Fibrinogen Philadelphia, a hypodysfibrinogenemia characterized by abnormal polymerization and fibrinogen hypercatabolism due to γ S378P mutation

Blood

Volumn 105, Issue 8, 2005, Pages 3162-3168

  Keller, Margaret A ^b   Martinez, Josè ^b   Baradet, Timothy C ^b   Nagaswami, Chandrasekaran ^b   Chernysh, Irina N ^b   Borowski, Meggin K ^b   Surrey, Saul ^b   Weisel, John W ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 13; FIBRINOGEN;

ARTICLE; CONTROLLED STUDY; CROSS LINKING; DNA ISOLATION; DNA POLYMORPHISM; DNA SEQUENCE; DYSFIBRINOGENEMIA; FEMALE; FIBRIN CLOT; FIBRIN POLYMERIZATION; FIBRINOGEN METABOLISM; FIBRINOGEN PHILADELPHIA; GENE MUTATION; GENOTYPE; HUMAN; MALE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN STRUCTURE; SCANNING ELECTRON MICROSCOPY; TRANSMISSION ELECTRON MICROSCOPY;

EID: 17044437871     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-04-1621     Document Type: Article

References (46)

1. Doolittle RF. Fibrinogen and fibrin. Annu Rev Biochem. 1984;53:195-229.
2. Mosesson MW, Siebenlist KR, Meh DA. The structure and biological features of fibrinogen and fibrin. Ann N Y Acad Sci. 2001;936:11-30.
3. Blomback B, Hessel B, Hogg D, Therkildsen L. A two-step fibrinogen-fibrin transition in blood coagulation. Nature. 1978;275:501-505.
4. Weisel JW, Veklich Y, Gorkun O. The sequence of cleavage of fibrinopeptides from fibrinogen is important for protofibril formation and enhancement of lateral aggregation in fibrin clots. J Mol Biol. 1993;232:285-297.
5. McKee PA, Mattock P, Hill RL. Subunit structure of human fibrinogen, soluble fibrin, and crosslinked insoluble fibrin. Proc Natl Acad Sci U S A. 1970;66:738-744.
6. McDonagh RP Jr, McDonagh J, Duckert F. The influence of fibrin crosslinking on the kinetics of urokinase-induced clot lysis. Br J Haematol. 1971;21:323-332.
7. Gladner JA, Nossal R. Effects of crosslinking on the rigidity and proteolytic susceptibility of human fibrin clots. Thromb Res. 1983;30:273-288.
8. Shen LL, McDonagh RP, McDonagh J, Hermans J Jr. Fibrin gel structure: influence of calcium and covalent cross-linking on the elasticity. Biochem Biophys Res Commun. 1974;56:793-798.
9. Siebenlist KR, Mosesson MW. Progressive cross-linking of fibrin gamma chains increases resistance to fibrinolysis. J Biol Chem. 1994;269: 28414-28419.
10. Martinez J, Holburn, RR, Shapiro, SS, Erslev, AJ. Fibrinogen Philadelphia: a hereditary hypodysfibrinogenemia characterized by fibrinogen hypercatabolism. J Clin Invest. 1974;53:600-611.
11. Collen D, Tytgat GN, Claeys H, Piessens R. Metabolism and distribution of fibrinogen, I: fibrinogen turnover in physiological conditions in humans. Br J Haematol. 1972;22:681-700.
12. Ebert RF. Index of Variant Human Fibrinogens. Boca Raton, FL: CRC Press; 1991.
13. Martinez J, Ferber A. Disorders of Fibrinogen in Hematology-basic principles and practice. 4th ed. New York, NY: Churchill Livingstone; 2005: 2097-2109.
14. Matsuda M, Sugo T. Hereditary disorders of fibrinogen. Ann N Y Acad Sci. 2001;936:65-88.
15. Hanss M, Biot F. A database for human fibrinogen variants. Ann N Y Acad Sci. 2001;936:2001:89-90.
16. Brennan SO, Fellowes AP, George PM. Molecular mechanisms of hypo- and afibrinogenemia. Ann N Y Acad Sci. 2001;936:91-100.
17. Weisel JW. The electron microscope band pattern of human fibrin: various stains, lateral order, and carbohydrate localization. J Ultrastruct Mol Struct Res. 1986;96:176-188.
18. Langer BG, Weisel JW, Dinauer PA, Nagaswami C, Bell WR. Deglycosylation of fibrinogen accelerates polymerization and increases lateral aggregation of fibrin fibers. J Biol Chem. 1988;263: 15056-15063.
19. Baradet TC, Haselgrove JC, Weisel JW. Three-dimensional reconstruction of fibrin clot networks from stereoscopic intermediate voltage electron microscope images and analysis of branching. Biophys J. 1995;68:1551-1560.
20. Guex N, Peitsch MC. SWISS-MODEL and the Swiss-Pdb viewer: an environment for comparative protein modeling. Electrophoresis. 1997;18:2714-2724.
21. Yee VC, Pratt KP, Cote HC, et al. Crystal structure of a 30 kDa C-terminal fragment from the gamma chain of human fibrinogen. Structure. 1997;5:125-138.
22. Yang Z, Mochalkin I, Doolittle RF. A model of fibrin formation based on crystal structures of fibrinogen and fibrin fragments complexed with synthetic peptides. Proc Natl Acad Sci U S A. 2000;97:14156-14161.
