The PIG-A mutation and absence of glycosylphosphatidylinositol-linked proteins do not confer resistance to apoptosis in paroxysmal nocturnal hemoglobinuria

Blood

Volumn 92, Issue 7, 1998, Pages 2541-2550

  Ware, Russell E ^a   Nishimura, Jun Ichi ^b   Anthony Moody, M ^b   Smith, Clay ^b   Rosse, Wendell F ^b   Howard, Thad A ^b  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSYLPHOSPHATIDYLINOSITOL; MEMBRANE PROTEIN;

ADOLESCENT; ADULT; AGED; APOPTOSIS; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FLOW CYTOMETRY; GENE MUTATION; GRANULOCYTE; HEMATOPOIESIS; HUMAN; HUMAN CELL; MALE; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; STEM CELL;

EID: 0032189025     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.7.2541.2541_2541_2550     Document Type: Article

References (62)

1. Rosse WF, Parker CJ: Paroxysmal nocturnal hemoglobinuria. Clin Haematol 14:105, 1985
2. Ware RE, Hall SE, Rosse WE: Paroxysmal nocturnal hemoglobin-uria with onset in childhood and adolescence. N Engl J Med 325:991, 1991
3. Armstrong C, Schubert J, Ueda E, Knez JJ, Gelperin D, Hirose S, Silber R, Hollan S, Schmidt RE, Medof ME: Affected paroxysmal nocturnal hemoglobinuria T lymphocytes harbor a common defect in assembly of N-acetyl-D-glucosamine inositol phospholipid corresponding to that in class A Thy-1-murine lymphoma mutants. J Biol Chem 267:25347, 1992
4. Takahaski M, Takeda J, Hirose S, Hyman R, Inoue N, Miyata T, Ueda E, Kitani T, Medof ME, Kinoshita T: Deficient biosynthesis of N-Acetylglucosaminyl-phosphatidyl-inositol, the first intermediate of glycosyl phosphatidyl-inositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria. J Exp Med 177:517, 1993
5. Hillmen P, Bessler M, Mason PJ, Watkins WM, Luzzatto L: Specific defect in N-acetylglucosamine incorporation in the biosynthesis of the glycosylphosphatidylinositol anchor in cloned cell lines from patients with paroxysmal nocturnal hemoglobinuria. Proc Natl Acad Sci USA 90:5272, 1993
6. Norris J, Hall S, Ware RE, Kamitani T, Chang H-M, Yeh E, Rosse WF: Glycosyl phosphatidylinositol anchor synthesis in paroxysmal nocturnal hemoglobinuria: Partial or complete defect in an early step. Blood 83:816, 1994
7. Rosse WF: Phosphatidylinositol-linked proteins and paroxysmal nocturnal hemoglobinuria. Blood 75:1595, 1990
8. Rosse WF: The glycolipid anchor of membrane surface proteins. Semin Hematol 30:219, 1993
9. Mahoney JF, Urakaze M, Hall S, DeGasperi R, Chang H-M, Sugiyama E, Warren CD, Borowitz M, Nicholson-Weller A, Rosse WF, Yeh ETH: Defective glycosylphosphatidyl-inositol anchor synthesis in paroxysmal nocturnal hemoglobinuria granulocytes. Blood 79:1400, 1992
10. Tseng JE, Hall SE, Howard TA, Ware RE: Phenotypic and functional analysis of lymphocytes in paroxysmal nocturnal hemoglobinuria. Am J Hematol 50:224, 1995
11. Ware RE, Rosse WF, Hall SE: Immunophenotypic analysis of reticulocytes in paroxysmal nocturnal hemoglobinuria. Blood 86:1586, 1995
12. Takeda J, Miyata T, Kawagoe K, lida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T: Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell 73:703, 1993
13. Miyata T, Yamada N, Iida Y, Nishimura J, Takeda J, Kitani T, Kinoshita T: Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria. N Engl J Med 330:249, 1994
