Mutation of the surface-exposed amino acid Trp2313 to Ala in the FVIII C2 domain results in defective secretion of the otherwise functional protein

British Journal of Haematology

Volumn 125, Issue 5, 2004, Pages 629-637

  Schatz, Simone M ^a   Zimmermann, Klaus ^a   Hasslacher, Meinhard ^a   Kerschbaumer, Randolf ^a   Dockal, Michael ^a   Gritsch, Herbert ^a   Turecek, Peter L ^a   Schwarz, Hans P ^a   Dorner, Friedrich ^a   Scheiflinger, Friedrich ^a  

^a BAXTER BIOSCIENCE   (Austria)

Author keywords

B domain deleted factor VIII; C2 domain; Factor VIII; Haemophilia A; Secretion

Indexed keywords

ALANINE; BLOOD CLOTTING FACTOR 8; PHOSPHATIDYLSERINE; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; CRYSTAL STRUCTURE; GENE MUTATION; HEMOPHILIA A; HYDROPHOBICITY; LABELING INDEX; NONHUMAN; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN SECRETION; PROTEIN STRUCTURE;

ALANINE; BLOTTING, WESTERN; CELL LINE; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FACTOR VIII; FACTOR XA; HUMANS; MUTATION; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; TRYPTOPHAN; VON WILLEBRAND FACTOR;

EID: 2942522566     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.04959.x     Document Type: Article

References (34)

