SJ, Chen SL, Tashi T, Prchal J (2025). Metformin alleviates side effects and supports the resumption of interferon therapy in polycythemia vera and essential thrombocythemia. Haematologica,
  25. Song J, Amaru R, Prchal J (2025). High altitude: A forgotten cause of pulmonary oedema. Lung India, 42(5), 389-390.
  26. Wang J, Zhang W, Xu X, Buglioni A, Li P, Chen X, Liu Y, Xu M, Herrick JL, Horna P, Zhang X, Song J, Jevremovic D, He R, Shi M, Yuan (2024). Clinicopathologic features and outcomes of acute leukemia harboring PICALM::MLLT10 fusion. Human pathology, 151, 105626.

Review

  1. Tashi T,Song J,Prchal (2019). Congenital and evolutionary modulations of hypoxia sensing and their erythroid phenotype. Current opinion in physiology, 7, 27-32.

Editorial

  1. Song J, Tashi T, Prchal J (2019). Editorial Comment on: Inhibition of Suicidal Erythrocyte Death by Chronic Hypoxia by Tang et al. (From: Tang F, Feng L, Li R, Wang W, Liu H, Yang Q, Ge R-L. High Alt Med Biol 2019;20:112-119; DOI: 10.1089/ham.2017.0159). High altitude medicine & biology, 20(2), 120-121.
  2. Song J, Christensen RD, Thiagarajan P, Prchal J (2021). Does neocytolysis exist after descent from high altitude?. Acta physiologica (Oxford, England), 233(3), e13713.

Letter

  1. Zhang X, Song J, Shah BN, Nekhai S, Miasnikova G, Sergueeva A, Prchal JT, Gordeuk V (2020). Peripheral blood mononuclear cells show prominent gene expression by erythroid progenitors in diseases characterized by heightened erythropoiesis. British journal of haematology, 190(1), e42-e45.
  2. Gordeuk VR, Miasnikova GY, Sergueeva AI, Lorenzo FR, Zhang X, Song J, Stockton DW, Prchal J (2020). Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit. Haematologica, 105(3), e87-e90.
  3. Sergueeva A, Miasnikova G, Shah BN, Song J, Lisina E, Okhotin DJ, Nouraie M, Nekhai S, Ammosova T, Niu XM, Prchal JT, Zhang X, Gordeuk V (2017). Prospective study of thrombosis and thrombospondin-1 expression in Chuvash polycythemia. Haematologica, 102(5), e166-e169.
  4. Reeves BN, Kim SJ, Song J, Wilson KJ, Henderson MW, Key NS, Pawlinski R, Prchal J (2022). Tissue factor activity is increased in neutrophils from JAK2 V617F-mutated essential thrombocythemia and polycythemia vera patients. American journal of hematology, 97(2), E37-E40.
  5. Kim SJ, Song J, Reading NS, Lautersztain J, Kutler A, Agarwal AM, Coetzer TL, Prchal JT (2021). Novel mechanism of hereditary pyropoikilocytosis phenotype due to co-inheritance of B globin and a spectrin mutations. Am J Hematol, 96(5), 150-154.

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