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Thromb Haemost 1995; 73(03): 333-339
DOI: 10.1055/s-0038-1653777
Review Articles
Schattauer GmbH Stuttgart

Regulatory Mechanism of the Factor IX Gene[*]

Kotoku Kurachi
The Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA
,
Sumiko Kurachi
The Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA
› Author Affiliations
Further Information

Publication History

Received21 September 1994

Accepted after revision 07 November 1994

Publication Date:
09 July 2018 (online)

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Supported by National Institutes of Health grant HL38644 to K.K. and funds from the Hemophilia Foundation of Michigan, in addition to the University of Michigan Multipurpose Arthritis and Musculoskeletal Disease Center (NIH-5-P60-AR20557), the Geriatric Center (NIH-P30-AG08808), and the General Clinical Research Center (NIH-M01-RR00042).


 

  • References

  • 1 Saito H. Normal hemostatic mechanisms. In: Disorders of Hemostasis, 2nd edition. Ratnoff OD, Forbes CD. eds Philadelphia: Saunders; 1991. pp 18-47
    Google Scholar
  • 2 Hedner U, Davie EW. Introduction to hemostasis and vitamin K-dependent coagulation factors. In: The Metabolic Basis of Inherited Diseases, 6th edition. Scriver CR, Beaudet AL, Sly WS, Valle D. eds New York: McGraw Hill; 1989. pp 2107-2134
    Google Scholar
  • 3 Giannelli F, Green PM, High KA, Sommer S, Poon MC, Ludwig M. Haemophilia B: database of point mutations and short additions and deletions- fourth edition, 1993. Nucleic Acids Res 1993; 21: 3075-3087
    CrossrefPubMedGoogle Scholar
  • 4 Roberts HR. Molecular biology of hemophilia B. Thromb Haemost 1993; 70: 1-9
    Article in Thieme ConnectPubMedGoogle Scholar
  • 5 Kurachi K, Kurachi S, Furukawa M, Yao S-N. Biology of factor IX. Blood Coagul Fibrinolysis 1993; 4: 953-974
    CrossrefPubMedGoogle Scholar
  • 6 Ginsburg D, Sadler JE. von Willebrand disease: a database of point mutations, insertions, and deletions. Thromb Haemost 1993; 69: 177-84
    Article in Thieme ConnectPubMedGoogle Scholar
  • 7 White CG, Shoemaker BC. Factor VIII gene and hemophilia A. Blood 1989; 73: 1-12
    PubMedGoogle Scholar
  • 8 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; 369: 64-67
    CrossrefPubMedGoogle Scholar
  • 9 Sun X, Evatt B, Griffin JH. Blood coagulation factor Va abnormality associated with resistance to activated protein C in venous thrombophilia. Blood 1994; 83: 3120-3125
    PubMedGoogle Scholar
  • 10 Otto JM, Grenett HE, Fuller GM. The coordinated regulation of fibrinogen gene transcription by hepatocyte-stimulating factor and dexamethasone. J Cell Biol 1987; 105: 1067-1072
    CrossrefPubMedGoogle Scholar
  • 11 Chodosh LA, Carthew RW, Morgan JG, Crabtree GR, Sharp PA. The adenovirus major late transcription factor activates the rat gamma-fibrinogen promoter. Science 1987; 238: 684-688
    CrossrefPubMedGoogle Scholar
  • 12 Courtois G, Morgan JG, Campbell LA, Fourel G, Crabtree GR. Interaction of a liver-specific nuclear factor with the fibrinogen and alpha 1-antitrypsin promoters. Science 1987; 238: 688-692
    CrossrefPubMedGoogle Scholar
  • 13 Bancroft JD, McDowell SA, Degen SJ. The human prothrombin gene: transcriptional regulation in HepG2 cells. Biochemistry 1992; 31: 12469-12476
    CrossrefPubMedGoogle Scholar
  • 14 Jamison CS, Degen SJ. Prenatal and postnatal expression of mRNA coding for rat prothrombin. Biochim Biophys Acta 1991; 1088: 208-216
    CrossrefPubMedGoogle Scholar
  • 15 Jamison CS, Burkey BF, Degen SJ. The effects of vitamin K1 and Warfarin on prothrombin expression in human hepatoblastoma (HepG2) cells. Thromb Haemost 1992; 68: 40-47
    Article in Thieme ConnectPubMedGoogle Scholar
  • 16 Miao CH, Leytus SP, Chung DW, Davie EW. Liver-specific expression of the gene coding for human factor X, a blood coagulation factor. J Biol Chem 1992; 267: 7395-7401
    PubMedGoogle Scholar
