Erythropoietin receptor and hematological disease

American Journal of Hematology

Volumn 60, Issue 1, 1999, Pages 55-60

  McMullin, Mary Frances ^a   Percy, Melanie J ^a  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

Erythrocytosis; Erythropoietin; Erythropoietin receptor; Myeloproliferative disorder

Indexed keywords

ERYTHROPOIETIN RECEPTOR;

ERYTHROCYTOSIS; FAMILIAL DISEASE; GENE MUTATION; HEMATOCRIT; HEMATOLOGIC DISEASE; HUMAN; PATHOGENESIS; POLYCYTHEMIA; POLYCYTHEMIA VERA; PRIORITY JOURNAL; REVIEW;

HEMATOLOGIC DISEASES; HUMANS; RECEPTORS, ERYTHROPOIETIN;

EID: 0032889513     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199901)60:1<55::AID-AJH9>3.0.CO;2-V     Document Type: Review

References (71)

1. Krantz SB. Erythropoietin. Blood 1992;77:419.
2. Jelkmann W. Erythropoietin, structure, control of production and function. Physiol Rev 1992;72:449.
3. Lappin TRJ, Elder GE, Taylor T, McMullin MF, Bridges JM. Comparison of the mouse spleen cell assay and a radioimmunoassay for the measurement of serum erythropoietin. Br J Haematol 1988;70:117.
4. Wognum AW, Lansdorp PM, Humphries RK, Krystal G. Detection and isolation of the erythropoietin receptor using biotinylated erythropoietin. Blood 1990;76:697.
5. Youssoufian H, Longmore G, Neumann D, Yoshimura A, Lodish HF. Structure, function, and activation of the erythropoietin receptor. Blood 1993;81:2223.
6. Barber DL, D'Andrea AD. The erythropoietin receptor and the molecular basis of signal transduction. Semin Hematol 1992;29:293.
7. Bazan JF. Haemopoietic receptors and helical cytokines. Immunol Today 1990;11:350.
8. Cosman D, Lyman SD, Idzerda RL, Beckman MP, Park LS, Goodwin RG, March CJ. A new cytokine receptor superfamily. Trends Biochem Sci 1990;15:265.
9. Bazan JF. Structural design and molecular evolution of a cytokine receptor family. Proc Natl Acad Sci USA 1990;87:6934.
10. Maouche L, Tournamille C, Hattab C, Boffa G, Cartron J-P, Chretien S. Cloning of the gene encoding the human erythropoietin receptor. Blood 1991;78:2557.
11. Noguchi CT, Bae KS, Chin K, Wada Y, Scheeler AN, Hankins WD. Cloning of the human erythropoietin receptor gene. Blood 1991;78: 2548.
12. D'Andrea AD, Yoshimura A, Youssoufian H, Zon LI, Koo J-W, Lodish HF. The cytoplasmic region of the erythropoietin receptor contains nonoverlapping positive and negative growth-regulatory domains. Mol Cell Biol 1991;11:1980.
13. Miura O, Nakamura N, Quelle FW, Witthuhn BA, Ilhe JN, Aoki N. Erythropoietin induces association of the JAK2 protein tyrosine kinase with the erythropoietin receptor. Blood 1994;84:1501.
14. Witthuhn BA, Quelle FW, Silvennoinen O, Yi T, Tang B, Miura O, Ilhe JN. JAK2 associates with the erythropoietin receptor and is tyrosine phosphorylated and activated following stimulation with erythropoietin. Cell 1993;74:227.
15. Damen JE, Krystal G. Early events in erythropoietin-induced signaling. Exp Hematol 1996;24:1455.
16. Damen JE, Wakao H, Miyajima A, Krosl J, Humphries RK, Cutler RL, Krystal G. Tyrosine 343 in the erythropoietin receptor positively regulates erythropoietin-induced cell proliferation and STATS activation. Eur Mol Biol Organ J 1995;14:5557.
17. Gobert S, Chretien S, Gouilleux F, Muller O, Pallard C, Dusanter-Fourt I, Groner B, Lacombe C, Gisselbrecht S, Mayeux P. Identification of tyrosine residues within the intracellular domain of the erythropoietin receptor crucial for STATS activation. Eur Mol Biol Organ J 1996;15:2434.
