A Ser162→Leu mutation within glycoprotein (GP) IIIa (integrin β3) results in an unstable α(IIb)β3 complex that retains partial function in a novel form of type II Glanzmann thrombasthenia

Thrombosis and Haemostasis

Volumn 80, Issue 1, 1998, Pages 42-48

  Jackson, Denise E ^a   White, Melanie M ^b   Jennings, Lisa K ^b   Newman, Peter J ^a,c  

^a BLOOD RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN IIIA; INTEGRIN; MONOCLONAL ANTIBODY; MUTANT PROTEIN; BETA3 INTEGRIN; FIBRINOGEN RECEPTOR; LEUCINE; LEUKOCYTE ANTIGEN; SERINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; COMPLEX FORMATION; CONTROLLED STUDY; GLANZMANN DISEASE; HUMAN; HUMAN CELL; LIGAND BINDING; MALE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN STABILITY; SCHOOL CHILD; SEDIMENTATION RATE; SUCROSE GRADIENT; AMINO ACID SEQUENCE; CHILD; GENETICS; MOLECULAR GENETICS; PROTEIN TERTIARY STRUCTURE; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANTIGENS, CD; CHILD; HUMANS; INTEGRIN BETA3; INTEGRINS; LEUCINE; MALE; MOLECULAR SEQUENCE DATA; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; PLATELET MEMBRANE GLYCOPROTEINS; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID; SERINE; THROMBASTHENIA;

EID: 0031595456     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1615136     Document Type: Article

References (57)

