The Val34Leu polymorphism in the A subunit of coagulation factor XIII contributes to the large normal range in activity and demonstrates that the activation peptide plays a role in catalytic activity

Blood

Volumn 92, Issue 8, 1998, Pages 2766-2770

  Kangsadalampai, S ^a   Board, R G ^a  

^a AUSTRALIAN NATIONAL UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 13; DNA; LEUCINE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; THROMBIN; VALINE;

ADOLESCENT; ADULT; AGED; ALPHA CHAIN; AMINO ACID SUBSTITUTION; ARTICLE; AUSTRALIA; CATALYSIS; CAUCASIAN; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; INHERITANCE; MALE; PRIORITY JOURNAL;

EID: 0032532598     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.8.2766     Document Type: Article

References (27)

1. Folk JE, Finlayson JS: The ∈-(-γ-glutamyl)lysine crosslink and the catalytic role of transglutaminases. Adv Protein Chem 31:1, 1977
2. Board PG, Losowsky MS, Miloszewski KJA: Factor XIII: Inherited and acquired deficiency. Blood Rev 7:229, 1993
3. Schwartz ML, Pizzo SV, Hill RL, McKee PA: Human factor XIII from plasma and platelets. Molecular weights, subunit structures, proteolytic activation, and cross-linking of fibrinogen and fibrin. J Biol Chem 248:1395, 1973
4. Lorand L, Gray AJ, Brown K, Credo RB, Curtis CG, Domanik RA, Stenberg P: Dissociation of the subunit structure of fibrin stabilizing factor during activation of the zymogen. Biochem Biophys Res Commun 56:914, 1974
5. Schwartz ML, Pizzo SV, Hill RL, McKee PA: The subunit structures of human plasma and platelet factor XIII (fibrin-stabilizing factor). J Biol Chem 246:5851, 1971
6. Bohn H, Becker W, Trobisch H: Molecular structure of fibrin stabilizing factors in man. II. Comparative immunologie studies on factor XIII deficient plasma and normal plasma. Blut 26:303, 1973
7. Mary A, Achyuthan KE, Greenberg CS: b-chains prevent the proteolytic inactivation of the a-chains of plasma factor XIII. Biochim Biophys Acta 966:328, 1988
8. Hashiguchi T, Saito M, Morishita E, Matsuda T, Ichinose A: Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII. Blood 82:145, 1993
9. Board PG: Genetic polymorphism of the A subunit of human coagulation factor XIII. Am J Hum Genet 31:116, 1979
10. Ichinose A, Davie EW: Characterization of the gene for the A subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Natl Acad Sci USA 85:5829, 1988
11. Mikkola H, Syrjälä M, Rasi V, Vahtera A, Hämüläinen E, Peltonen L, Palotie A: Deficiency in the A subunit of coagulation factor XIII: Two novel point mutations demonstrate different effects on transcript levels. Blood 84:517, 1994
12. Suzuki K, Henke J, Iwata M, Henke L, Tsuji H, Fukunaga T, Ishimoto G, Szekelyi M, Ito S: Novel polymorphisms and haplotypes in the human coagulation factor XIII A subunit gene. Hum Genet 98:393, 1996
13. Dvilansky A, Britten AFH, Loewy AG: Factor XIII assay by an isotope method. I. Factor XIII (transamidase) in plasma, serum, leucocytes, erythrocytes and platelets and evaluation of screening tests of clot solubility. Br J Haematol 18:399, 1970
14. Castle S, Board PG, Anderson RAM: Genetic heterogeneity of factor XIII deficiency: First description of unstable A subunit. Br J Haematol 48:337, 1981
15. Fickenscher K, Aab A, Stuber W: A photometric assay for blood coagulation factor XIII. Thromb Haemost 65:535, 1991
16. Dempfle CE, Harenberg J, Hochreuter K, Heene DL: Microtiter assay for measurement of factor XIII activity in plasma. J Lab Clin Med 119:522, 1992
17. Wagner B, Seyfert UT, Gosse M, Wenzel E, Fickenscher K, Ruhl HG: Determination of factor XIII activity by a new photometric assay in plasma and platelets of healthy blood donors. Thromb Res 74:169, 1994
18. Castle SL, Board PG: Biochemical characterization of genetically variant and abnormal blood coagulation factor XIII A subunits. Clin Chim Acta 133:141, 1983
19. Kohler HP, Stickland MH, Ossei-Gerning N, Carter A, Mikkola H, Grant PJ: Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb Haemost 79:8, 1998
20. Mans R, Novelli GD: Measurement of the incorporation of radioactive amino acids into protein by a filter paper disk method. Arch Biochem Biophys 94:48, 1961
21. Lowry OH, Rosenbrough NJ, Fair AL, Randall RJ: Protein measurement with the tblin phenol reagent. J Biol Chem 193:265, 1951
22. Sherman F: Getting started with yeast. Methods Enzymol 194:3, 1991
23. Polymeropoulos MH, Rath DS, Xiao Ht Merril CR: Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1). Nucleic Acids Res 19:4306, 1991
24. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM: A common genetic variation in the 3′ untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 88:3698, 1996
25. Yee VC, Pedersen LC, Bishop PD, Stenkamp RE, Teller DC: Structural evidence that the activation peptide is not released upon thrombin cleavage of factor XIII. Thromb Res 78:389, 1995
26. Yee VC, Le Trong I, Bishop PD, Pedersen LC, Stenkamp RE, Teller DC: Structure and function studies of factor XIIIa by x-ray crystallography. Semin Thromb Hemost 22:377, 1996
27. Yee VC, Pedersen LC, Le Trong I, Bishop PD, Stenkamp RE, Teller DC: Three dimensional structure of a transglutaminase: Human blood coagulation factor XIII. Proc Natl Acad Sci USA 91:7296, 1994