Inherited defects of coagulation factor V: The hemorrhagic side

Journal of Thrombosis and Haemostasis

Volumn 4, Issue 1, 2006, Pages 26-34

  Asselta, R ^a   Tenchini, M L ^a   Duga, Stefano ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

Coagulation factor V; Expression studies; Factor V deficiency

Indexed keywords

ANTICOAGULANT AGENT; BLOOD CLOTTING FACTOR 10A; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 8; PROCOAGULANT; THROMBIN;

ANTICOAGULATION; BLEEDING DISORDER; BLEEDING TENDENCY; BLOOD CLOTTING; BLOOD CLOTTING FACTOR 5 DEFICIENCY; DOWN REGULATION; GENE LOCATION; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; HUMAN; IN VIVO STUDY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN FUNCTION; PROTEIN SYNTHESIS; REVIEW; THROMBOSIS; BLEEDING; BLOOD CLOTTING DISORDER; GENETICS; MUTATION; PHYSIOLOGY;

BLOOD COAGULATION DISORDERS, INHERITED; FACTOR V; FACTOR V DEFICIENCY; HEMORRHAGE; HUMANS; MUTATION;

EID: 33644854287     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2005.01590.x     Document Type: Review

References (72)

1. Mann KG, Kalafatis M. Factor V: A combination of Dr Jekyll and Mr Hyde. Blood 2003; 101: 20-30.
2. Stormorken H. The discovery of factor V: A tricky clotting factor. J Thromb Haemost 2003; 1: 206-13.
3. Jenny RJ, Pittman DD, Toole JJ, Kriz RW, Aldape RA, Hewick RM, Kaufman RJ, Mann KG. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci USA 1987; 84: 4846-50.
4. Cripe LD, Moore KD, Kane WH. Structure of the gene for human coagulation factor V. Biochemistry 1992; 31: 3777-85.
5. UCSC Genome Browser. http://genome.ucsc.edu/.
6. Ortel TL, Takahashi N, Putnam FW. Structural model of human ceruloplasmin based on internal triplication, hydrophilic/hydrophobic character, and secondary structure of domains. Proc Natl Acad Sci USA 1984; 81: 4761-5.
7. Baumgartner S, Hofmann K, Chiquet-Ehrismann R, Bucher P. The discoidin domain family revisited: New members from prokaryotes and a homology-based fold prediction. Protein Sci 1998; 7: 1626-31.
8. Nicolaes GA, Dahlbäck B. Factor V and thrombotic disease: Description of a janus-faced protein. Arterioscler Thromb Vasc Biol 2002; 22: 530-8.
9. Xue J, Kalafatis M, Mann KG. Determination of the disulfide bridges in factor Va light chain. Biochemistry 1993; 32: 5917-23.
10. Xue J, Kalafatis M, Silveira JR, Kung C, Mann KG. Determination of the disulfide bridges in factor Va heavy chain. Biochemistry 1994; 33: 13109-16.
11. Kumar HPM, Besman MJ, Lundblad RL, Jenny NS, Mann KG. Carbohydrate analysis of plasma factor V and factor VIII. Thromb Haemost [abstract] 1999; ?? (Suppl 82): 102a.
12. Macedo-Ribeiro S, Bode W, Huber R, Quinn-Allen MA, Kim SW, Ortel TL, Bourenkov GP, Bartunik HD, Stubbs MT, Kane WH, Fuentes-Prior P. Crystal structures of the membrane-binding C2 domain of human coagulation factor V. Nature 1999; 402: 434-9.
13. Pellequer JL, Gale AJ, Getzoff ED, Griffin JH. Three-dimensional model of coagulation factor Va bound to activated protein C. Thromb Haemost 2000; 84: 849-57.
14. Adams TE, Hockin MF, Mann KG, Everse SJ. The crystal structure of activated protein C inactivated bovine factor Va: Implications for cofactor function. Proc Natl Acad Sci USA 2004; 101: 8918-23.
15. Christella M, Thomassen LG, Castoldi E, Tans G, Magdeleyns EJ, Delaunoit C, Debusscher L, Van Assche KJ, Rosing J. Endogenous factor V synthesis in megakaryocytes contributes negligibly to the platelet factor V pool. Haematologica 2003; 88: 1150-6.
