Biosynthesis of FVIII in megakaryocytic cells: Improved production and biochemical characterization

British Journal of Haematology

Volumn 127, Issue 5, 2004, Pages 568-575

  Rodriguez, Marie Hélène ^a   Plantier, Jean Luc ^a   Enjolras, Nathalie ^a   Réa, Muriel ^a   Leboeuf, Marylène ^b   Uzan, Georges ^b   Négrier, Claude ^a  

^a UNIVERSITÉ LYON 1   (France)

^b INSERM   (France)

Author keywords

Factor VIII; Glycoprotein IIb promoter; Haematopoietic cell line; Haemophilia; Megakaryocytes

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; GLYCOPROTEIN IIB; RECOMBINANT BLOOD CLOTTING FACTOR 8; THROMBIN;

ARTICLE; BLOOD VESSEL INJURY; CELL LINEAGE; CONTROLLED STUDY; DNA MODIFICATION; GENE SEQUENCE; GENE TARGETING; GENE THERAPY; GLYCOSYLATION; HEMATOPOIETIC STEM CELL; HEMOPHILIA A; HEMOSTASIS; HUMAN; HUMAN CELL; INTRON; MEGAKARYOCYTE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; THROMBOCYTE ACTIVATION; TRANSGENE;

BIOREACTORS; BLOTTING, WESTERN; CELL LINE; CHLORATES; FACTOR VIII; FACTOR VIIIA; GENE THERAPY; HEMOPHILIA A; HUMANS; IMMUNOPRECIPITATION; INTEGRIN ALPHA2; MEGAKARYOCYTES; MEMBRANE GLYCOPROTEINS; PROMOTER REGIONS (GENETICS); TRANSFECTION; TRANSGENES;

EID: 10344244472     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.05244.x     Document Type: Article

References (38)

