A nonsense mutation in the GPIIb heavy chain (Ser 870 → stop) impairs platelet GPIIb-IIIa expression

British Journal of Haematology

Volumn 95, Issue 2, 1996, Pages 399-407

  Vinciguerra, C ^a   Khelif, A ^b   Alemany, M ^c   Morle, F ^d   Grenier, C ^a   Uzan, G ^c   Gulino, D ^c   Dechavanne, M ^a   Negrier, C ^a,e  

^a INSTITUT PASTEUR   (France)

^b FARHAT HACHED HOSPITAL   (Tunisia)

^c INSERM   (France)

^d CNRS   (France)

^e EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

Fibrinogen receptor; Glanzmann's thrombasthenia; Glycoprotein IIb; Integrin; Thrombocytopathy

Indexed keywords

FIBRINOGEN RECEPTOR; GLYCOPROTEIN IIB; INTEGRIN;

ADOLESCENT; ARTICLE; CASE REPORT; GENE MUTATION; GLANZMANN DISEASE; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; THROMBOCYTE; THROMBOCYTOPATHY;

EID: 0029842409     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1996.d01-1903.x     Document Type: Article

References (41)

1. Bennett, J.S., Kolodziej, M.A., Vilaire, G. & Ponez, M. (1993) Determinants of intracellular fate of truncated forms of the platelet glycoproteins IIb and IIIa. Journal of Biological Chemistry, 268, 3580-3585.
2. Bole, D.G., Hendershot, L.M. & Kearney, J.F. (1986) Posttranslational association of immunoglobulin heavy chain binding protein with nascent heavy chains in nonsecreting and secreting hybridomas. Journal of Cell Biology, 102, 1558-1566.
3. Bray, P.F., Rosa, J-P., Lingappa, V.R., Kan, Y.W. McEver. R.P. & Shuman, M.A. (1986) Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins Iib and IIIa. Proceedings of the National Academy of Sciences of the United States of America, 83, 1480-1484.
4. Burk, C.D., Newman, P.J., Lyman, S., Gill, J., Coller, B.S. & Poncz, M. (1991) A deletion in the gene for glycoprotein Ilb associated with Glanzmann's thrombasthenia. Journal of Clinical Investigation, 87, 270-276.
5. Chomczynski, P. & Sacchi, N. (1987) Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Analytical Biochemistry, 162, 156-159.
6. Dietz, H.C., Valle, D., Francomano, C.A., Kendzior, R.J., Pyeritz, R.E. & Cutting, G.R. (1993) The skipping of constitutive exons in vivo induced by nonsense mutations. Science, 259, 680-683.
7. Duperray, A., Berthier, R., Chagnon, E., Ryckwaert, J.J., Ginsberg, M., Plow, E. & Marguerie, G. (1987) Biosynthesis and processing of platelet GPIIb-IIIa in human megakaryocytes. Journal of Cell Biology, 104, 1665-1673.
8. Duperray, A., Troesch, A., Berthier, R., Chagnon, E., Frachet, P., Uzan, G. & Marguerie, G., (1989) Biosynthesis and assembly of platelet GPIIb-IIIa in human megakaryocytes: evidence that assembly between pro-GPIIb and GPIIIa is a prerequisite for expression of the complex on the cell surface. Blood, 74, 1603-1611.
9. Frachet, P., Duperray, A., Delachanal, E. & Marguerie, G. (1992) Role of the transmembrane and cytoplasmic domains in the assembly and surface exposure of the platelet integrin IIb-IIIa. Biochemistry, 31, 2408-2415.
10. George, J.N., Caen, J.P. & Nurden, A.T. (1990) Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood, 75. 1383-1385.
11. Gething, M.J. & Sambrook, J, (1992) Protein folding in the cell. Nature, 355, 33-45.
12. Gut, J.M., Xu. W.F., Wang, X.D., Wu. Q.Y., Chi. C.W. & Ruan, C.G. (1993) Identification of a nonsense mutation at amino acid 584-arginine of platelet glycoprotein Ilb in patients with tyPe I Glanzmann thrombasthenia. British Journal of Haematology, 83, 442-449.
13. Gulino, D., Martinez, P., Delachanal. E., Concord, E., Duperray, A., Alemany, M. & Marguerie, G. (1995) Expression and purification of a soluble functional form of the platelet αIlbβ3 integrin. European Journal of Biochemistry, 227, 108-115,
14. Haas, I.G. & Wabl, M. (1983) Immunoglobulin heavy chain binding protein. Nature, 306, 387-662.
15. Heidenreich, R., Eisman, R., Surrey, S., Delgrosso, K., Bennett, J.S., Schwartz, E. & Poncz, M. (1990) Organization of the gene for platelet glycoprotein Ilb. Biochemistry, 29, 1232-1244.
16. Hynes, R.O. (1987) Integrins: a family of cell surface receptors. Cell, 48, 549-554.
17. Iwamoto, S., Nishiumi, E., Kajii, E. & Ikemoto, S. (1994) An exon 28 mutation resulting in alternative splicing of the glycoprotein Ilb transcript and Glanzmann thrombasthenia. Blood, 83, 1017 1023.
18. Kadowaki, T., Kadowaki, H. & Taylor, S.I. (1990) A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction. Proceedings of the National Academy of Sciences of the United States of America, 87, 658-662.
19. Kato, A., Yamamoto, K., Miyazaki, S., Jung, S., Moroi, M. & Aoki, N. (1992) Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein Ilb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein Ilb-IIIa. Blood, 79, 3212 3218.