1. 3 subunit: Cation displacement is involved in ligand binding. Cell 1494; 79: 659-67.
2. D'Souza SE, Ginsberg MH, Matsueda GR, Plow EF. A discrete sequence in a platelet integrin is involved in ligand recognition. Nature 1991; 350: 66-8.
3. Taylor DB, Gartner TK. A peptide corresponding to GPIIb 300-312, a presumptive fibrinogen γ-chain binding site on the platelet integrin GPIIb/IIIa, inhibits the adhesion of platelets to at least four adhesive ligands. J Biol Chem 1992; 267: 11729-33.
4. Charo IF, Nannizzi L, Phillips DR, Hsu MA, Scarborough RM. Inhibition of fibrinogen binding to GPIIb-IIIa by a GPIIIa peptide. J Biol Chem 1991; 266: 1415-21.
5. 3 integrin derived peptide 217-230 inhibits fibrinogen binding and platelet aggregation: significance of RGD sequences and fibrinogen A-chain. Biochem Biophys Res Commun 1993; 190: 118-24.
6. 3 (GPIIb-IIIa) and inhibit ligand binding. J Biol Chem 1993; 268: 6870-73.
7. 3. J Biol Chem 1996; 271: 30544-7.
8. Jennings LK, Phillips DR. Purification of glycoproteins IIb and III from human platelet plasma membranes and characterization of a calcium-dependent glycoprotein IIb-III complex. J Biol Chem 1982; 257: 10458-66.
9. ++-dependent complexes of platelet membrane glycoproteins IIb and IIIa in solution as determined by crossed immunoelectrophoresis. Blood 1981; 58: 268-78.
10. Bennett JS, Hoxie JA, Leitman SF, Vilaire G, Cines DB. Inhibition of fibrinogen binding to stimulated human platelets by a mAb. Proc Natl Acad Sci USA 1983; 80: 2417-21.
11. Bennett JS, Vilaire G, Cines DB. Identification of the fibrinogen receptor on human platelets by photoaffinity labeling. J Biol Chem 1982; 257: 8049-54.
12. Bray PF, Rosa J-P, Lingappa VR, Kan YW, McEver RP, Shuman MA. Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins IIb and IIIa. Proc Natl Acad Sci USA 1986;83: 1480-4.
13. Duperray A, Troesch A, Berthier R, Chagnon E, Frachet P, Uzan G, Marguerie G. 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 1989; 74: 1603-11.
14. Duperray A, Berthier R, Chagnon E, Ryckewaert JJ, Ginsberg MH, Plow EF, Marguerie G. Biosynthesis and processing of platelet GPIIb-IIIa in human megakaryocytes. J Cell Biol 1987; 104: 1665-73.
15. O'Toole TE, Loftus JC, Plow EF, Glass AA, Harper JR, Ginsberg MH. Efficient surface expression of platelet GPIIb-IIIa requires both subunits. Blood 1989; 74: 14-8.
16. Rosa J-P, McEver RP. Processing and assembly of the integrin, glycoprotein IIb-IIIa in HEL cells. J Biol Chem 1989; 264: 12596-603.
17. Glanzmann E. Hereditäre hämorrhagische Thrombasthenie: ein Beitrag zur Pathologie der Blutplättchen. J Kinderkr 1918; 88: 113-41.
18. George JN, Caen JP, Nurden AT. Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood 1990; 75: 1383-95.
19. Bennett JS, Vilaire G. Exposure of platelet fibrinogen receptors by ADP and epinephrine. J Clin Invest 1979; 64: 1393-401.
20. Caen JP. Glanzmann's thrombasthenia. Clin Haematol 1972; 1: 383-92.
21. Burk CD, Newman PJ, Lyman S, Gill J, Coller BS, Poncz M. A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. J Clin Invest 1991; 87: 270-6.
22. Li L, Bray PF. Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia. Am J Hum Genet 1995; 85: 140-9.
23. Peretz H, Rosenberg N, Usher S, Graff E, Newman PJ, Coller BS, Seligsohn U. Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene. Blood 1994; 85: 414-20.
24. Iwamoto S, Nishiumi E, Kajii E, Ikemoto S. An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann's thrombasthenia. Blood 1994; 83: 1017-23.
25. Newman PJ, Seligsohn U, Lyman S, Coller BS. The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab population in Israel. Proc Natl Acad Sci USA 1991; 88: 3160-4.
26. 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation. Science 1990; 249: 915-8.
27. 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site. J Biol Chem 1992; 267: 3789-94.
28. 214Trp mutation. J Clin Invest 1992; 89: 1995-2004.
29. 273 → Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. J Clin Invest 1994; 93: 172-9.
30. 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. Proc Natl Acad Sci USA 1992; 89: 10169-73.
31. 3 integrin complex. J Biol Chem 1994; 269: 4450-7.
32. Wilcox DA, Paddock CM, Lyman S, Gill JC, Newman PJ. Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association. J Clin Invest 1995; 95: 1553-60.
33. Wang RG, Ambruso DR, Newman PJ. Truncation in the cytoplasmic domain of integrin beta-3 subunit confers an inactivated state to the alpha-IIb-beta-3 complex in a variant type of Glanzmann thrombasthenia. Blood 1994; 84: 244a.