1. Aiuti, A., Slavin, S., Aker, M., Ficara, F., Deola, S., Mortellaro, A., Morecki, S., Andolfi, G., Tabucchi, A., Carlucci, F., Marinello, E., Cattaneo, F., Vai, S., Servida, P., Miniero, R., Roncarolo, M.G. & Bordignon, C. (2002) Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science, 296, 2410-2413.
2. Baeuerle, P.A. & Huttner, W.B. (1986) Chlorate-a potent inhibitor of protein sulfation in intact cells. Biochemical and Biophysical Research Communications, 141, 870-877.
3. Cavazzana-Calvo, M., Hacein-Bey, S., de Saint Basile, G., Gross, F., Yvon, E., Nusbaum, P., Selz, F., Hue, C., Certain, S., Casanova, J.L., Bousso, P., Deist, F.L. & Fischer, A. (2000) Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science, 288, 669-672.
4. Challita, P.M. & Kohn, D.B. (1994) Lack of expression from a retroviral vector after transduction of murine hematopoietic stem cells is associated with methylation in vivo. Proceedings of the National Academy of Sciences of the United States of America, 91, 2567-2571.
5. Connelly, S., Gardner, J.M., McClelland, A. & Kaleko, M. (1996) High-level tissue-specific expression of functional human factor VIII in mice. Human Gene Therapy, 7, 183-195.
6. Dwarki, V.J., Belloni, P., Nijjar, T., Smith, J., Couto, L., Rabier, M., Clift, S., Berns, A. & Cohen, L.K. (1995) Gene therapy for hemophilia A: production of therapeutic levels of human factor VIII in vivo in mice. Proceedings of the National Academy of Sciences of the United States of America, 92, 1023-1027.
7. Eaton, D., Rodriguez, H. & Vehar, G.A. (1986) Proteolytic processing of human factor VIII. Correlation of specific cleavages by thrombin, factor Xa, and activated protein C with activation and inactivation of factor VIII coagulant activity. Biochemistry, 25, 505-512.
8. Enjolras, N., Rodriguez, M.H., Plantier, J.L., Maurice, M., Attali, O. & Negrier, C. (1999) The three in-frame ATG, clustered in the translation initiation sequence of human factor IX gene, are required for an optimal protein production. Thrombosis and Haemostasis, 82, 1264-1269.
9. Furie, B. & Furie, B.C. (1988) The molecular basis of blood coagulation. Cell, 53, 505-518.
10. Greenberg, S.M., Rosenthal, D.S., Greeley, T.A., Tantravahi, R. & Handin, R.I. (1988) Characterization of a new megakaryocytic cell line: the Dami cell. Blood, 72, 1968-1977.
11. High, K.A. (2004) Clinical gene transfer studies for hemophilia B. Seminars of Thrombosis and Haemostasis, 30, 257-267.
12. Hoeben, R.C., Einerhand, M.P., Briet, E., van Ormondt, H., Valerio, D. & van der Eb, A.J. (1992) Toward gene therapy in haemophilia A: retrovirus-mediated transfer of a factor VIII gene into murine haematopoietic progenitor cells. Thrombosis and Haemostasis, 67, 341-345.
13. Ill, C.R., Yang, C.Q., Bidlingmaier, S.M., Gonzales, J.N., Burns, D.S., Bartholomew, R.M. & Scuderi, P. (1997) Optimization of the human factor VIII complementary DNA expression plasmid for gene therapy of hemophilia A. Blood Coagulation & Fibrinolysis, 8, S23-S30.
14. Jallat, S., Perraud, F., Dalemans, W., Balland, A., Dieterle, A., Faure, T., Meulien, P. & Pavirani, A. (1990) Characterization of recombinant human factor IX expressed in transgenic mice and in derived trans-immortalized hepatic cell lines. EMBO Journal, 9, 3295-3301.
15. Kaufman, R.J. (1998) Post-translational modifications required for coagulation factor secretion and function. Thrombosis and Haemostasis, 79, 1068-1079.
16. Kurachi, S., Hitomi, Y., Furukawa, M. & Kurachi, K. (1995) Role of intron I in expression of the human factor IX gene. Journal of Biological Chemistry, 270, 5276-5281.
17. Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 227, 680-685.
18. Lepage, A., Leboeuf, M., Cazenave, J.P., de la Salle, C., Lanza, F. & Uzan, G. (2000) The alpha(IIb)beta(3) integrin and GPIb-V-IX complex identify distinct stages in the maturation of CD34(+) cord blood cells to megakaryocytes. Blood, 96, 4169-4177.
19. Leyte, A., van Schijndel, H.B., Niehrs, C., Huttner, W.B., Verbeet, M.P., Mertens, K. & van Mourik, J.A. (1991) Sulfation of Tyr1680 of human blood coagulation factor VIII is essential for the interaction of factor VIII with von Willebrand factor. Journal of Biological Chemistry, 266, 740-746.
20. Lind, P., Larsson, K., Spira, J., Sydow-Backman, M., Almstedt, A., Gray, E. & Sandberg, H. (1995) Novel forms of B-domain-deleted recombinant factor VIII molecules. Construction and biochemical characterization. European Journal of Biochemistry, 232, 19-27.
