Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain

Blood

Volumn 91, Issue 1, 1998, Pages 142-148

  Leonard, Blair J N ^b   Chen, Qi ^b   Blajchman, Morris A ^b   Ofosu, Frederick A ^b   Sridhara, Sampath ^b   Yang, Daniel ^b   Clarke, Bryan J ^a  

^a MCMASTER UNIVERSITY   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 7; EPIDERMAL GROWTH FACTOR; PROCOAGULANT;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CELL SECRETION; DNA DETERMINATION; ENZYME LINKED IMMUNOSORBENT ASSAY; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; NORTHERN BLOTTING; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FOLDING; SITE DIRECTED MUTAGENESIS;

EID: 0031965020     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v91.1.142.142_142_148     Document Type: Article

References (44)

1. Berube C, Ofosu FA, Kelton JG, Blajchman MA: A novel congenital haemostatic defect Combined factor VII and factor XI deficiency. Blood Coagul Pibrinolysis 3:357, 1992
2. O'Hara PJ, Grant FS, Haldeman BA, Gray CL, Insley MY, Hagen FS, Murray MJ: Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc Natl Acad Sci USA 84:5158, 1987
3. Ott R, Pfeiffer RA: Evidence that activities of coagulation factors VII and X are linked to chromosome 13(q34). Hum Hered 34:123, 1984
4. Morrisey JH, Macik BG, Neuenschwander PF, Comp PC: Quantitation of activated factor VII levels in plasma using a tissue factor mutant selectively deficient in promoting factor VII activation. Blood 81:734, 1993
5. Zur M, Radcliffe RD; Oberdick J, Nemerson Y: The dual role of factor VII in blood coagulation. Initiation and inhibition of a proteolytic system by a zymogen. J Biol Chem 257:5623, 1982
6. Drake TA, Morrissey JH, Edgington TS: Selective cellular expression of tissue factor in human tissues. Am J Pathol 134:1087, 1989
7. Heck RA, Rao LVM, Rapaport SI, Varki N: Localization of human tissue factor antigen by immunostaining with monospecific, polyclonal anti-human tissue factor antibody. Thromb Res 59:42, 1990
8. Colucci M, Balconi R, Lorenzet R, Pietra A, Locau D, Donati MB, Semanaro N: Cultured human endothelial cells generate tissue factor in response to endotoxin. J Clin Invest 71:1893, 1983
9. Wildgoose P, Kazim AL, Kisiel W: The importance of residues 195-206 of human blood clotting factor VII in the interaction of factor VII with tissue factor. Proc Natl Acad Sci USA 87: 7290, 1990
10. Kumar A, Blumenthal DK, Fair DS: Identification of molecular sites on factor VII which mediate its assembly and function in the extrinsic pathway activation complex. J Biol Chem 266:915, 1991
11. Chaing S, Clarke BJ, Sridhara S, Chu K, Freidman P, Van Dusen W, Roberts HR, Blajchman M, Monroe DM, High, KA: Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor. Blood 83:3524, 1994
12. O'Brien DP, Gale KM, Anderson JS, McVey JH, Miller GJ, Meade JW, Tuddenham EGD: A variant molecule with reduced activity isolated from a clinically unaffected male. Blood 78:132, 1991
13. Tuddenham EGD, Pemberton S, Cooper DN: Inherited factor VII deficiency: Genetics and molecular pathology. Thromb Haemost 74:313, 1995
14. Banner DW, D'Arcy A, Chene C, Winkler FK, Guha A, Konigsberg WH, Nemerson Y, Kirchhofer D: The crystal structure of the complex of blood coagulation factor VIIa with soluble tissue factor. Nature 380:41, 1996
15. Toomey J, Smith K, Stafford D: Localization of the human tissue factor recognition determinant of human factor VIIa. J Biol Chem 266:19198, 1991
16. Clarke BJ, Ofosu FA, Sridhara S, Bona RD, Rickles FR, Blajchman MA: The first epidermal growth factor domain of human coagulation factor VII is essential for binding with tissue factor. FEBS Lett 298:206, 1992
17. Sridhara S, Clarke BJ, Ofosu FA, High KA, Blajchman M: The direct binding of human factor VII in plasma to recombinant human tissue factor. Thromb Res 70:307, 1993
18. Sridhara S, Chaing S, High K, Blajchman M, Clarke BJ: Activation of a recombinant human factor VII structural analogue alters its affinity of binding to tissue factor. Am J Hematol 53:66, 1996