14. Bessler M, Mason PJ, Hillmen P, Miyata T, Yamada N, Takeda J, Luzzatto L, Kinoshita T: Paroxysmal nocturnal hemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. EMBO J 13:110, 1994
15. Ware RE, Rosse WF, Howard TA: Mutations within the PIG-A gene in patients with paroxysmal nocturnal hemoglobinuria. Blood 83:4218, 1994
16. Bessler M, Mason PJ, Hillmen P, Luzzatto L: Mutations in the PIG-A gene causing partial deficiency of GPI-linked surface proteins (PNH II) in patients with paroxysmal nocturnal hemoglobinuria. Br J Haematol 87:863, 1994
17. Rosse WF, Ware RE: The molecular basis of paroxysmal nocturnal hemoglobinuria. Blood 86:3277, 1995
18. Lewis SM, Dacie JV: The aplastic anaemia-paroxysmal nocturnal haemoglobinuria syndrome. Br J Haematol 13:236, 1967
19. Young NS: The problem of clonality in aplastic anemia: Dr Dameshek's riddle, restated. Blood 79:1385, 1992
20. de Planque MM, Bacigalup A, Wursch A, Hows JM, Devergie A, Frickhofen N, Brand A, Nissen C: Long-term follow-up of severe aplastic anaemia patients treated with antithymocyte globulin, Br J Haematol 73:121, 1989
21. Griscelli-Bennaceur A, Gluckman E, Scrobohaci ML, Jonveaux P, Vu T, Bazarbachi A, Carosella ED, Sigaux F, Socie G: Aplastic anemia and paroxysmal nocturnal hemoglobinuria: Search for a patho-genetic link. Blood 85:1354, 1995
22. Nakakuma H, Nagakura S, Iwamoto N, Kawaguchi T, Hidaka M, Horikawa K, Kagimoto T, Shido T, Takatsuki K: Paroxysmal nocturnal hemoglobinuria clone in bone marrow of patients with pancytopenia. Blood 85:1371,1995
23. Hall SE, Rosse WF: The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood 87:5332, 1996
24. Bessler M, Mason P, Hillmen P, Luzzatto L: Somatic mutations and cellular selection in paroxysmal nocturnal hemoglobinuria. Lancet 343:951, 1994
25. Brodsky RA, Vala MS, Barber JP, Medof ME, Jones RJ: Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria. Proc Natl Acad Sci USA 94:8756, 1997
26. Miyata T, Takeda J, Iida Y, Yamada N, Inoue N, Takahashi M, Maeda K, Kitani T, Kinoshita T: Cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science 259:1318, 1993
27. Mavilio F, Ferrari G, Rossini S, Nobili N, Bonini C, Casorati G, Traversari C, Bordignon C: Peripheral blood lymphocytes as target cells of retroviral vector-mediated gene transfer. Blood 83:1988, 1994
28. Sadelain M, Wang CH, Antoniou M, Grosveld F, Mulligan RC: Generation of a high-titer retroviral capable of expressing high levels of the human beta-globin gene. Proc Natl Acad Sci USA 92:6728, 1995
29. Dwarki V, Belloni P, NijjarT, Smith J, Couto L, Mireille R, Clift S, Berns A, Cohen L: Gene therapy for hemophilia: Production of therapeutic levels of human factor VIII in vivo in mice. Proc Natl Acad Sci USA 92:1023, 1995
30. McCowage GB, Phillips KL, Gentry TL, Hull S, Kurtzberg J, Gilboa E, Smith C: Multiparameter fluorescence activated cell sorting analysis of retroviral vector gene transfer into primitive umbilical cord blood cells. Exp Hematol 26:288, 1998
31. Nishimura J, Phillips KL, Ware RE, Hall S, Howard TA, Wilson L, Gentry TL, Howrey R, Galardi C, Kinoshita T, Gilboa E, Rosse WF, Smith CA: Efficient retro virus-mediated PIG-A gene transfer and stable restoration of GPI-anchored protein expression in PNH. Blood 90:274a, 1997(abstr, suppl 1)
32. Kim DG, Kang HM, Jang SK, Shin HS: Construction of a bifunctional mRNA in the mouse by using the internal ribosomal entry site of the encephalomyocarditis virus. Mol Cell Biol 12:3636, 1992
