Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'

Thrombosis and Haemostasis

Volumn 104, Issue 5, 2010, Pages 990-997

  Vorjohann, Silja ^a   Fish, Richard J ^a   Biron Andreani, Christine ^b   Nagaswami, Chandrasekaran ^c   Weisel, John W ^c   Boulot, Pierre ^b   Reyftmann, Lionel ^b   De Moerloose, Philippe ^d   Neerman Arbez, Marguerite ^a,d  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b MONTPELLIER UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Fibrinogen assembly; Fibrinogen secretion; Hypodysfibrinogenaemia; Mutation identification and expression

Indexed keywords

CELL EXTRACT; FIBRINOGEN; FIBRINOPEPTIDE A; GENOMIC DNA;

ADULT; ALLELE; ALPHA CHAIN; ANIMAL CELL; ANIMAL CELL CULTURE; ARTICLE; BLOOD SAMPLING; CASE REPORT; CELL SECRETION; CELL STRAIN COS7; DNA EXTRACTION; EXON; FEMALE; FIBRINOGEN DEFECT; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSFECTION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPODYSFIBRINOGENAEMIA; INTRON; MALE; MUTANT; MUTATIONAL ANALYSIS; NONHUMAN; POLYMERIZATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCANNING ELECTRON MICROSCOPY; WESTERN BLOTTING;

ADOLESCENT; ADULT; AFIBRINOGENEMIA; ANIMALS; BLOOD COAGULATION; BLOOD COAGULATION TESTS; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; FIBRINOGEN; FIBRINOGENS, ABNORMAL; FIBRINOPEPTIDE A; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INTRONS; MALE; MICROSCOPY, ELECTRON, SCANNING; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN MULTIMERIZATION; RNA SPLICING; TRANSFECTION; YOUNG ADULT;

EID: 78149479879     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-03-0161     Document Type: Article

References (29)

1. Kant JA, Fornace AJ, Jr., Saxe D, et al. Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc Natl Acad Sci USA 1985; 82: 2344-2348.
2. Redman CM, Xia H. Fibrinogen biosynthesis. Assembly, intracellular degradation, and association with lipid synthesis and secretion. Ann NY Acad Sci 2001; 936: 480-495.
3. Mosesson MW, Siebenlist KR, Meh DA. The structure and biological features of fibrinogen and fibrin. Ann NY Acad Sci 2001; 936: 11-30.
4. Blomback M, Blomback B, Mammen EF, et al. Fibrinogen Detroit - a molecular defect in the N-terminal disulphide knot of human fibrinogen? Nature 1968; 218: 134-137.
5. Hanss M, Biot F. A database for human fibrinogen variants. Ann NY Acad Sci 2001; 936: 89-90.
6. Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995; 73: 151-161.
7. Galanakis DK. Inherited dysfibrinogenemia: emerging abnormal structure associations with pathologic and nonpathologic dysfunctions. Semin Thromb Hemost 1993; 19: 386-395.
8. Maghzal GJ, Brennan SO, Homer VM, et al. The molecular mechanisms of congenital hypofibrinogenaemia. Cell Mol Life Sci 2004; 61: 1427-1438.
9. Neerman-Arbez M, de Moerloose P. Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. Hum Mutat 2007; 28: 540-553.
10. Neerman-Arbez M, de Moerloose P, Bridel C, et al. Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. Blood 2000; 96: 149-152.
11. Asselta R, Duga S, Tenchini ML. The molecular basis of quantitative fibrinogen disorders. J Thromb Haemost 2006; 4: 2115-2129.
12. Ho SN, Hunt HD, Horton RM, et al. Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 1989; 77: 51-59.
13. Neerman-Arbez M, Germanos-Haddad M, Tzanidakis K, et al. Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. Blood 2004; 104: 3618-3623.
14. Vu D, de Moerloose P, Batorova A, et al. Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion. J Med Genet 2005; 42: e57.
15. Brennan SO, Hammonds B, George PM. Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (A alpha 20 Val - > Asp). J Clin Invest 1995; 96: 2854-2858.
16. Brennan SO, Davis RL, Chitlur M. New fibrinogen substitution (gammaSer313Arg) causes diminished gamma chain expression and hypodysfibrinogenaemia. Thromb Haemost 2010; 103: 478-479.
17. 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.
18. Nation JL. A new method using hexamethyldisilazane for preparation of soft insect tissues for scanning electron microscopy. Stain Technol 1983; 58: 347-351.
19. Rogozin IB, Milanesi L. Analysis of donor splice sites in different eukaryotic organisms. J Mol Evol 1997; 45: 50-59.
20. Weisel JW. Fibrinogen and fibrin. Adv Protein Chem 2005; 70: 247-299.
21. Emanuelsson O, Brunak S, von Heijne G, Nielsen H. Locating proteins in the cell using TargetP, SignalP and related tools. Nat Protoc 2007; 2: 953-971.
22. Zhang JZ, Redman CM. Assembly and secretion of fibrinogen. Involvement of amino-terminal domains in dimer formation. J Biol Chem 1996; 271: 12674-12680.
23. Koppert PW, Huijsmans CM, Nieuwenhuizen W. A monoclonal antibody, specific for human fibrinogen, fibrinopeptide A-containing fragments and not reacting with free fibrinopeptide A. Blood 1985; 66: 503-507.
24. Blomback B, Hessel B, Hogg D, et al. A two-step fibrinogen - fibrin transition in blood coagulation. Nature 1978; 275: 501-505.
25. Flood VH, Nagaswami C, Chernysh IN, et al. Incorporation of fibrin molecules containing fibrinopeptide A alters clot ultrastructure and decreases permeability. Br J Haematol 2007; 138: 117-124.
26. Litvinov RI, Gorkun OV, Galanakis DK, et al. Polymerization of fibrin: Direct observation and quantification of individual B:b knob-hole interactions. Blood 2007; 109: 130-138.
27. Geer CB, Tripathy A, Schoenfisch MH, et al. Role of 'B-b' knob-hole interactions in fibrin binding to adsorbed fibrinogen. J Thromb Haemost 2007; 5: 2344-2351.
28. Okumura N, Terasawa F, Haneishi A, et al. B:b interactions are essential for polymerization of variant fibrinogens with impaired holes 'a'. J Thromb Haemost 2007; 5: 2352-2359.
29. Liu CY, Koehn JA, Morgan FJ. Characterization of fibrinogen New York 1. A dysfunctional fibrinogen with a deletion of B beta(9-72) corresponding exactly to exon 2 of the gene. J Biol Chem 1985; 260: 4390-4396.