  • 17 Mackman NSawdey, Keeton MR, Loskutoff DJ. Murine tissue factor gene expression in vivo. Tissue and cell specificity and regulation by lipopolysaccharide Am J Pathol 1993; 143: 76-84
    PubMedGoogle Scholar
  • 18 Cui MZ, Parry GC, Edgington TS, Mackman N. Regulation of tissue factor gene expression in epithelial cells. Induction by serum and phorbol 12-myristate 13-acetate Arterioscler Thromb 1994; 14: 807-814
    CrossrefPubMedGoogle Scholar
  • 19 Bottles KD, Morrissey JH. Dexamethasone enhances agonist induction of tissue factor in monocytes but not in endothelial cells. Blood Coagul Fibrinolysis 1993; 4: 405-414
    CrossrefPubMedGoogle Scholar
  • 20 Kurachi K, Davie EW. Isolation and characterization of a cDNA coding for human factor IX. Proc Natl Acad Sci USA 1982; 79: 6461-6464
    CrossrefPubMedGoogle Scholar
  • 21 Choo KH, Gould KG, Rees DJ, Brownlee GG. Molecular cloning of the gene for human anti-haemophilic factor IX. Nature 1982; 299: 178-180
    CrossrefPubMedGoogle Scholar
  • 22 Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 1985; 24: 3736-3750
    CrossrefPubMedGoogle Scholar
  • 23 Chance PF, Dyer KA, Kurachi K, Yoshitake S, Ropers H, Wieacker P, Garder SM. Regional localization of human factor IX gene by molecular hybridization. Human Genetics 1983; 65: 207-208
    CrossrefPubMedGoogle Scholar
  • 24 Kurachi S, Furukawa M, Salier J-P, Wu C-T, Wilson EJ, French FS, Kurachi K. Regulatory mechanism of human factor IX gene: protein binding at the Leyden-specific region. Biochemistry 1994; 33: 1580-1591
    CrossrefPubMedGoogle Scholar
  • 25 Anson DC, Choo KH, Rees DJ G, Giannelli F, Gould K, Huddleston JA, Brownlee GG. The gene structure of human anti-haemophilic factor IX. EMBOJ 1984; 3: 1053-1060
    PubMedGoogle Scholar
  • 26 Salier J-P, Kurachi S, Kurachi K. Haemophilia B Leyden: natural rescues of a transient deficiency in transcription. Médecine Sciences 1994; 10: 186-194
    PubMedGoogle Scholar
  • 27 Evans JP, Watzke HH, Ware JL, Stafford PW, High KA. Molecular cloning of a cDNA encoding canine factor IX. Blood 1989; 74: 207-212
    PubMedGoogle Scholar
  • 28 Yao S-N, DeSilva AH, Kurachi S, Samuelson LC, Kurachi K. Characterization of a mouse factor IX cDNA and developmental regulation of the factor IX gene expression in liver. Thromb Haemost 1991; 65: 52-58
    Article in Thieme ConnectPubMedGoogle Scholar
  • 29 Drinkwater RD, Burgoyne LA, Skinner JD. Two human repetitive DNA elements: a new interspersed repeat found in the factor IX gene, and a satellite 11 tandem repeat sequence. Nucleic Acids Res 1986; 14: 9541
    CrossrefPubMedGoogle Scholar
  • 30 Sarkar G, Paynton C, Sommer SS. Segments containing alternating purine and pyrimidine dinucleotides: patterns of polymorphism in humans and prevalence throughout phylogeny. Nucleic Acids Res 1991; 19: 631-636
    CrossrefPubMedGoogle Scholar
  • 31 Sarkar G, Sommer SS. Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. Science 1989; 244: 331-334
    CrossrefPubMedGoogle Scholar
  • 32 Hassan JH, Chelucci C, Peschle C, Sorrentino V. Transforming growth factor b (TGF-b) inhibits expression of fibrinogen and factor VII in a hepatoma cell line. Thromb Haemost 1992; 67: 478-483
    Article in Thieme ConnectPubMedGoogle Scholar
  • 33 Jallat S, Perraud F, Dalemans W, Balland A, Dieterle A, Faure T, Meulien P, Pavirani A. Characterization of recombinant human factor IX expressed in transgenic mice and in derived trans-immortalized hepatic cell lines. EMBOJ 1990; 9: 3295-3301
    PubMedGoogle Scholar
  • 34 Andrew M, Vegh P, Johnston M, Bowker J, Ofosu F, Mitchell L. Maturation of the hemostatic system during childhood. Blood 1992; 80: 1998-2005
    CrossrefPubMedGoogle Scholar
  • 35 Andrew M, Paes B, Milner R, Johnston M, Mitchell L, Tollefsen DM, Powers P. Development of the human coagulation system in the full-term infant. Blood 1987; 70: 165-72
    PubMedGoogle Scholar
