Comparative analysis of type 2b von Willebrand disease mutations: Implications for the mechanism of von Willebrand factor binding to platelets

Blood

Volumn 87, Issue 6, 1996, Pages 2322-2328

  Cooney, Kathleen A ^a   Ginsburg, David ^a,b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b 1150 W Medical Center Dr ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

VON WILLEBRAND FACTOR;

ANIMAL CELL; ARTICLE; EXPRESSION VECTOR; GENE MUTATION; HUMAN; NONHUMAN; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; THROMBOCYTE; VON WILLEBRAND DISEASE;

EID: 0029960275     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v87.6.2322.bloodjournal8762322     Document Type: Article

References (35)

1. Ruggeri ZM, Ware J, Ginsburg D: von Willebrand factor: in Loscalzo J, Schafer AI (eds): Thrombosis and Hemorrhage. Boston, MA, Blackwell Scientific, 1994, p 305
2. Fujimura Y, Titani K, Holland LZ, Russell SR, Roberts JR, Elder JH, Ruggeri ZM, Zimmerman TS: von Willebrand factor: A reduced and alkylated 52/48-kDa fragment beginning at amino acid residue 449 contains the domain interacting with platelet glycoprotein Ib. J Biol Chem 261:381, 1986
3. Mohri H, Fujimura Y, Shima M, Yoshioka A, Houghten RA, Ruggeri ZM, Zimmerman TS: Structure of the von Willebrand factor domain interacting with glycoprotein Ib. J Biol Chem 263:17901, 1988
4. Marti T, Rosselet SJ, Titani K, Walsh KA: Identification of disulfide-bridged substructures within human von Willebrand factor. Biochem 26:8099, 1987
5. Andrews RK, Gorman JJ, Booth WJ, Corino GL, Castaldi PA, Berndt MC: Cross-linking of a monomeric 39/34-kDa dispase fragment of von Willebrand factor (Leu-480/Val-481-Gly-718) to the N-terminal region of the alpha-chain of membrane glycoprotein Ib on intact platelets with bis(sulfosuccinimidyl) suberate. Biochemistry 28:8326, 1989
6. Azuma H, Hayashi T, Dent JA, Ruggeri ZM, Ware J: Disulfide bond requirements for assembly of the platelet glycoprotein Ib-binding domain of von Willebrand factor. J Biol Chem 268:2821, 1993
7. Cruz MA, Handin RI, Wise RJ: The interaction of the von Willebrand factor-A1 domain with platelet glycoprotein Ib/IX. The role of glycosylation and disulfide bonding in a monomeric recombinant A1 domain protein. J Biol Chem 268:21238, 1993
8. Murata M, Russell SR, Ruggeri ZM, Ware J: Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ibα fragment. J Clin Invest 91:2133, 1993
9. Howard MA, Firkin BG: Ristocetin - A new tool in the investigation of platelet aggregation. Thromb Diath Haemorrh 76:362, 1971
10. Andrews RK, Booth WJ, Gorman JJ, Castaldi PA, Berndt MC: Purification of botrocetin from Bothrops jararaca venom. Analysis of the botrocetin-mediated interaction between von Willebrand factor and the human platelet membrane glycoprotein Ib-IX complex. Biochem 28:8317, 1989
11. Gralnick HR, Williams SB, Coller BS: Asialo von Willebrand factor interactions with platelets. J Clin Invest 75:19, 1985
12. Sugimoto M, Dent J, McClintock R, Ware J, Ruggen ZM: Analysis of structure-function relationships in the platelet membrane glycoprotein Ib-binding domain of von Willebrand's factor by expression of deletion mutants. J Biol Chem 268:12185, 1993
13. Cooney KA, Ginsburg D, Ruggeri ZM: von Willebrand disease, in Loscalzo J, Schafer AI (eds): Thrombosis and Hemorrhage. Boston, MA, Blackwell Scientific, 1994, p 657
14. Cooney KA, Nichols WC, Bruck ME, Bahou WF, Shapiro AD, Bowie EJW, Gralnick HR, Ginsburg D: The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. J Clin Invest 87:1227, 1991
15. Ginsburg D, Sadler JE: von Willebrand disease: A database of point mutations, insertions, and deletions. Thromb Haemost 69:177, 1993
16. Ware J, Dent JA, Azuma H, Sugimoto M, Kyrle PA, Yoshioka A, Ruggeri ZM: Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor. Proc Natl Acad Sci USA 88:2946, 1991