33. Rudoll T, Phillips K, Lee SW, Hull S, Gasper O, Sucgang N, Gilboa E, Smith C: High efficiency retroviral vector mediated gene transfer into human peripheral blood CD4+ T-lymphocytes. Gene Ther 3:695, 1996
34. Dransfield I, Buckle A-M, Savill JS, McDowall A, Haslett C, Hogg N: Neutrophil apoptosis is associated with a reduction in CD 16 (Fc-γRIII) expression. J Immunol 153:1254, 1994
35. Nicoletti I, Migliorati G, Pagliacci MC, Grignani, Riccardi C: A rapid and simple method for measuring thymocyte apoptosis by propidium iodide staining and flow cytometry. J Immunol Methods 139:271, 1991
36. Darzynkiewicz Z, Bruno S, del Bino G, Corczyca W, Hotz MA, Lassota P, Traganos F: Features of apoptotic cells measured by flow cytometry. Cytometry 13:795, 1992
37. Koopman G, Reutlingsperger CPM, Kuijten GAM, Keehnen RMJ, Pals ST, van Oers MHJ: Annexin V for flow cytometric detection of phosphatidyl serine expression on B cells undergoing apoptosis. Blood 84:1415, 1994
38. Vermes I, Haanen C, Steffens-Nakken H, Reutlingsperger CPM: A novel assay for apoptosis flow cytometric detection of phosphatidylserine expression on early apoptotic cells using labelled annexin V. J Immunol Methods 184:39, 1995
39. Purow DB, Howard TA, Heumayer S, Ware RE: Genetic instability as the etiology of acquired somatic Piga mutations in paroxysmal nocturnal hemoglobinuria. Blood 88:304a, 1996 (abstr, suppl 1)
40. Endo M, Ware RE, Vreeke TM, Singh SP, Howard TA, Tomita A, Holguin MH, Parker CJ: Moiecuiar basis of the heterogeneity of expression of glycosyl phosphatidylinositol anchored proteins in paroxysmal nocturnal hemoglobinuria. Blood 87:2546, 1996
41. Nishimura J, Inoue N, Wada H, Ueda E, Pramoonjago P, Hirota T, Machii T, Kageyama T, Kanamaru A, Takeda J, Kinoshita T, Kitani T: A patient with paroxysmal nocturnal hemoglobinuria bearing four independent PIG-A mutant clones. Blood 89:3470, 1997
42. Iwamoto N, Kawaguchi T, Horikawa K, Nagakura S, Kagimoto T, Suda T, Takatsuki K, Nakakuma H: Preferential hematopoiesis by paroxysmal nocturnal hemoglobinuria clone engrafted in SCID mice. Blood 87:4944, 1996
43. Moore JG, Frank MM, Muller-Eberhard JH, Young NS: Decayaccelerating factor is present on paroxysmal nocturnal hemoglobinuria erythroid progenitors and lost during erythropoiesis in vitro. J Exp Med 162:1182, 1985
44. Nishimura T, Kanamaru A, Kakishita E, Nagai K: Flow cytometric analysis of homologous restriction factor 20KD (HRF20) expression on progeny cells during differentiation from haemopoietic progenitors in paroxysmal nocturnal haemoglobinuria. Br J Haematol 90:293, 1995
45. Pendleton AL, Ware RE, Kurtzberg J, Burnett A, Rosse WF: The hematopoietic defect in paroxysmal nocturnal hemoglobinuria assessed by long-term bone marrow culture. Blood 86:131a, 1995 (abstr, suppl 1)
46. Maciejewski JP, Sloand EM, Sato T, Anderson S, Young NS: Impaired hematopoiesis in paroxysmal nocturnal hemoglobinuria/ aplastic anemia is not associated with a selective proliferative defect in the glycosyiphosphatidylinositof-anchored protein-deficient clone. Blood 89:1173, 1997
47. Kawagoe K, Kitamura D, Okabe M, Taniuchi I, Ikawa M, Watanabe T, Kinoshita T, Takeda J: Glycosylphosphatidylinositol-anchor-deficient mice: Implications for clonal dominance of mutant cells in paroxysmal nocturnal hemoglobinuria. Blood 87:3600, 1996