16. Gould WR, Silveira JR, Tracy PB. Unique in vivo modifications of coagulation factor V produce physically and functionally distinct platelet-derived cofactor: Characterization of purified platelet-derived factor V/Va. J Biol Chem 2004; 279: 2383-93.
17. Camire RM, Pollak ES, Kaushansky K, Tracy PB. Secretable human platelet-derived factor V originates from the plasma pool. Blood 1998; 92: 3035-41.
18. Chiu HC, Schick PK, Colman RW. Biosynthesis of factor V in isolated guinea pig megakaryocytes. J Clin Invest 1985; 75: 339-46.
19. Gewirtz AM, Keefer M, Doshi K, Annamalai AE, Chiu HC, Colman RW. Biology of human megakaryocyte factor V. Blood 1986; 67: 1639-48.
20. Giampaolo A, Vulcano F, Macioce G, Mattia G, Barca A, Milazzo L, Ciccarelli C, Hassan HJ. Factor-V expression in platelets from human megakaryocytic culture. Br J Haematol 2005; 128: 108-11.
21. Sun H, Yang TL, Yang A, Wang X, Ginsburg D. The murine platelet and plasma factor V pools are biosynthetically distinct and sufficient for minimal hemostasis. Blood 2003; 102: 2856-61.
22. Nicolaes GA, Villoutreix BO, Dahlbäck B. Partial glycosylation of Asn2181 in human factor V as a cause of molecular and functional heterogeneity. Modulation of glycosylation efficiency by mutagenesis of the consensus sequence for N-linked glycosylation. Biochemistry 1999; 38: 13584-91.
23. Nesheim ME, Taswell JB, Mann KG. The contribution of bovine factor V and factor Va to the activity of prothrombinase. J Biol Chem 1979; 254: 10952-62.
24. Kalafatis M, Rand MD, Mann KG. The mechanism of inactivation of human factor V and human factor Va by activated protein C. J Biol Chem 1994; 269: 31869-80.
25. Mann KG, Hockin MF, Begin KJ, Kalafatis M. Activated protein C cleavage of factor Va leads to dissociation of the A2 domain. J Biol Chem 1997; 272: 20678-83.
26. Hockin MF, Kalafatis M, Cawthern KM, Simoni P, Mann KG. A novel cellular mechanism for factor Va inactivation. 40th Annual Meeting of the American Society of Hematology. Blood 1998; 92 (suppl 1): 739a.
27. Kalafatis M, Mann KG. The role of the membrane in the inactivation of factor Va by plasmin: Amino acid region 307-348 of factor V plays a critical role for factor Va cofactor function. J Biol Chem 2001; 276: 18614-23.
28. Shen L, Dahlback B. Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor VIIIa. J Biol Chem 1994; 269: 18735-8.
29. Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-52.
30. Lak M, Sharifian R, Peyvandi F, Mannucci PM. Symptoms of inherited factor V deficiency in 35 Iranian patients. Br J Haematol 1998; 103: 1067-9.
31. Acharya SS, Coughlin A, Dimichele DM, North American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: Deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004; 2: 248-56.
32. Owren PA. Parahaemophilia: Haemorrhagic diathesis due to absence of a previuosly unknown clotting factor. Lancet 1947; 1: 446-8.
33. Guasch JF, Cannegieter S, Reitsma PH, van't Veer-Korthof ET, Bertina RM. Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene. Br J Haematol 1998; 101: 32-9.
34. Asselta R, Tenchini ML, Holme R, Brosstad F, Stormorken H. The discovery of Mary's mutation. J Thromb Haemost 2003; 1: 397-8.
35. Castoldi E, Lunghi B, Mingozzi F, Muleo G, Redaelli R, Mariani G, Bernardi F. A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population. Haematologica 2001; 86: 629-33.