  • 36 Andrew M, Paes B, Milner R, Johnston M, Mitchell L, Tollefsen DM, Castle V, Powers P. Development of the human coagulation system in the healthy premature infant. Blood 1988; 72: 1651-1657
    CrossrefPubMedGoogle Scholar
  • 37 Hassan HJ, Leonardi A, Chelucci C, Mattia G, Macioce G, Guerriero R, Russo G, Mannucci PM, Peschle C. Blood coagulation factors in human embryonic-fetal development: preferential expression of the FVII/tissue factor pathway. Blood 1990; 76: 1158-1164
    PubMedGoogle Scholar
  • 38 Kisker CT, Robillard JE, Clarke WR. Development of blood coagulation- a fetal lamb model. PediatrRes 1981; 15: 1045-1050
    PubMedGoogle Scholar
  • 39 Hager K, Setzer J, Vogl T, Voit J, Platt D. Blood coagulation factors in the elderly. Arch Gerontol Geriatr 1989; 9: 277-282
    CrossrefPubMedGoogle Scholar
  • 40 Ibbotson SH, Tate GM, Davies JA. Thrombin activity by intrinsic activation of plasma in vitro accelerates with increasing age of the donor. Thromb Haemost 1992; 67: 377-380
    Article in Thieme ConnectPubMedGoogle Scholar
  • 41 Bauer KA, Weiss LM, Sparrow D, Vokonas PS, Rosenberg RD. Aging-associated changes in indices of thrombin generation and protein C activation in humans. Normative aging study J Clin Invest 1987; 80: 1527-1534
    CrossrefPubMedGoogle Scholar
  • 42 Hashimoto Y, Kobayashi A, Yamazaki N, Sugawara Y, Takada Y, Takada A. Relationship between age and plasma t-PA, PA-inhibitor and PA activity. Thromb Res 1987; 46: 625-633
    CrossrefPubMedGoogle Scholar
  • 43 Sweeney JD, Hoemig LA. Age-dependent effect on the level of factor IX. Am J Clin Pathol 1993; 99: 687-688
    CrossrefPubMedGoogle Scholar
  • 44 Hirosawa S, Fahner JB, Salier J-P, Wu C-T, Lovrien EW, Kurachi K. Structural and functional basis of the developmental regulation of human coagulation factor IX gene: Factor IX Leyden. Proc Natl Acad Sci USA 1990; 87: 4421-4215
    CrossrefPubMedGoogle Scholar
  • 45 Dombroski BA, Mathias SL, Nanthakumar E, Scott AF, Kazazian Jr HH. Isolation of an active human transposable element. Science 1991; 254: 1805-1808
    CrossrefPubMedGoogle Scholar
  • 46 Picketts DJ, Lillicrap DP, Mueller CR. Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation. Nat Genet 1993; 3: 175-179
    CrossrefPubMedGoogle Scholar
  • 47 Kurachi S, Kurachi K. Age and gender dependence of the factor IX gene expression in mice. Submitted for publication
    PubMedGoogle Scholar
  • 48 de laSalle, Charmantier J-L, Baas MJ, Schwartz A, Wiesel M-L, Grunebaum L, Cazenave J-P. A deletion located in the 3’ non translated part of the factor IX gene responsible for mild haemophilia B. Thromb Haemost 1993; 70: 370-371
    Article in Thieme ConnectPubMedGoogle Scholar
  • 49 Vielhaber E, Jacobson DP, Ketterling RP, Liu J-Z, Sommer SS. A mutation in the 3’ untranslated region of the factor IX gene in four families with hemophilia B. Hum Mol Genet 1993; 2: 1309-1310
    CrossrefPubMedGoogle Scholar
  • 50 Briet E, Bertina RM, van TilburgN, Veitkamp JJ. Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty. N Engl J Med 1982; 306: 788-790
    CrossrefPubMedGoogle Scholar
  • 51 Crossley M, Brownlee GG. Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B. Nature 1990; 345: 444-446
    CrossrefPubMedGoogle Scholar
  • 52 Crossley M, Ludwig M, Stowell KM, DeVox P, Olek K, Brownlee GG. Recovery from hemophilia B Leyden: an androgen response element in the factor IX promoter. Science 1992; 257: 377-379
    CrossrefPubMedGoogle Scholar
  • 53 Reijnen MJ, Sladek FM, Bertina RM, Reitsma PH. Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden. Proc Natl Acad Sci USA 1992; 89: 6300-6303
    CrossrefPubMedGoogle Scholar
  • 54 Vidaud D, Tartary M, Costa J-M, Bahnak BR, Gispert-Sanchez S, Fressinaud E, Gazengel C, Meyer D, Goossens M, Lavergne J-M, Vidaud M. Nucleotide substitutions at the 6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling. Hum Genet 1993; 91: 241-244
    PubMedGoogle Scholar