18. Ihle JN, Kerr IM. Jaks and Stats in signaling by the cytokine receptor superfamily. Trends Genet 1995;11:69.
19. Damen JE, Cutler RL, Jiao H, Yi T, Krystal G. Phosphorylation of tyrosine 503 in the erythropoietin receptor (EpR) is essential for binding of the P85 subunit of phosphatidylinosital (PI) 3-kinase for EpR-associated PI 3-kinase activity. J Biol Chem 1995;270:23402.
20. Ren H-Y, Komatsu N, Shimizu R, Okada K, Miura Y. Erythropoietin induces tyrosine phosphorylation and activation of phospholipase C-γ1 in a human erythropoietin-dependent cell line. J Biol Chem 1994;269:19633.
21. Miura O, Miura Y, Nakamura N, Quelle FW, Witthuhn BA, Ilhe JN, Aoki N. Induction of tyrosine phosphorylation of Vav and expression of Pim-1 correlates with Jak2-mediated growth signaling from the erythropoietin receptor. Blood 1994;84:4135.
22. Hanazono Y, Chiba S, Sasaki K, Mano H, Yazaki Y, Hirai H. Erythropoietin induces tyrosine phosphorylation and kinase activity of fps/ fes proto-oncogene product in human erythropoietin-responsive cells. Blood 1993;81:3193.
23. ras activation and p120GAP tyrosine phosphorylation in human erythroleukemia cells. J Biol Chem 1992;267:8293.
24. Longmore GD, You Y, Molden J, Liu D, Mikami A, Lai SY, Pharr P, Goldsmith MA. Redundant and selective roles for erythropoietin receptor tyrosines in erythropoiesis in vivo. Blood 1998;91:870.
25. Klingmuller U. The role of tyrosine phosphorylation in proliferation and maturation of erythroid progenitor cells. Eur J Biochem 1997;249: 37.
26. Tauchi T, Damen JE, Toyama K, Feng C-S, Boxmeyer HE, Krystal G. Tyrosine 425 within the activated erythropoietin receptor binds Syp, reduces the erythropoietin required for Syp tyrosine phosphorylation, and promotes mitogenesis. Blood 1996;87:4495.
27. Klingmuller U, Lorenz U, Cantley LC, Neel BG, Lodish HF. Specific recruitment of SH-PTP1 to the erythropoietin receptor causes inactivation of JAK2 and termination of proliferative signals. Cell 1995;80: 729.
28. Shadow ER, Pacifici R, Crouse J, Batac J, Todokoro K, Wojchowski DM. Hematopoietic cell phosphatase negatively regulates erythropoietin-induced hemoglobinization in erythroleukemic SKT6 cells. Blood 1997;90:2175.
29. Verdier F, Chretien S, Billat C, Gisselbrecht S, Lacombe C, Mayeux P. Erythropoietin induces the tyrosine phosphorylation of insulin receptor substrate-2. J Biol Chem 1997;272:26173.
30. Adamson JW, Fialkow PJ, Murphy S, Prchal JF, Steinmann L. Polycythemia vera: stem cell and probable clonal origin of the disease. N Engl J Med 1976;295:913.
31. Prchal JF, Adamson JW, Murphy S, Steinmann L, Fialkow PJ. Polycythemia vera: the in vitro response of normal and abnormal stem cells to erythropoietin. J Clin Invest 1978;61:1044.
32. Messinezy M, Westwood NB, Woodcock SP, Strong RM, Pearson TC. Low serum erythropoietin - a strong diagnostic criterion of primary polycythaemia even at normal haemoglobin levels. Clin Lab Haematol 1995;17:217.
33. Cotes PM, Dore CJ, Liu Yin JA, Lewis SM, Messinezy M, Pearson TC, Reid C. Determination of serum immunoreactive erythropoietin in the investigation of erythrocytosis. N Engl J Med 1986;315:283.
34. Eridani S, Pearson TC, Sawyer B, Batter E, Wetherley-Mein G. Erythroid colony formation in primary proliferative polycythaemia, idiopathic erythrocytosis and secondary polycythaemia: sensitivity to erythropoietin stimulating Clin Lab Haematol 1983;5:121.