36. Montefusco MC, Duga S, Asselta R, Santagostino E, Mancuso G, Malcovati M, Mannucci PM, Tenchini ML. A novel two base pair deletion in the factor V gene associated with severe factor V deficiency. Br J Haematol 2000; 111: 1240-6.
37. van Wijk R, Montefusco MC, Duga S, Asselta R, van Solinge W, Malcovati M, Tenchini ML, Mannucci PM. Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency. Br J Haematol 2001; 114: 871-4.
38. Duga S, Montefusco MC, Asselta R, Malcovati M, Peyvandi F, Santagostino E, Mannucci PM, Tenchini ML. R2074C missense mutation in the C2-domain of factor V causing moderately severe factor V deficiency: Molecular characterization by expression of the recombinant protein. Blood 2003; 101: 173-7.
39. Montefusco MC, Duga S, Asselta R, Malcovati M, Peyvandi F, Santagostino E, Mannucci PM, Tenchini ML. Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations. Blood 2003; 102: 3210-6.
40. Chen TY, Lin TM, Chen HY, Wu CL, Tsao CJ. Gly392Cys missense mutation in the A2 domain of factor V causing severe factor V deficiency: Molecular characterization by expression of the recombinant protein. Thromb Haemost 2005; 93: 614-5.
41. Fu QH, Zhou RF, Liu LG, Wang WB, Wu WM, Ding QL, Hu YQ, Wang XF, Wang ZY, Wang HL. Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees. Haemophilia 2004; 10: 264-70.
42. Schrijver I, Hong DW, Mandle L, Jones CD, DiMichele D, Monahan PE, Zehnder JL. High frequency of premature termination mutations in the factor V gene: Three factor V deficiency case reports and a mutation review. Thromb Haemost 2005; 93: 610-1.
43. Schrijver I, Koerper MA, Jones CD, Zehnder JL. Homozygous factor V splice site mutation associated with severe factor V deficiency. Blood 2002; 99: 3063-5.
44. Xie F, Cheng F, Zhu X. Studies on hereditary deficiency of coagulation factor V. Zhonghua Xue Ye Xue Za Zhi 2001; 22: 453-6.
45. van Wijk R, Nieuwenhuis K, van den Berg M, Huizinga EG, van der Meijden BB, Kraaijenhagen RJ, van Solinge WW. Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. Blood 2001; 98: 358-67.
46. Fu WJ, Hou J, Wang DX, Yu RQ. Identification of a novel mutation of human blood coagulation FV gene associated with congenital FV deficiency. Zhonghua Xue Ye Xue Za Zhi 2003; 24: 119-21.
47. Asselta R, Montefusco MC, Duga S, Malcovati M, Peyvandi F, Mannucci PM, Tenchini ML. Severe factor V deficiency: Exon skipping in the factor V gene causing a partial deletion of the C1 domain. J Thromb Haemost 2003; 1: 1237-44.
48. Bossone A, D'Angelo F, Santacroce R, De Lucia D, Margaglione M. Factor V Arg2074Cys: A novel missense mutation in the C2 domain of factor V. Thromb Haemost 2002; 87: 923-4.
49. Schrijver I, Houissa-Kastally R, Jones CD, Garcia KC, Zehnder JL. Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding. Thromb Haemost 2002; 87: 294-9.
50. Vos HL, Bertina R. Inherited defects of coagulation factor V: The thrombotic side. J Thromb Haemost 2006; 4: 35-40.
51. Yamazaki T, Nicolaes GA, Sorensen KW, Dahlbäck B. Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype. Blood 2002; 100: 2515-21.
52. Scanavini D, Girelli D, Lunghi B, Martinelli N, Legnani C, Pinotti M, Palareti G, Bernardi F. Modulation of factor V levels in plasma by polymorphisms in the C2 domain. Arterioscler Thromb Vasc Biol 2004; 24: 200-6.
53. Murray JM, Rand MD, Egan JO, Murphy S, Kim HC, Mann KG. Factor VNew Brunswick: Ala221-to-Val substitution results in reduced cofactor activity. Blood 1995; 86: 1820-7.