23. Ryan EA, Mockros LF, Weisel JW, Lorand L. Structural origins of fibrin clot rheology. Biophys J. 1999;77:2813-2826.
24. Mosesson MW, Siebenlist KR, Amrani DL, DiOrio JP. Identification of covalently linked trimeric and tetrameric D domains in crosslinked fibrin. Proc Natl Acad Sci U S A. 1989;86:1113-1117.
25. Kant JA, Fornace AJ Jr, Saxe D, Simon MI, McBride OW, Crabtree GR. Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc Natl Acad Sci U S A. 1985;82:2344-2348.
26. Chung DW, Rixon MW, Que BG, Davie EW. Cloning of fibrinogen genes and their cDNA. Ann N Y Acad Sci. 1983;408:449-456.
27. Cote HC, Lord ST, Pratt KP. Gamma-chain dysfibrinogenemias: molecular structure-function relationships of naturally occurring mutations in the gamma chain of human fibrinogen. Blood. 1998;92:2195-2212.
28. Fowler WE, Hantgan RR, Hermans J, Erickson HP. Structure of the fibrin protofibril. Proc Natl Acad Sci U S A. 1981;78:4872-4876.
29. Pratt KP, Cote HC, Chung DW, Stenkamp RE, Davie EW. The primary fibrin polymerization pocket: three-dimensional structure of a 30-kDa C-terminal gamma chain fragment complexed with the peptide Gly-Pro-Arg-Pro. Proc Natl Acad Sci U S A. 1997;94:7176-7181.
30. Spraggon G, Everse SJ, Doolittle RF. Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin. Nature. 1997;389:455-462.
31. Mosesson MW, Siebenlist KR, DiOrio JP, Matsuda M, Hainfeld JF, Wall JS. The role of fibrinogen D domain intermolecular association sites in the polymerization of fibrin and fibrinogen Tokyo II (gamma 275 Arg → Cys). J Clin Invest. 1995;96:1053-1058.
32. Doolittle RF, Yang Z, Mochalkin I. Crystal structure studies on fibrinogen and fibrin. Ann N Y Acad Sci. 2001;936:31-43.
33. Weisel JW. Fibrin assembly. Lateral aggregation and the role of the two pairs of fibrinopeptides. Biophys J. 1986;50:1079-1093.
34. Weisel JW, Medved L. The structure and function of the alpha C domains of fibrinogen. Ann N Y Acad Sci. 2001;936:312-327.
35. Mosesson MW, Amrani DL, Menache D. Studies on the structural abnormality of fibrinogen Paris I. J Clin Invest. 1976;57:782-790.
36. Mosesson MW, Feldmann G, Menache D. Electron microscopy of fibrin Paris I. Blood. 1980;56:80-83.
37. Scheiner T, Jirouskova M, Nagaswami C, Coller BS, Weisel JW. A monoclonal antibody to the fibrinogen gamma-chain alters fibrin clot structure and its properties by producing short, thin fibers arranged in bundles. J Thromb Haemost. 2003;1:2594-2602.
38. Weisel JW, Nagaswami C. Computer modeling of fibrin polymerization kinetics correlated with electron microscope and turbidity observations: clot structure and assembly are kinetically controlled. Biophys J. 1992;63:111-128.
39. Yoshida N, Hirata H, Morigami Y, et al. Characterization of an abnormal fibrinogen Osaka V with the replacement of gamma-arginine 375 by glycine. The lack of high affinity calcium binding to D-domains and the lack of protective effect of calcium on fibrinolysis. J Biol Chem. 1992;267:2753-2759.
40. Ridgway HJ, Brennan SO, Loreth RM, George PM. Fibrinogen Kaiserslautern (gamma 380 Lys to Asn): a new glycosylated fibrinogen variant with delayed polymerization. Br J Haematol. 1997;99:562-569.
41. Gralnick HR, Coller BS, Fratantoni JC, Martinez J. Fibrinogen Bethesda III: a hypodysfibrinogenemia. Blood. 1979;53:28-46.
42. Ebert RF, Bell WR. Fibrinogen Baltimore II: congenital hypodysfibrinogenemia with delayed release of fibrinopeptide B and decreased rate of fibrinogen synthesis. Proc Natl Acad Sci U S A. 1983;80:7318-7322.
43. McDonagh RP, Carrell NA, Roberts HR, Blatt PM, McDonagh J. Fibrinogen Chapel Hill: hypodysfibrinogenemia with a tertiary polymerization defect. Am J Hematol. 1980;9:23-38.
44. Koopman J, Haverkate F, Grimbergen J, Egbring R, Lord ST. Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA → stop TAA). Blood. 1992;80:1972-1979.
45. Ridgway HJ, Brennan SO, Faed JM, George PM. Fibrinogen Otago: a major alpha chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage. Br J Haematol. 1997;98:632-639.
46. Okumura N, Terasawa F, Tanaka H, et al. Analysis of fibrinogen gamma-chain truncations shows the C-terminus, particularly gamma Ile387, is essential for assembly and secretion of this multichain protein. Blood. 2002;99:3654-3660.