17. Cooney KA, Lyons SE, Ginsburg D: Functional analysis of a type IIB von Willebrand disease missense mutation: Increased binding of large von Willebrand factor multimers to platelets. Proc Natl Acad Sci USA 89:2869, 1992
18. 578 → Gln: A type IIB von Willebrand disease mutation affects binding to glycoprotein Ib but not to collagen or heparin. J Biol Chem 267:21187, 1992
19. Ribba A-S, Voorberg J, Meyer D, Pannekoek H, Piétu G: Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease. J Biol Chem 267:23209, 1992
20. Inbal A, Kornbrot N, Harrison P, Randi AM, Sadler JE: Effect of type IIB von Willebrand disease mutation Arg(545)Cys on platelet glycoprotein Ib binding. Studies with recombinant von Willebrand factor. Thromb Haemost 70:1058, 1993
21. Rabinowitz I, Randi AM, Shindler KS, Tuley EA, Rustagi PK, Sadler JE: Type IIB mutation His-505 → Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib. J Biol Chem 268:20497, 1993
22. Hilbert L, Gaucher C, de Romeuf C, Horellou M-H, Vink T, Mazurier C: Leu697 → Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease. Blood 83:1542, 1994
23. Ribba AS, Christophe O, Derlon A, Cherel G, Siguret V, Lavergne JM, Girma JP, Meyer D, Piétu G: Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease. Blood 83:833, 1994
24. Sadler JE: A revised classification of von Willebrand disease. Thromb Haemost 71:520, 1994
25. Lyons SE, Cooney KA, Bockenstedt P, Ginsburg D: Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations. Blood 83:1551, 1994
26. Lyons SE, Bruck ME, Bowie EJW, Ginsburg D: Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations. J Biol Chem 267:4424, 1992
27. Christophe O, Ribba AS, Baruch D, Obert B, Rouault C, Niinomi K, Piétu G, Meyer D, Girma JP: Influence of mutations and size of multimers in type II von Willebrand disease upon the function of von Willebrand factor. Blood 83:3553, 1994
28. Donnér M, Kristoffersson AC, Lenk H, Scheibel E, Dahlbäck B, Nilsson IM, Holmberg L: Type IIB von Willebrand's disease: Gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden. Br J Haematol 82:58, 1992
29. Piao YC, Lavergne JM, Boyer-Neumann C, Schandelong A, Alessi MC, Meyer D: Arg578Gln mutations in the von Willebrand factor gene in three unrelated cases of type IIB von Willebrand disease. Blood Coag Fibrinol 4:787, 1993
30. Colombatti A, Bonaldo P: The superfamily of proteins with von Willebrand factor type A-like domains: One theme common to components of extracellular matrix, hemostasts, cellular adhesion, and defense mechanisms. Blood 77:2305, 1991
31. Berndt MC, Ward CM, Booth WJ, Castaldi PA, Mazurov AV, Andrews RK: Identification of aspartic acid 514 through glutamic acid 542 as a glycoprotein Ib-IX complex receptor recognition sequence in von Willebrand factor. Mechanism of modulation of von Willebrand factor by ristocetin and botrocetin. Biochemistry 31:11144, 1992
32. Azuma H, Sugimoto M, Ruggeri ZM, Ware J: A role for von Willebrand factor proline residues 702-704 in ristocetin-mediated binding to platelet glycoprotein Ib. Thromb Haemost 69:192, 1993
33. Matsushita T, Sadler JE: Identification of amino acid residues essential for von Willebrand factor binding to platelet glycoprotein Ib. Charged-to-alanine scanning mutagenesis of the A1 domain of human von Willebrand factor. J Biol Chem 270:13406, 1995
34. Tornai I, Arnout J, Deckmyn H, Peerlinck K, Vermylen J: A monoclonal antibody recognizes a von Willebrand factor domain within the amino-teiminal portion of the subunit that modulates the function of the glycoprotem IB- and IIB/IIIA-binding domains J Clin Invest 91:273, 1993
35. Lee J-O, Rieu P, Arnaout MA, Liddington R: Crystal structure of the A domain from the α subunit of integrin CR3 (CD11b/CD18). Cell 80:631, 1995