Impaired dimerization of von Willebrand factor subunit due to mutation A280ID in the CK domain results in a recessive type 2A subtype IID von Willebrand disease

Thrombosis and Haemostasis

Volumn 95, Issue 5, 2006, Pages 776-781

  Hommais, Antoine ^a   Stépanian, Alain ^a   Fressinaud, Edith ^b   Mazurier, Claudine ^c   Pouymayou, Katia ^d   Meyer, Dominique ^a   Girma, Jean Pierre ^a   Ribba, Anne Sophie ^a,e  

^a BICÊTRE HOSPITAL   (France)

^b NANTES UNIVERSITY HOSPITAL   (France)

^c Laboratoire Francais du Fractionnement et des Biotechnologies   (France)

^d TIMONE HOSPITAL   (France)

^e INSERM   (France)

Author keywords

CK domain; Dimerization; Type 2A VWF; von Willebrand disease; von Willebrand factor

Indexed keywords

ALANINE; ASPARTIC ACID; DIMER; MONOMER; POLYMER; RISTOCETIN; VON WILLEBRAND FACTOR;

ADULT; ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL STRAIN COS7; CONTROLLED STUDY; DISEASE CLASSIFICATION; FEMALE; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC IDENTIFICATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYBRID GENE; MOLECULAR WEIGHT; NONHUMAN; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN LOCALIZATION; PROTEIN POLYMERIZATION; RECESSIVE GENE; SYMPTOMATOLOGY; THROMBOCYTE; VON WILLEBRAND DISEASE;

EID: 33646441601     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH06-01-0026     Document Type: Article

References (29)

1. Ruggeri ZM. Von Willebrand factor. Curr Opin Hematol 2003; 10: 142-9.
2. Sadler JE. Biochemistry and genetics of von Willebrand factor. Annual Review of Biochemistry 1998; 67: 395-424.
3. Wagner DD, Lawrence SO, Ohlsson-Wihelm BM, et al. Topology and order of formation of interchain disulfide bonds in von Willebrand Factor. Blood 1987; 69: 27-32.
4. Voorberg J, Fontijn R, Calafat J, et al. Assembly and routing of von Willebrand Factor variants - The requirements for disulfide-linked dimerization reside within the carboxy-terminal-151 amino acids. J Cell Biol 1991; 113: 195-205.
5. Katsumi A, Tuley EA, Bodo I, et al. Localization of disulfide bonds in the cystine knot domain of human von Willebrand factor. J Biol Chem 2000; 275: 25585-94.
6. Voorberg J, Fontijn R, van Mourik JA, et al. Domains involved in multimer assembly of von Willebrand factor (vwf)-multimerization is independent of dimerization. Embo J 1990; 9: 797-803.
7. Mayadas TN, Wagner DD. von Willebrand factor biosynthesis and processing. Ann NY Acad Sci 1991; 614: 153-66.
8. Rosenberg JB, Haberichter SL, Jozwiak MA, et al. The role of the D1 domain of the von Willebrand factor propeptide in multimerization of VWF. Blood 2002; 100: 1699-706.
9. Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 520-5.
10. Schneppenheim R, Budde U. Phenotypic and genotypic diagnosis of von Willebrand disease: a 2004 update. Semin Hematol 2005; 42: 15-28.
11. Ribba AS, Voorberg J, Meyer D, et al. Characterization of Recombinant von Willebrand Factor Corresponding to Mutations in Type-IIA and Type-IIB von Willebrand Disease. J Biol Chem 1992; 267: 23209-15.
12. Lankhof H, Damas C, Schiphorst ME, et al. Recombinant vWF type 2A mutants R834Q and R834W show a defect in mediating platelet adhesion to collagen, independent of enhanced sensitivity to a plasma protease. Thromb Haemost 1999; 81: 976-83.
13. Tsai HM, Sussman II, Ginsburg D, et al. Proteolytic cleavage of recombinant type 2A von Willebrand factor mutants R834W and R834Q: Inhibition by doxycycline and by monoclonal antibody VP-1. Blood 1997; 89: 1954-62.
14. Hassenpflug WA, Budde U, Obser T, et al. Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis. Blood 2006; Mar 15; 107: 2339-45.
15. Meyer D, Fressinaud E, Hilbert L, et al. Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function. Best Pract Res Clin Haematol 2001; 14: 349-64.
16. Schneppenheim R, Brassard J, Krey S, et al. Defective dimerization of von Willebrand factor subunits due to a Cys→Arg mutation in type IID von Willebrand disease. Proc Natl Acad Sci USA 1996; 93: 3581-6.
17. Enayat MS, Guilliatt AM, Surdhar GK, et al. Aberrant dimerization of von Willebrand factor as the result of mutations in the carboxy-terminal region: identification of 3 mutations in members of 3 different families with type 2A (Phenotype IID) von Willebrand disease. Blood 2001; 98: 674-80.
18. Tjernberg P, Vos HL, Castaman G, et al. Dimerization and multimerization defects of von Willebrand factor due to mutated cysteine residues. J Thromb Haemost 2004; 2: 257-65.
19. Schneppenheim R, Budde U, Obser T, et al. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease. Blood 2001; 97: 2059-66.
20. Veyradier A, Fressinaud E, Meyer D. Laboratory diagnosis of von Willebrand disease. Intern J Clin Lab Res 1998; 28: 201-10.
21. Obert B, Tout H, Veyradier A, et al. Estimation of the von Willebrand factor-cleaving protease in plasma using monoclonal antibodies to vWF. Thromb Haemost 1999; 82: 1382-5.
22. Siguret V, Ribba AS, Christophe O, et al. Characterization of recombinant von Willebrand factors mutated on cysteine 509 or 695. Thromb Haemost 1996; 76: 453-9.
23. Hilbert L, Gaucher C, De Romeuf C, et al. Leu697→Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease. Blood 1994; 83: 1542-50.
24. Obert B, Houllier A, Meyer D, et al. Conformational changes in the A3 domain of von Willebrand factor modulate the interaction of the A1 domain with platelet glycoprotein Ib. Blood 1999; 93: 1959-68.
25. Hommais A, Stepanian A, Fressinaud E, et al. Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion. J Thromb Haemost 2006; 4: 148-57.
26. Huizinga EG, Tsuji S, Romijn RAP, et al. Structures of glycoprotein Ib alpha and its complex with von Willebrand factor A1 domain. Science 2002; 297: 1176-9.
27. Howard MA, Perkin J, Salem HH, et al. The agglutination of human platelets by botrocetin : evidence that botrocetin and ristocetin act at different sites on the Factor VIII molecule and platelet membrane. Br J Haematol 1984; 57: 25-35.
28. Christophe O, Ribba AS, Baruch D, et al. Influence of mutations and size of multimers in type II von Willebrand disease upon the function of von Willebrand factor. Blood 1994; 83: 3553-61.
29. Denis CV. Molecular and cellular biology of von Willebrand factor. Int J Hematol 2002; 75: 3-8.