20. Kolodzicj, M.A., Vilaire, G., Rifat, S., Poncz, M. & Bennett, J.S. (1991) Effect of deletion of glycoprotein Ilb exon 28 on the expression of the platelet glycoprotein Ilb IIIa complex. Blood, 78, 2344-2353.
21. Krawczak, M., Reiss, J. & Cooper, D.A. (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Human Genetics, 90, 41-54.
22. Lodish, H.F. (1988) Transport of secretory and membrane glycoproteins from the rough endoplasmic reticulum to the Golgi. Journal of Biological Chemistry, 263, 2107-2110.
23. Loftus, J.C., Plow. E.F., Jennings, L.K. & Ginsberg, M.H. (1988) Alternative proteolytic processing of platelet membrane glycoprotein Ilb. Journal of Biological Chemistry, 263, 11025-11028.
24. Mikaelian, I. & Sergeant, A. (1992) A general and fast method to generate multiple site directed mutations. Nucleic Acids Research, 20, 376.
25. Narita, N., Nishio, H., Kitoh, Y., Ishikawa, Y., Ishikawa, Y., Minami, R., Nakamura, H. & Matsuo, M. (1993) Insertion of a 5′ truncated 1.1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. Journal of Clinical Investigation, 91, 1862-1867.
26. Newman, P.J., Gorski, J., White, G.C., Gidwitz, S., Cretney, C.J. & Aster, R.H. (1988) Enzymatic amplification of platelet-specific messenger RNA using the polymerase chain reaction. Journal of Clinical Investigation, 82, 739-743.
27. Nurden, A.T. & Caen, J.P. (1974) An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia. British Journal of Haematology, 28, 253-260.
28. O'Toole, T.E., Loftus, J.C., Plow, E.F., Glass, A.A., Harper, J.R. & Ginsberg, M.H. (1989) Efficient surface expression of platelet GPIIb-IIIa requires both subunits, Blood, 74, 14-18.
29. Poncz, M., Eisman, R., Heidenreich, R., Silver, S.M., Vilaire, G., Surrey, S., Schwartz, E. & Bennett, J.S. (1987) Structure of the platelet membrane glycoprotein Ilb. Journal of Biological Chemistry, 262, 8476-8482.
30. Poncz, M. Rifat, S., Coller, B.S., Newman, P.J., Shattil, S.J., Parella, T., Fortina, P. & Bennett, J.S. (1994) Glanzmann thrombasthenia secondary to a Gly 273 - Asp mutation adjacent to the first calcium-binding domain on platelet glycoprotein Ilb. Journal of Clinical Investigation, 93, 172-179.
31. Pouyssegur, J., Shiu, R.P. & Pastan, I. (1977) Induction of two transformation-sensitive membrane polypeptides in normal fibroblasts by block in glycoprotein synthesis or glucose deprivation. Cell, 11, 941-947.
32. Saiki, R.K., Glelfand, D.H., Stoffel, S., Scharf, S.J., Higuchi, R., Horn, G.T., Mullis, K.B. & Erlich, H.A. (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science, 239, 487-491.
33. Sanger, F., Nicklen, S. & Coulson, A. (1977) DNA sequencing with chain-termination inhibitors, Proceedings of the National Academy of Sciences of the United States of America, 74, 5463-5467.
34. Southern, E. (1975) Detection of specific sequences among DNA fragments, Journal of Molecular Biology, 98, 503-517.
35. Tomiyama, Y., Kashiwagi, H., Kosugi, S., Shiraga, M., Kanayama, Y., Kurata, Y. & Matsuzama, Y. (1995) Abnormal processing of the glycoprotein Ilb transcript due to a nonsense mutation in exon 17 associated with Glanzmann thrombasthenia. Thrombosis and Haemostasis, 73, 756-762.
36. Troesh, A., Duperray, A., Polack, B. & Marguerie. G. (1990) Comparative study of the glycosylation of platelet glycoprotein GPIIb-IIIa and the vitronectin receptor: differential processing of their β-subunit. Biochemical Journal, 268, 129-133.
37. Vinciguerra, C., Trzeciak, M.C., Philippe, N., Frappaz, D., Reynaud, J., Dechavanne, M. & Négrier, C. (1995) Molecular study of Glanzmann thrombasthenia in three patients issued from two different families. Thrombosis and Haemostasis, 74, 822-827.
38. Wilcox, D.A., Paddock, C.M., Lyman, S., Gill, J.C. & Newman, P.J. (1995) Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domain of GPIIh. Journal of Clinical Investigation, 95, 1553-1560.
39. Wilcox, D.A., Wauthier, J.L., Pidard, D. & Newman, P.J. (1994) A single amino acid substitution flanking the fourth calcium-binding domain of αIlb prevents maturation of the αIlbβ3 integrin complex. Journal of Biological Chemistry, 269, 4450-4457.
40. Wippler, J., Kouns, W.C., Schlaeger, E-J., Kuhn, H., Hadvary, P. & Steiner, B. (1994) The integrin αIlb-β3. platelet glycoprotein Ilb-IIIa. can form a functionally active heterodimer complex without the cystein-rich repeats of the β3 subunit, Journal of Biological Chemistry, 269, 8754-8761.
41. Zimrin, A.B., Eisman, R., Vilaire, G., Schwartz, E., Bennett, J. & Poncz, M. (1988) Structure of platelet glycoprotein IIIa. Journal of Clinical Investigation, 81, 1470-1475.