48. Rosti V, Trammel G, Soares V, Pandolfi PP, Luzzatto L, Bessler M: Murine embryonic stem cells without pig-a gene activity are competent for hematopoiesis with the PNH phenotype but not for clonal expansion. J Clin Invest 100:1028, 1997
49. Horikawa K, Nakakuma H, Kawaguchi T, Iwamoto N, Nagakura S, Kagimoto T, Takatsuke K: Apoptosis resistance of blood cells from patients with paroxysmal nocturnal hemoglobinuria, aplastic anemia, and myelodysplastic syndrome. Blood 90:2716, 1997
50. Adachi S, Kubota M, Lin YW, Okuda A, Matsubara K, Waka- zono Y, Hirota H, Kuwakado K, Akiyama Y: In vivo administration of granulocyte colony-stimulating factor promotes neutrophil survival in vitro. Eur J Haematol 53:129, 1994
51. Pericle F, Kiu JH, Diaz JI, Blanchard DK, Wei S, Forni G, Djeu JY: Interleukin-2 prevention of apoptosis in human neutrophils. Eur J Immunol 24:440, 1994
52. Cox G: Glucocorticoid treatment inhibits apoptosis in human neutrophils. J Immunol 154:4719, 1995
53. Rafiee P. Lee JIC Leung C-C, Raffin TA: TNF-α induces tyrosine phosphorylation of mitogen-activated protein kinase in adherent human neutrophils. J Immunol 154:4785, 1995
54. Boise LH, Minn AJ, Noel PJ, June CH, Accavitti MA, Lindsten T, Thompson CB: CD28 costimulation can promote T cell survival by enhancing the expression of Bcl-xL. Immunity 3:87, 1995
55. Gribben JG, Freeman GJ, Boussiotis VA, Rennert P, Jellis CL, Greenfield E, Barber M, Restivo VA, Ke X, Gray GS, Nadler LM: CTLA4 mediates antigen-specific apoptosis of human T cells. Proc Natl Acad Sci USA 92:811, 1995
56. Iwai K. Miyawaki T, Takizawa T, Konno A, Ohta K, Yachie A, Seki H, Taniguchi N: Differential expression of bcl-2 and susceptibility to anti-Fas-mediated cell death in peripheral blood lymphocytes, monocytes, and neutrophils. Blood 84:1201, 1994
57. Lagasse E, Weissman IL: bel-2 inhibits apoptosis of neutrophils but not their engulfment by macrophages. J Exp Med 179:1047, 1994
58. Yousefi S, Green DR, Blaser K, Simon H-U: Protein-tyrosine phosphorylation regulates apoptosis in human eosinophils and neutrophils. Proc Natl Acad Sci USA 91:10868, 1994
59. Homburg CHE, de Haas M, von dem Borne AEGK, Verhoeven AJ, Reutelingsperger, Roos D: Human neutrophils lose their surface FcgRIII and acquire annexin V binding sites during apoptosis in vitro. Blood 85:532,1995
60. Hsieh S-C, Huang M-H, Tsai C-Y, Tsai Y-Y, Tsai S-T, Sun K-H, Yu H-S, Han S-H. Yu C-L: The expression of genes modulating programmed cell death in normal human polymorphonuclear neutro-phils. Biochem Biophys Res Commun 233:700, 1997
61. Raza R, Gezer S, Mundle S, Gao X-Z. Alvi S, Borok R, Rifkin S, Iftikhar A, Shetty V, Parcharidou A, Loew J, Marcus B, Khan Z, Chaney C. Showel J, Gregory S, Preisler H: Apoptosis in bone marrow biopsy samples involving stromal and hematopoietic cells in 50 patients with myelodysplastic syndromes. Blood 86:268, 1995
62. Raza A. Mundle S, Iftikhar A, Gregory S, Marcus B, Khan Z, Alvi S, Shetty V, Dameron S, Wright V. Adler S, Loew JM, Shott S, Ali SN, Preisler H: Simultaneous assessment of cell kinetics and programmed cell death in bone marrow biopsies of myelodysplastics reveals extensive apoptosis as the probable basis for ineffective hematopoiesis. Am J Hematol 48:143, 1995