19. O'Brien DP, Kemball-Cook G, Hutchinson AM, Martin DMA, Johnson DJD, Byfield DGH, Takamiya O, Tuddenham EGD, McVey JH: Surface plasmon resonance studies of the interaction between factor VII and tissue factor. Demonstration of defective tissue factor binding in a variant FVII molecule (FVII-R79Q). Biochemistry 33:14162, 1994
20. Chen Q, Clarke BJ, Blajchman MA, Ofosu FA: Factor VII Hamilton: A novel type 2 mutation located at residue 57 in the first EGF domain of human factor VII. Thromb Haemost 69: 1291a, 1993 (abstr)
21. Rao LVM, Rapaport SI: Activation of factor VII bound to tissue factor: A key early step in the tissue factor pathway of blood coagulation. Proc Natl Acad Sci USA 85:6687, 1988
22. Deng WP, Nickoloff JA: Site-directed mutagenesis of virtually any plasmid by eliminating a unique site. Anal Biochem 200:81, 1992
23. Anderson S, Davis PL, Dahlback H, Jornvall H, Russell DW: Cloning structure and expression of the mitochondrial cytochrome P-450 sterol hydroxylase, a bile acid biosynthetic enzyme. J Biol Chem 264:8222, 1989
24. Clarke BJ, Sridhara S: Incomplete gamma carboxylation of human coagulation factor VII. Differential effects on tissue factor binding and enzymatic activity. Br J Haematol 93:445, 1996
25. Ofosu FA, LeClerc J, Delorme F, Craven S, Shafai S, Frewin L, Blajchman MA: The low molecular weight heparin Enoxaparin inhibits the consumption of factor VII and prothrombin activation in vivo associated with elective knee replacement surgery. Br J Haematol 82:391, 1992
26. Seligsohn U, Osterud B, Rapaport S: Coupled amidolytic assay for factor VII: Its use with a clotting assay to determine the activity state of factor VII. Blood 52:978, 1978
27. Feinberg AP, Vogelstein B: A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 137:266, 1984
28. 2+-binding epidermal growth factor-like domain: Its role in protein-protein interactions. Cell 82:131, 1995
29. Harlow E, Lane D: Antibodies: A Laboratory Manual (ed 1). Cold Spring Harbor, New York, Cold Spring Harbor Laboratory, 1988
30. Sheffield WP, Brothers AB, Wells MJ, Hatten MWC, Clarke BJ, Blajchman MA: Molecular cloning and expression of rabbit antithrombin III. Blood 79:2330, 1992
31. Howard PR, Bovill EG, Pike J, Church WR, Tracy RP: Factor VII antigen levels in a healthy blood donor population. Thromb Haemost 72:21, 1994
32. Broze GJ, Hickman S, Miletich JP: Monoclonal anti-human factor VII antibodies. J Clin Invest 76:937, 1985
33. Bernardi F, Marchetti G, Pinotti M, Arcieri P, Baroncini C, Papacchini M, Zepponi E, Ursicino N, Chiarotti F, Mariani G: Factor VII gene polymorphisms contribute about one-third of the factor VII level variation in plasma. Arterioscler Thromb Vasc Biol 16:72, 1996
34. Arbini A, Manaucci P, Bauer K: A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. Blood 87:5085, 1996
35. Ohiwa M, Hayashi T, Wada H, Minamikawa K, Shivakawa S, Suzaki K: Factor VII Mie: Homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg (247) (CGC) in the catalytic domain. Thromb Haemost 71:773, 1994
36. Rowley G, Saad S, Gianelli F, Green PM: Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage. Genomics 30:574, 1995
37. Hurtley SM, Helenius A: Protein oligomerization in the endoplasmic reticulum. Annu Rev Cell Biol 5:277, 1989
38. Lodish HF: Transport of secretory and membrane glycoproteins from the rough endoplasmic reticulum to the golgi. A rate limiting step in protein maturation and secretion. J Biol Chem 263:2107, 1988
39. Rose JK, Doms RW: Regulation of protein export from the endoplasmic reticulum. Annu Rev Cell Biol 4:257, 1988
40. Appella E, Weber IT, Blasi F: Structure and function of epidermal growth factor-like regions in proteins. FEBS Lett 231:1, 1988
41. Stenflo J: Structure-function relationships of epidermal growth factor modules in vitamin-K dependent clotting factors. Blood 78:1637, 1991
42. Campbell ID, Bork P: Epidermal growth factor-like molecules. Curr Opin Struct Biol 3:385, 1993
43. Brandstetter H, Bauer M, Huber R, Lollar P, Bode W: X-ray structure of clotting factor IXa: Active site and module structure related to Xase activity and hemophilia B. Proc Natl Acad Sci USA 92:9796, 1995
44. Hommel U, Harvey TS, Driscoll PC, Campbetl ID: Human epidermal growth factor: High resolution solution structure and comparison with transforming growth factor alpha. J Mol Biol 227:271, 1992