35. Lemoine F, Najman A, Bailou C, Stachowiak J, Boffa G, Aegerter P, Douay L, Laporte JP, Gorin NC, Duhamel G. A prospective study of the value of bone marrow erythroid progenitor cultures in polycythemia. Blood 1986;68:996.
36. Golde DW, Bersch N, Cline MJ. Polycythemia vera: hormonal modulation of erythropoiesis in vitro. Blood 1977;49:399.
37. Zanjani ED, Lutton JD, Hoffman R, Wasserman LR. Erythroid colony formation by polycythemia vera bone marrow in vitro: dependence on erythropoietin. J Clin Invest 1977;59:841.
38. Eaves CJ, Eaves AC. Erythropoietin (Ep) dose-response curves for three classes of erythroid progenitors in normal human marrow and in patients with polycythemia vera. Blood 1978;52:1196.
39. Casadevall N, Vainchenker W, Lacombe C, Vinci G, Chapman J, Breton-Gorius J, Varet B. Erythroid progenitors in polycythemia vera: Demonstration of their hypersensitivity to erythropoietin using serum free cultures. Blood 1982;59:447.
40. Eridani S, Dudley JM, Sawyer BM, Pearson TC. Erythropoietic colonies in a serum-free system: results in primary proliferative polycythaemia and thrombocythaemia. Br J Haematol 1987;67:387.
41. Yoshimura A, Longmore G, Lodish HF. Point mutation in the exoplasmic domain of the erythropoietin receptor resulting in hormone-independent activation and tumorigenicity. Nature 1990;348:647.
42. Watowitch SS, Yoshimura A, Longmore GD, Hilton DJ, Yoshimura Y, Lodish, HF. Homodimerization and constitutive activation of the erythropoietin receptor. Proc Natl Acad Sci USA 1992;89:2140.
43. Hess G, Rose P, Gamm H, Papadileris S, Huber C, Seliger, B. Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera. Br J Haematol 1994;88:794.
44. Mittelmann M, Gardyn, J, Carmel M, Malovani H, Barak Y, Nir U. Analysis of the erythropoietin receptor gene in patients with myeloproliferative and myelodysplastic syndromes. Leuk Res 1996;20:459.
45. White HE, Orchard K, Maclean N, Boyd MT, Oscier DG. Sequencing of the erythropoietin receptor cDNA from endogenous erythroid colonies in patients with myeloproliferative diseases [abstract]. Br J Haematol 1994;87:141.
46. Percy MJ, Winter PC, Lappin, TRJ, McMullin, MF. Screening for erythropoietin receptor mutations in patients with myeloproliferative disorders [abstract]. Exp Hematol 1995;23:765.
47. Le Couedic J-P, Mitjavila M-T, Villeval J-L, Feger F, Gobert S, Mayeux P, Casadevall N, Vainchenker W. Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. Blood 1996;87:1502.
48. Correa PN, Eskinazi D, Axelrad AA. Circulating erythroid progenitors in polycythemia vera are hypersensitive to insulin-like growth factor-1 in vitro: studies in an improved serum-free medium. Blood 1994;83: 99.
49. Dai CH, Krantz SB, Dessypris EN, Means RT, Horn ST, Gilbert HS. Polycythemia vera II. Hypersensitivity of bone marrow erythroid. granulocyte-macrophage amd megakaryocyte progenitor cells to interleukin-3 and granulocyte-macrophage colony-stimulating factor. Blood 1992;80:891.
50. Hinshelwood S, Bench AJ, Green AR. Pathogenesis of polycythaemia vera. Blood Rev 1997;11:224.
51. Silva M, Richard C, Benito A, Sanz C, Ollala I, Fernandez-Luna JL. Expression of Bcl-x in erythroid precursors from patients witn polycythemia. N Eng J Med 1998;338:564.
52. Moliterno AR, Hankins D, Spivak JL. Impaired expression of the thrombopoietin receptor by platelets from patients with polycythemia vera. N Eng J Med 1998;338:572.