1. Andersson, L.O., Forsman, N., Huang, K., Larsen, K., Lundin, A., Pavlu, B., Sandberg, H., Sewerin, K. & Smart, J. (1986) Isolation and characterization of human factor VIII: molecular forms in commercial factor VIII concentrate, cryoprecipitate, and plasma. Proceedings of the National Acadamy of Sciences of the United States of America, 83, 2979-2983.
2. Bi, L., Lawler, A.M., Antonarakis, S.E., High, K.A., Gearhart, J.D. & Kazazian, Jr, H.H. (1995) Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A [letter]. Nature Genetics, 10, 119-121.
3. Doms, R.W., Russ, G. & Yewdell, J.W. (1989) Brefeldin A redistributes resident and itinerant Golgi proteins to the endoplasmic reticulum. Journal of Cell Biology, 109, 61-72.
4. Dorner, A.J. & Kaufman, R.J. (1990) Analysis of synthesis, processing, and secretion of proteins expressed in mammalian cells. Methods in Enzymology, 185, 577-596.
5. Dorner, A.J., Bole, D.G. & Kaufman, R.J. (1987) The relationship of N-linked glycosylation and heavy chain-binding protein association with the secretion of glycoproteins. Journal of Cell Biology, 105, 2665-2674.
6. Foster, P.A., Fulcher, C.A., Houghten, R.A. & Zimmerman, T.S. (1990) Synthetic factor VIII peptides with amino acid sequences contained within the C2 domain of factor VIII inhibit factor VIII binding to phosphatidylserine. Blood, 75, 1999-2004.
7. Gilbert, G.E. & Arena, A.A. (1995) Phosphatidylethanolamine induces high affinity binding sites for factor VIII on membranes containing phosphatidyl-L-serine. Journal of Biological Chemistry, 270, 18500-18505.
8. Gilbert, G.E., Furie, B.C. & Furie, B. (1990) Binding of human factor VIII to phospholipid vesicles. Journal of Biological Chemistry, 265, 815-822.
9. Gilbert, G.E., Kaufman, R.J., Arena, A.A., Miao, H. & Pipe, S.W. (2002) Four hydrophobic amino acids of the factor VIII C2 domain are constituents of both the membrane-binding and von Willebrand factor-binding motifs. Journal of Biological Chemistry, 277, 6374-6381.
10. Herlitschka, S.E. (1994) Entwicklung eines Selektions/Amplifikations- markers und dessen Anwendung auf die Expression heterologer Proteine am Beispiel der Blutgerinnungsfaktoren II und VIII. Universität für Bodenkultur, Vienna.
11. Hope, M.J., Bally, M.B., Webb, G. & Cullis, P.R. (1985) Production of large unilamellar vesicles by a rapid extrusion procedere. Characterization of size distribution, trapped volume and ability to maintain a membrane potential. Biochimica et Biophysica Acta, 812, 55-65.
12. Kane, W.H. & Davie, E.W. (1988) Blood coagulation factors V and VIII: Structural and functional similarities and their relationship to hemorhagic and thrombolytic disorders. Blood, 71, 539-555.
13. Karlsson, R., Roos, H., Fägerstam, L. & Persson, B. (1994) Companion to methods in enzymology 6. Methods in Enzymology 6, 99.
14. Kaufman, R.J., Wasley, L.C. & Dorner, A.J. (1988) Synthesis, processing, and secretion of recombinant human factor VIII expressed in mammalian cells. Journal of Biological Chemistry, 263, 6352-6362.
15. Kemball-Cook, G., Tuddenham, E.G.D. & Wacey, A.I. (1998) The factor VIII structure and mutation resource site: HAMSTeRS version 4. Nucleic Acids Research, 26, 216-219.
16. Kozak, M. (1991) Structural features in eukaryotic mRNAs that modulate the initiation of translation. The Journal of Biological Chemistry, 266, 19867-19870.
17. Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 227, 680-685.
18. Leyte, A., Mertens, K., Distel, B., Evers, R.F., De Keyzer-Nellen, M.J., Groenen-Van Dooren, M.M., De Bruin, J., Pannekoek, H., Van Mourik, J.A. & Verbeet, M.P. (1989) Inhibition of human coagulation factor VIII by monoclonal antibodies. Mapping of functional epitopes with the use of recombinant factor VIII fragments. Biochemical Journal, 263, 187-194.
19. 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.
20. MacDonald, R.C., MacDonald, R.I., Menco, B.P., Takeshita, K., Subbarao, N.K. & Hu, L. (1991) Small-volume extrsion apparatus for preparation of large unilamellar vesicles. Biochimica et Biophysica Acta, 1061, 297-303.
21. McMullen, B.A., Fujikawa, K., Davie, E.W., Hedner, U. & Ezban, M. (1995) Locations of disulfide bonds and free cysteines in the heavy and light chains of recombinant human factor VIII (antihemophilic factor A). Protein Science, 4, 740-746.
22. Muchitsch, E.M., Turecek, P.L., Zimmermann, K., Pichler, L., Auer, W., Richter, G., Gritsch, H. & Schwarz, H.P. (1999) Phenotypic expression of murine hemophilia. Thrombosis and Haemostasis, 82, 1371-1373.
23. Nichols, W.C., Seligsohn, U., Zivelin, A., Terry, V.H., Hertel, C.E., Wheatley, M.A., Moussalli, M.J., Hauri, H.P., Ciavarella, N., Kaufman, R.J. & Ginsburg, D. (1998) Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell, 93, 61-70.
24. Pratt, K.P. (2000) Relating structure to function: the role of the C2 domain in factor VIII. Current Opinion in Drug Discovery and Developement, 3, 516-526.
25. Pratt, K.P., Shen, B.W., Takeshima, K., Davie, E.W., Fujikawa, K. & Stoddard, B.L. (1999) Structure of the C2 domain of human factor VIII at 1.5 A resolution. Nature, 402, 439-442.
26. Raut, S., Weller, L. & Barrowcliffe, T.W. (1999) Phospholipid binding of factor VIII in different therapeutic concentrates. British Journal of Haematology, 107, 323-329.
27. Saenko, E.L. & Scandella, D. (1995) A mechanism for inhibition of factor VIII binding to phospholipid by von Willebrand factor. Journal of Biological Chemistry, 270, 13826-13833.
28. Saenko, E.L., Shima, M., Rajalakshmi, K.J. & Scandella, D. (1994) A role for the C2 domain of factor VIII in binding to von Willebrand factor. Journal of Biological Chemistry, 269, 11601-11605.
29. Saenko, E.L., Shima, M., Gilbert, G.E. & Scandella, D. (1996) Slowed release of thrombin-cleaved factor VIII from von Willebrand factor by a monoclonal and a human antibody is a novel mechanism for factor VIII inhibition. Journal of Biological Chemistry, 271, 27424-27431.
30. Scandella, D., Gilbert, G. E., Shima, M., Nakai, H., Eagleson, C., Felch, M., Prescott, R., Rajalakshmi, K.J., Hoyer, L.W. & Saenko, E. (1995) Some factor VIII inhibitor antibodies recognize a common epitope corresponding to C2 domain amino acids 2248 through 2312, which overlap a phospholipid-binding site. Blood, 86, 1811-1819.
31. Stoilova-McPhie, S., Villoutreix, B.O., Mertens, K., Kemball-Cook, G. & Holzenburg, A. (2002) 3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography. Blood, 99, 1215-1223.
32. Toole, J.J., Pittman, D.D., Orr, E.C., Murtha, P., Wasley, L.C. & Kaufman, R.J. (1986) A large region (approximately equal to 95 kDa) of human factor VIII is dispensable for in vitro procoagulant activity. Proceedings of the National Acadamy of Sciences of the United States of America, 83, 5939-5942.
33. Turecek, P.L., Gritsch, H., Richter, G., Auer, W., Pichler, L. & Schwarz, H.P. (1997) Assessment of bleeding for the evaluation of therapeutic preparations in small animal models of antibody-induced hemophilia and von Willebrand disease. Thrombosis and Haemostasis, 77, 591-599.
34. Vehar, G.A., Keyt, B., Eaton, D., Rodriguez, H., O'Brien, D.P., Rotblat, F., Oppermann, H., Keck, R., Wood, W.I., Harkins, R.N. Tuddenham E.G.D., Lawn R.M., Capon D.J. (1984) Structure of human factor VIII. Nature, 312, 337-342.