Molecular modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease

Blood

Volumn 91, Issue 6, 1998, Pages 2032-2044

  Jenkins, P Vincent ^a   Pasi, K John ^a   Perkins, Stephen J ^a  

^a ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BOTROCETIN; COLLAGEN; GLYCOPROTEIN IB; HEPARIN; PROTEINASE; RISTOCETIN; SULFATIDE; VON WILLEBRAND FACTOR;

AMINO ACID SEQUENCE; ARTICLE; GENE MUTATION; HUMAN; MOLECULAR MODEL; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN SECONDARY STRUCTURE; VON WILLEBRAND DISEASE;

EID: 0032521230     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v91.6.2032     Document Type: Article

References (53)

1. Ruggeri ZM: von Willebrand factor. J Clin Invest 99:559, 1997
2. Meyer D, Girma J-P: von Willebrand factor: Structure and function. Thromb Haemost 70:99, 1993
3. Ruggeri ZM, Ware J: von Willebrand factor. FASEB J 7:308, 1993
4. Sadler JE: von Willebrand factor. J Biol Chem 266:22777, 1991
5. Sugimoto M, Mohri H, McClintock RA, Ruggeri ZM: Identification of discontinuous von Willebrand factor sequences involved in complex formation with botrocetin. J Biol Chem 266:18172, 1991
6. Dent JA, Berkowitz SD, Ware J, Kasper CK, Ruggeri ZM: Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc Natl Acad Sci USA 87:6306, 1990
7. Furlan M, Robles R, Lämmle B: Partial purification of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood 86:4223, 1996
8. Shelton-Inloes BB, Titani K, Sadler JE: cDNA sequences for human von Willebrand factor reveal five types of repeated domain and five possible protein sequence polymorphisms. Biochemistry 25:3164, 1986
9. Cruz MA, Yuan H, Lee JR, Wise RJ, Hardin RI: Interaction of the von Willebrand factor (vWF) with collagen. J Biol Chem 270:10822, 1995
10. Lankhof H, van Hoeij M, Schiphorst ME, Bracke M, Wu Y-P, Ijsseldijk JW, Vink T, de Groot PG, Sixma JJ: A3 domain is essential for interaction of von Willebrand factor with collagen type III. Thromb Haemost 75:950, 1996
11. Ginsburg D, Sadler JE: von Willebrand disease: A database of point mutations, insertions and deletions. Thromb Haemost 69:177, 1993
12. Sadler JE, Matsushita T, Dong Z, Tuley EA, Westfield LA: Molecular mechanism and classification of von Willebrand disease. Thromb Haemost 74:161, 1995
13. Eikenboom JC, Reitsma PH, Briët E: The inheritance and molecular genetics of von Willebrand's disease. Haemophilia 1:77, 1995
14. Ribba AS, Christophe O, Derlon A, Cherel G, Siguret V, Laverge JM, Girma JP, Meyer D, Pietu G: Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease. Blood 83:833, 1994
15. Cooney KA, Ginsburg D: Comparative analysis of type 2b von Willebrand disease mutations: Implications for the mechanism of von Willebrand factor binding to platelets. Blood 87:2322, 1996
16. Rabinowitz I, Tuley EA, Mancuso DJ, Randi AM, Firkin BG, Howard MA, Sadler JE: A missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein IB. Proc Natl Acad Sci USA 89:9846, 1992
17. Hilbert L, Gaucher C, Mazurier C: Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. Blood 86:1010, 1995
18. Gaucher C, Hilbert L, Meriane F, Mazurier C, Pernod G: Type 2 von Willebrand disease resulting from an insertion or deletion in the 509-695 disulphide loop of von Willebrand factor. Thromb Haemost 7:1168, 1995 (abstr)
19. Mancuso DJ, Kroner PA, Chrisopherson PA, Vokac EA, Gill JC, Montgomery RR: Type 2M:Milwaukee-1 von Willebrand disease: An in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets. Blood 88:2559, 1996
20. Lyons SE, Cooney KA, Bockenstedt P, Ginsburg D: Characterization of Leu 777Pro and Ile865Thr type IIA von Willebrand disease mutations. Blood 83:1551, 1994
21. Hilbert L, Gaucher C, Sie P, Mazurier C: Expression of type 2A von Willebrand disease mutations. Identification of a new mutation L817P. Br J Haemat 93:17, 1996
22. Inbal A, Englender T, Kornbrot N, Randi AM, Castaman G, Mannucci PM, Sadler JE: Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid nonradioactive allele-specific hybridization method. Blood 82:830, 1993
23. Piétu G, Ribba AS, de Paillette L, Chérel G, Laverge JM, Bahnak BR, Meyer D: Molecular study of von Willebrand disease: Identification of potential mutations in patients with type IIA and type IIB. Blood Coagul Fibrinolysis 3:415, 1992
24. Colombatti A, Bonaldo P: The superfamily of proteins with von Willebrand factor-type A-like domains: One theme common to components of extracellular matrix, hemostasis, cellular adhesion and defense mechanisms. Blood 77:2305, 1991
25. Perkins SJ, Smith KF, Williams SC, Haris PI, Chapman D, Sim RB: The secondary structure of the von Willebrand factor type A domain in factor B of human complement by Fourier-transform infrared spectroscopy. Its occurrence in collagen type-VI, type-VII, type-XII and type-XIV, the integrins and other proteins by averaged structure predictions. J Mol Biol 238:104, 1994