21. Michnick, D.A., Pittman, D.D., Wise, R.J. & Kaufman, R.J. (1994) Identification of individual tyrosine sulfation sites within factor VIII required for optimal activity and efficient thrombin cleavage. Journal of Biological Chemistry, 269, 20095-20102.
22. Nakai, H., Herzog, R.W., Hagstrom, J.N., Walter, J., Rung, S.H., Yang, E.Y., Tai, S.J., Iwaki, Y., Kurtzman, G.J., Fisher, K.J., Colosi, P., Couto, L.B. & High, K.A. (1998) Adeno-associated viral vector-mediated gene transfer of human blood coagulation factor IX into mouse liver. Blood, 91, 4600-4607.
23. Pastore, L., Morral, N., Zhou, H., Garcia, R., Parks, R.J., Kochanek, S., Graham, F.L., Lee, B. & Beaudet, A.L. (1999) Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors. Human Gene Therapy, 10, 1773-1781.
24. Phillips, D.R., Charo, I.F., Parise, L.V. & Fitzgerald, L.A. (1988) The platelet membrane glycoprotein IIb-IIIa complex. Blood, 71, 831-843.
25. Pittman, D.D., Wang, J.H. & Kaufman, R.J. (1992) Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII. Biochemistry, 31, 3315-3325.
26. Plantier, J.L., Rodriguez, M.H., Enjolras, N., Attali, O. & Negrier, C. (2001) A factor VIII minigene comprising the truncated intron I of factor IX highly improves the in vitro production of factor VIII. Thrombosis and Haemostasis, 86, 596-603.
27. Powell, J.S., Ragni, M.V., White, G.C., II, Lusher, J.M., Hillman-Wiseman, C., Moon, T.E., Cole, V., Ramanathan-Girish, S., Roehl, H., Sajjadi, N., Jolly, D.J. & Hurst, D. (2003) Phase 1 trial of FVIII gene transfer for severe hemophilia A using a retroviral construct administered by peripheral intravenous infusion. Blood, 102, 2038-2045.
28. Rick, M.E., Walsh, C.E. & Key, N.S. (2003) Congenital bleeding disorders. Hematology 2003, American Society of Hematology, Education program book, 559-574.
29. Rodriguez, M.H., Enjolras, N., Plantier, J.L., Réa, M., Leboeuf, M., Uzan, G., Bordet, J.C. & Négrier, C. (2002) Expression of coagulation Factor IX in a Haematopoietic cell line. Thrombosis and Haemostasis, 87, 366-373.
30. Rotblat, F., O'Brien, D.P., O'Brien, F.J., Goodall, A.H. & Tuddenham, E.G. (1985) Purification of human factor VIII:C and its characterization by Western blotting using monoclonal antibodies. Biochemistry, 24, 4294-4300.
31. Roth, D.A., Tawa, N.E.J., O'Brien, J.M., Treco, D.A. & Selden, R.F. (2001) Nonviral transfer of the gene encoding coagulation factor VIII in patients with severe hemophilia A. New England Journal of Medecine, 344, 1735-1742.
32. Sandberg, H., Almstedt, A., Brandt, J., Castro, V.M., Gray, E., Holmquist, L., Lewin, M., Oswaldsson, U., Mikaelsson, M., Jankowski, M.A., Bond, M. & Scoble, H.A. (2001) Structural and functional characterization of B-domain deleted recombinant factor VIII. Seminars in Hematology, 38, 4-12.
33. Shi, Q., Wilcox, D.A., Fahs, S.A., Kroner, P.A. & Montgomery, R.R. (2003) Expression of human factor VIII under control of the platelet-specific alphaIIb promoter in megakaryocytic cell line as well as storage together with VWF. Molecular Genetics and Metabolism, 79, 25-33.
34. Uzan, G., Prenant, M., Prandini, M.H., Martin, F. & Marguerie, G. (1991) Tissue-specific expression of the platelet GPIIb gene. Journal of Biological Chemistry, 266, 8932-8939.
35. Wang, J.M., Zheng, H., Sugahara, Y., Tan, J., Yao, S.N., Olson, E. & Kurachi, K. (1996) Construction of human factor IX expression vectors in retroviral vector frames optimized for muscle cells. Human Gene Therapy, 7, 1743-1756.
36. Wilcox, D.A., Olsen, J.C., Ishizawa, L., Griffith, M. & White, G.C., II (1999) Integrin alphaIIb promoter-targeted expression of gene products in megakaryocytes derived from retrovirus-transduced human hematopoietic cells. Proceedings of the National Academy of Sciences of the United States of America, 96, 9654-9659.
37. Wilcox, D.A., Shi, Q., Nurden, P., Haberichter, S.L., Rosenberg, J.B., Johnson, B.D., Nurden, A.T., White, G.C., II & Montgomery, R.R. (2003) Induction of megakaryocytes to synthesize and store a releasable pool of human factor VIII. Journal of Thrombosis and Haemostasis, 1, 2477-2489.
38. Yarovoi, H.V., Kufrin, D., Eslin, D.E., Thornton, M.A., Haberichter, S.L., Shi, Q., Zhu, H., Camire, R., Fakharzadeh, S.S., Kowalska, M.A., Wilcox, D.A., Sachais, B.S., Montgomery, R.R. & Poncz, M. (2003) Factor VIII ectopically expressed in platelets: efficacy in hemophilia A treatment. Blood, 102, 4006-4013.