54. Steen M, Miteva M, Villoutreix BO, Yamazaki T, Dahlbäck B. Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterized. Blood 2003; 102: 1316-22.
55. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 36: 64-7.
56. Simioni P, Scudeller A, Radossi P, Gavasso S, Girolami B, Tormene D, Girolami A. "Pseudo homozygous" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: Report of two cases belonging to two unrelated kindreds. Thromb Haemost 1996; 75: 422-6.
57. Dargaud Y, Trzeciak MC, Meunier S, Angei C, Pellechia D, Negrier C, Vinciguerra C. Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy. Br J Haematol 2003; 123: 342-5.
58. Simioni P, Castoldi E, Lunghi B, Tormene D, Rosing J, Bernardi F. An underestimated combination of opposites resulting in enhanced thrombotic tendency. Blood 2005; 106: 2363-5.
59. Oeri J, Matter M, Isenschmid H, Hauser F, Koller F. Angeborener Mangel an Faktor V (Parahaemophilie) verbunden mit echter Haemophilie A bei zwei Brudern. Mod Probl Paediatr 1954; 1: 575-88.
60. Nichols WC, Seligsohn U, Zivelin A, Terry VH, Arnold ND, Siemieniak DR, Kaufman RJ, Ginsburg D. Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. J Clin Invest 1997; 99: 596-601.
61. Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, Ginsburg D. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 1998; 93: 61-70.
62. Nichols WC, Terry VH, Wheatley MA, Yang A, Zivelin A, Ciavarella N, Stefanile C, Matsushita T, Saito H, de Bosch NB, Ruiz-Saez A, Torres A, Thompson AR, Feinstein DI, White GC, Negrier C, Vinciguerra C, Aktan M, Kaufman RJ, Ginsburg D, Seligsohn U. ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. Blood 1999; 93: 2261-6.
63. Neerman-Arbez M, Johnson KM, Morris MA, McVey JH, Peyvandi F, Nichols WC, Ginsburg D, Rossier C, Antonarakis SE, Tuddenham EG. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. Blood 1999; 93: 2253-60.
64. Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet 2003; 34: 220-5.
65. Tracy PB, Giles AR, Mann KG, Eide LL, Hoogendoorn H, Rivard GE. Factor V Quebec: A bleeding diathesis associated with a qualitative platelet factor V deficiency. J Clin Invest 1984; 74: 1221-8.
66. Hayward CP, Rivard GE, Kane WH, Drouin J, Zheng S, Moore JC, Kelton JG. An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect. Blood 1996; 87: 4967-78.
67. Hayward CP, Cramer EM, Kane WH, Zheng S, Bouchard M, Masse JM, Rivard GE. Studies of a second family with the Quebec platelet disorder: Evidence that the degradation of the alpha-granule membrane and its soluble contents are not secondary to a defect in targeting proteins to alpha-granules. Blood 1997; 89: 1243-53.
68. Janeway CM, Rivard GE, Tracy PB, Mann KG. Factor V Quebec revisited. Blood 1996; 87: 3571-8.
69. Weiss HJ, Lages B, Zheng S, Hayward CP. Platelet factor V New York: A defect in factor V distinct from that in factor V Quebec resulting in impaired prothrombinase generation. Am J Hematol 2001; 66: 130-9.
70. Cui J, O'Shea KS, Purkayastha A, Saunders TL, Ginsburg D. Fatal haemorrhage and incomplete block to embryogenesis in mice lacking coagulation factor V. Nature 1996; 384: 66-8.
71. Yang TL, Cui J, Taylor JM, Yang A, Gruber SB, Ginsburg D. Rescue of fatal neonatal hemorrhage in factor V deficient mice by low level transgene expression. Thromb Haemost 2000; 83: 70-7.
72. The Haemophilia A Mutation, Structure, Test and Resource Site. http://europium.csc.mrc.ac.uk/WebPages/Main/main.htm