26. Edwards YJK, Perkins SJ: The protein fold of the von Willebrand factor type A domain is predicted to be similar to the open twisted β-sheet flanked by α-helices found in human ras-p21. FEBS Lett 358:283, 1995
27. Edwards YJK, Perkins SJ: Assessment of protein fold predictions from sequence information: The predicted α/β doubly wound fold of the von Willebrand factor type A domain is similar to its crystal structure. J Mol Biol 250:277, 1996
28. Lee JO, 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
29. Lee JO, Bankston LA, Arnaout MA, Liddington R: Two conformations of the integrin A-domain (I-domain): A pathway for activation? Structure 3:1333, 1995
30. Lβ2) integrin. Proc Natl Acad Sci USA 92:10277, 1995
31. Qu A, Leahy DJ: The role of the divalent cation in the structure of the I domain from the CD11a/CD18 integrin. Structure 4:931, 1996
32. Porter CA, Goodman M, Stanhope MJ: Evidence on mammalian phylogeny from sequences of exon 28 of the von Willebrand factor gene. Mol Phylogenet Evol 5:89, 1996
33. Faham S, Hileman RE, Fromm JR, Linhardt RJ, Rees DC: Heparin structure and interactions with basic fibroblast growth factor. Science 271:1116, 1996
34. Kabsch W, Sander C: Dictionary of protein secondary structure: Pattern recognition of hydrogen-bonded and geometrical features. Biopolymers 22:2577, 1983
35. Lee B, Richards FM: The interpretation of protein structures: Estimation of static accessibility. J Mol Biol 55:379, 1971
36. Šali A, Blundell TL: The definition of topological equivalence in homologous and analogous structures: A procedure involving a comparison of local properties and relationships. J Mol Biol 212:403, 1990
37. Laskowski RA, McArthur MW, Moss DS, Thornton JM: PROCHECK - A program to check the stereochemical quality of protein structures. J Appl Crystal 26:283, 1993
38. Honig B, Nicholls A: Classical electrostatics in biology and chemistry. Science 268:1144, 1995
39. Branden C, Tooze J: Introduction to protein structure. New York, NY, Garland Publishing, 1991
40. Matsushita T, Sadler JE: Identification of amino acid residues essential for von Willebrand factor binding to platelet glycoprotein Ib. J Biol Chem 270:13406, 1995
41. Sobel M, Soler DF, Kermode JC, Harris RB: Localization and characterization of a heparin binding domain peptide of human von Willebrand factor. J Biol Chem 267:8857, 1992
42. Kridel SJ, Knauer DJ: Lysine residue 114 in human antithrombin III is required for heparin pentasaccharide-mediated activation. J Biol Chem 272:7656, 1997
43. Mulloy B, Forster MJ, Jones C, Davies DB: NMR and molecular modelling studies of the solution conformation of heparin. Biochem J 293:849, 1993
44. Sinha D, Bakhshi M, Kunapuli S, Vora R, Gabriel JL, Kirby EP, Budzynski AZ: Asp514 within the A1 domain of bovine von Willebrand factor is required for interaction with platelet glycoprotein IB. Biochem Biophys Res Comm 203:881, 1994
45. Tsai H-M: Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood 87:4235, 1996
46. Sixma JJ, van Zanten GH, Saelman EUM, Verkleij M, Lankhof H, Nieuwenhuis K, de Groot PG: Platelet adhesion to collagen. Thromb Haemostat 74:454, 1995
47. Sutcliffe MJ, Haneef I, Carney D, Blundell TL: Knowledge-based modelling of homologous proteins. Part I: Three-dimensional frameworks derived from the simultaneous superposition of multiple structures. Protein Eng 1:377, 1987
48. Srinivasan N, Blundell TL: An evaluation of the performance of an automated procedure for comparative modelling of protein tertiary structure. Protein Eng 6:501, 1993
49. Sobel M, McNeill PM, Carlson PL, Kermode JC, Adelman B, Conroy R, Marques D: Heparin inhibition of von Willebrand factor-dependent platelet funtion in vitro and in vivo. J Clin Invest 87:1787, 1991
50. van Kooyk Y, Binnerts ME, Edwards CP, Champe M, Berman PW, Figdor CG, Bodary SC: Critical amino acids in the LFA-1 I domain mediate intercellular adhesion molecule 3 binding and immune function. J Exp Med 183:1247, 1996
51. Huizinga EG, van der Plas RM, Sixna JJ, Kroon J, Gros P: Crystal structure of the A3 domain of human von Willebrand factor. 16th Congress of the International Society on Thrombosis and Haemostasis, Florence, Italy, June 1997 (abstr SC-1530)
52. Celikel R, Varughese KI, Madhusudan A, Yoshioka A, Ware J, Ruggeri ZM: Crystal structure of von Willebrand factor A1 domain in complex with the function blocking NMC-4 Fab. 16th Congress of the International Society on Thrombosis and Haemostasis, Florence, Italy, June 1997 (abstr HI-9)
53. Jenkins PV, Ononye C, Collins PW, Pasi KJ: Dominant type 1 von Willebrand's disease as a result of a deletion of a single codon in exon 28 of the vWF gene. Br J Haemat 93:310, 1996 (abstr)