53. White H, Boyd M, Tiller M, Orchard K, Maclean N, Oscier DG. Erythropoietin receptor mutations in patients with thrombocytosis, ring siderblasts and erythopoietin independent BFUE [abstract]. Br J Haematol 1995;89:36.
54. Dianzani I, Garelli E, Dompe C, Cresenzio N, Locatelli F, Schiliro G, Castaman G, Bagnara GP, Olivieri NF, Gabutti V, Ramenghi U. Mutations in the erythropoietin receptor are not a common cause of Diamond-Blackfan anemia. Blood 1996;87:2568.
55. Wasserman LR, Berk PD, Berlin NI, editors. Polycythemia vera and the myeloproliferative diseases. Ed 1. Philadelphia: W.B. Saunders; 1995. Chap. 3. p 26.
56. de la Chapelle A, Traskelin A-L, Juvonen E. Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci USA 1993;90:4495.
57. Sokol L, Luhovy M, Guan Y, Prchal JF, Semenza GL, Prchal JT. Primary familial polycythemia: frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood 1995;86:15.
58. Kralovics R, Sokol L, Tze L, Guan Y, Prchal JF, Prchal JT. Absence of polycythemia phenotype in a child in PFCP family with Epo receptor mutation [abstract]. Blood 1995;86S:18a.
59. Furukawa T, Narita M, Sakaue M, Otsuka T, Kuroha T, Masuko M, Azegami T, Kishi K, Takahashi M, Utsumi J, Koike T, Aizawa Y. Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor. Br J Haematol 1997;99:222.
60. Kralovics R, Indrak K, Stopka T, Berman B, Prchal JF, Prchal JT. Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythaemias. Blood 1997;90:2057.
61. Kralovics R, Divoka M, Stopka T, Prchal JT. Low frequency of erythropoietin receptor gene mutations in subjects with primary familial and congenital polycythemia [abstract]. Blood 1997;90S:12a.
62. Arcasoy MO, Degar BA, Harris KW, Forget BG. Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. Blood 1997;89:4628.
63. Percy MJ, McMullin MF, Roques AWW, Westwood NB, Acharya J, Hughes AE, Lappin TRJ, Pearson TC. Erythrocytosis due to a mutation in the erythropoietin receptor gene. Br J Haematol 1998;100:407.
64. Prchal JT. Primary polycythemias. Curr Opin Hematol 1995;2:146.
65. Sokal L, Prchal JF, D'Andrea A, Rado TA, Prchal JT. Mutation in the negative regulatory element of the erythropietin receptor gene in a case of sporadic primary polycythemia. Exp Hematol 1994;22:447.
66. Arcasoy MO, Harris KW, Degar BA, Forget BG. Prolonged STAT5 activity associated with a naturally occurring truncation mutation of the human erythropoietin receptor [abstract]. Blood 1996;88:53a.
67. Sergeyeva A, Gordeuk VF, Tokarev YN, Sokol L, Prchal JF, Prchal JT. Congenital polycythemia in Chuvashia. Blood 1997;89:2148.
68. Huang LE, Ho V, Arany Z, Krainc D, Galson D, Tendler D, Livingston DM, Bunn HF. Erythropoietin gene regulation depends on heme-dependent oxygen sensing and assembly of interacting transcription factors. Kidney International 1997;51:548.
69. Percy MJ, McMullin MF, Lappin TRJ. Sequence analysis of the 3′ hypoxia-responsive element of the human erythropoietin gene in patients with erythrocytosis. Biochem Mol Med 1997;62:132.
70. Blanchard KL, Acquaviva AM, Galson DL, Bunn HF. Hypoxic induction of the human erythropoietin gene: cooperation between the promoter and enhancer, each of which contains steroid receptor response elements. Mol Cell Biol 1992;12:5373.
71. Guillemin K, Krasnow MA. The hypoxic response: huffing and HIF-ing. Cell 1997;89:9.