34. Lee J-O Rieu P, Arnaout MA, Liddington R. Crystal structure of the A domain from the a subunit of integrin CR3 (CD11b/CD18). Cell 1995; 80: 631-8.
35. Nurden AT, Rosa J-P, Fournier D, Legrand C, Didry C, Parquet A, Pidard A. A variant of Glanzmann's thrombasthenia with abnormal glycoprotein IIb-IIIa complexes in the platelet membrane. J Clin Invest 1987; 79: 962-9.
36. Fournier DJ, Kabral A, Castaldi PA, Berndt MC. A variant of Glanzmann's thrombasthenia characterized by abnormal glycoprotein IIb/IIIa complex formation. Thromb Haemost 1989; 62 (3): 977-83.
37. Newman PJ, Weyerbusch-Bottum S, Visentin GP, Gidwitz S, White II GC. Type II Glanzmann thrombasthenia due to a destabilizing amino acid substitution in platelet membrane glycoprotein IIIa. Thromb Haemost 1993; 69 (6): 1691a.
38. Jennings LK, Wang WC, Jackson CW, Fox CF, Bell A. Hemostasis in Glanzmann's thrombasthenia (GT): GT platelets interfere with the aggregation of normal platelets. Amer J Pediatr Hematol 1991; 13 (1): 84-90.
39. Kouns WC, Wall CD, White MM, Fox CF, Jennings LK. A conformation-dependent epitope of human platelet glycoprotein IIIa. J Biol Chem 1990; 265: 20594-601.
40. Jennings LK, White MM, Mandrell TD. Interspecies comparison of platelet aggregation. LIBS expression and clot retraction: observed differences in GPIIb-IIIa functional activity. Thromb Haemost 1995; 74 (6): 1551-6.
41. McEver RP, Bennett EM, Martin MN. Identification of two structurally and functionally distinct sites on human platelet membrane glycoprotein IIb-IIIa using monoclonal antibodies. J Biol Chem 1983; 258: 5269-75.
42. Coller BS, Peerschke EI, Seligsohn U, Scudder LE, Nurden AT, Rosa JP. Studies on the binding of an alloimmune and two murine monoclonal antibodies to the platelet glycoprotein IIb-IIIa complex receptor. J Lab Clin Med 1986; 107: 384-93.
43. Coller BS. A new murine monoclonal antibody reports an activation-dependent change in the conformation and/or microenvironment of platelet GPIIb-IIIa complex. J Clin Invest 1985; 76: 101-8.
44. Weisel JW, Nagaswami C, Vilaire G, Bennett JS. Examination of the platelet membrane glycoprotein IIb-IIIa complex and its interaction with fibrinogen and other ligands by electron microscopy. J Biol Chem 1992; 267: 16637-43.
45. Pidard D, Montgomery RR, Bennett JS, Kunicki TJ. Interaction of AP-2, a monoclonal antibody specific for the human platelet glycoprotein IIb-IIIa complex, with intact platelets. J Biol Chem 1983; 258: 12582-6.
46. Coller BS, Peerschke EI, Scudder LE, Sullivan CA. Studies with a murine monoclonal antibody that abolishes ristocetin-induced binding of von Willebrand factor to platelets: Additional evidence in support of GPIb as a platelet receptor for von Willebrand factor. Blood 1983; 61: 99-100.
47. Newman PJ, Allen RW, Kahn RA, Kunicki TJ. Quantitation of membrane glycoprotein IIIa on intact human platelets using the monoclonal antibody, AP-3. Blood 1985; 65: 227-32.
48. Newman PJ, Gorski J, White GC, Gidwitz S, Cretney CJ, Aster RH. Enzymatic amplification of platelet-specific messenger RNA using the polymerase chain reaction. J Clin Invest 1988; 82: 739-43.
49. Jennings LK, Ashmun RA, Wang WC, Dockter ME. Analysis of human platelet glycoproteins IIb-IIIa and Glanzmann's thrombasthenia in whole blood by flow cytometry. Blood 1986; 68 (1): 173-9.
50. Lefebvre P, White MD, Krumweide I, Cohen I. Role of actin in platelet function. Eur J Cell Biol 1993; 62: 194-204.
51. 3 (platelet glycoprotein IIb/IIIa) and cellular retraction of fibrin polymers. J Biol Chem 1994; 269: 32479-87.
52. Schielen WJG, Voskuilen M, Tesser GI, Nieuwenhuizen W. The sequence Aα-(148-160) in fibrin, but not in fibrinogen, is accessible to monoclonal antibodies. Proc Natl Acad Sci USA 1989; 86: 8951-4.
53. Ugarova TP, Budzynski AZ, Shattil SJ, Ruggeri ZM, Ginsberg MH, Plow EF. Conformational changes in fibrinogen elicited by its interaction with the platelet membrane glycoprotein GPIIb-IIIa. J Biol Chem 1993; 268: 21080-7.
54. Taylor DB, Derrick JM, Gartner TK. Antibodies to GPIIbα (300-312) inhibit fibrinogen binding, clot retraction, and platelet adhesion to multiple ligands. Proc Soc Exp Biol Med 1994; 205: 35-43.
55. Farrell DH, Thiagarajan P, Chung DW, Davie EW. Role of fibrinogen and chain sites in platelet aggregation. Proc Natl Acad Sci 1992; 89: 10729-32.
56. 3. EMBO J 1996; 15: 5760-71.
57. Rooney MM, Parise LV, Lord ST. Dissecting clot retraction and platelet aggregation. J Biol Chem 1996; 271: 8553-5.