Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter

Blood

Volumn 92, Issue 5, 1998, Pages 1639-1645

  Carew, Josephine A ^b   Pollak, Eleanor S ^b   High, Katherine A ^b   Bauer, Kenneth A ^a  

^a VA BOSTON HEALTHCARE SYSTEM   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 7; CYTOSINE; DNA; GUANINE; NUCLEAR PROTEIN; TRANSCRIPTION FACTOR SP1;

ADULT; ARTHROPATHY; ARTICLE; BINDING SITE; BLEEDING TENDENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CANADA; CASE REPORT; FAMILY STUDY; FRANCE; HEMARTHROSIS; HEPATOMA CELL; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; RACE;

EID: 0032170577     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.5.1639     Document Type: Article

References (44)

1. Fair DS: Quantitation of factor VII in the plasma of normal and warfarin-treated individuals by radioimmunoassay. Blood 62:784, 1983
2. Hagen FS, Gray CL, O'Hara P, Grant FJ, Saari GC, Woodbury RG, Hart CE, Insley M, Kisiel W, Kurachi K, Davie EW: Characterization of a cDNA coding for human factor VII. Proc Natl Acad Sci USA 83:2412, 1986
3. Colucci M, Balconi G, Lorenzet R, Pietra A, Locati D, Donati MB, Semeraro N: Cultured human endothelial cells generate tissue factor in response to endotoxin. J Clin Invest 71:1893, 1983
4. Bevilacqua MP, Pober JS, Majeau GR, Fiers W, Cotran RS, Gimbrone MA: Recombinant tumor necrosis factor induces procoagulant activity in cultured human vascular endothelium. Characterization and comparison with the actions of interleukin-1. Proc Natl Acad Sci USA 83:4533, 1986
5. Crossman DC, Carr DP, Tuddenham EGD, Pearson JD, McVey JH: The regulation of tissue factor mRNA in human endothelial cells in response to endotoxin or phorbol ester. J Biol Chem 265:9782, 1990
6. Osterud B, Rapaport SI: Activation of factor IX by the reaction product of tissue factor and factor VII: Additional pathway for initiating blood coagulation. Proc Natl Acad Sci USA 74:5260, 1977
7. Komiyama Y, Pedersen AH, Kisiel W: Proteolytic activation of human factors IX and X by recombinant human factor VIIa: Effects of calcium, phospholipids, and tissue factor. Biochem 29:9418, 1990
8. Ragni MV, Lewis JH, Spero JA, Hasiba U: Factor VII deficiency. Am J Hematol 10:79, 1981
9. Triplett, DA, Brandt JT, McGann Batard MA, Schaeffer Dixon JL, Fair DS: Hereditary factor VII deficiency: Heterogeneity defined by combined functional and immunochemical analysis. Blood 66:1284, 1985
10. O'Brien DP, Gale KM, Anderson JS, McVey JH, Miller GJ, Meade TW, Tuddenham EGD: Purification and characterization of factor VII 304-Gln: A variant molecule with reduced activity isolated from a clinically unaffected male. Blood 78:132, 1991
11. Takamiya O, Kemball-Cook G, Martin DMA, Cooper DN, von Feiten A, Meili E, Hann I, Prangnell DR, Lumley H, Tuddenham EGD, McVey JH: Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII. Hum Mol Genet 2:1355, 1993
12. Arbini AA, Bodkin D, Lopaciuk S, Bauer KA: Molecular analysis of Polish patients with factor VII deficiency. Blood 84:2214, 1994
13. Chaing S, Clarke B, Sridhara S, Chu K, Friedman P, VanDusen 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
14. Arbini AA, Mannucci PM, Bauer KA: A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. Blood 87:5085, 1996
15. Cooper DN, Millar DS, Wacey A, Banner DW, Tuddenham EGD: Inherited factor VII deficiency: Molecular genetics and pathophysiology. Thromb Haemost 78:151, 1997
16. Erdmann D, Heim J: Orphan nuclear receptor HNF-4 binds to the human coagulation factor VII promoter. J Biol Chem 270:22988, 1995
17. Greenberg D, Miao CH, Ho WT, Chung DW, Davie EW: Liver-specific expression of the human factor VII gene. Proc Natl Acad Sci USA 92:12347, 1995
18. Pollak ES, Hung HL, Godin G, Overton GC, High KA: Functional characterization of the human factor VII 5′ flanking region. J Biol Chem 271:1738, 1996
19. Arbini AA, Pollak ES, Bayleran JK, High KA, Bauer KA: Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter. Blood 89:176, 1997
20. Marchetti G, Patracchini P, Papacchini M, Ferrati M, Bernardi F: A polymorphism in the 5′ region of coagulation factor VII (F7) caused by an inserted decanucleotide. Hum Genet 90:575, 1993
21. Humphries S, Temple A, Lane A, Green F, Cooper J, Miller G: Low plasma levels of Factor VIIc and antigen are more strongly associated with the 10 base promoter (-323) insertion than the glutamine 353 variant. Thromb Haemost 75:567, 1996
22. Hunault M, Arbini AA, Lopaciuk S, Carew JA, Bauer KA: The Arg353Gln polymorphism reduces the level of coagulation factor VII: In vivo and in vitro studies. Arterioscler Thromb 17:2825, 1997
23. Long LA, Letendre AP, Colpron G: Hypoproconvetinémie congenitale. Acta Haematologica 13:242, 1955
24. Alexander B, Goldstein R, Landwehr G, Cook CD: Congenital SPCA deficiency: A hitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractions. J Clin Invest 30:596, 1951
25. Baribeau G: Hypoproconvertinémie congenitale. L'Union Medicalé du Canada 100:240, 1971
26. Kunkel LM, Smith KD, Boyer SH, Borganonkar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Rary JM: Analysis of human Y chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245, 1977
27. Sanger F, Nicklen S, Coulson AR: DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 74:5463, 1977
28. Dignam JD, Lebovitz RM, Roeder RG: Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei. Nucleic Acids Res 11:1475, 1983
29. Bradford MM: A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein dye binding. Anal Biochem 72:248, 1976
30. Chodosh L, Olesen J, Hahn S, Baldwin AS, Guarente L, Sharp P: A yeast and a human CCAAT-binding protein have heterologous subunits that are functionally interchangeable. Cell 53:25, 1988
31. Marchetti G, Ferrati M, Patracchini P, Redaelli R, Bernardi F: A missense mutation (178Cys-Tyr) and two neutral dimorphisms (115Hist and 333Ser) in the human coagulation factor VII gene. Hum Mol Genet 2:1055, 1993
32. Green F, Kelleher C, Wilkes H, Temple A, Meade T, Humphries S: A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arterioscler Thromb 11:540, 1991
33. Fair D, Marlar R: Biosynthesis and secretion of factor VII, protein C, protein S, and the protein C inhibitor from a human hepatoma cell line. Blood 67:64, 1986
34. Block KL, Sou Y, Poncz M: An Ets/Sp1 interaction in the 5′ flanking region of the megakaryocyte-specific alpha IIb gene appears to stabilize Sp1 binding and is essential for expression of this TATA-less gene. Blood 88:2071, 1996
35. Gregory RC, Taxman DJ, Seshasayee D, Kensinger MH, Bicker JJ, Wojchowski DM: Functional interaction of GATA-1 with erythroid Kruppel-like factor and Sp1 at defined erythroid promoters. Blood 87:1793, 1996
36. Athanikar JN, Sanchez HB, Osborne TF: Promoter selective transcriptional synergy mediated by sterol regulatory element binding protein and Sp1: A critical role for the Btd domain of Sp1. Mol Cell Biol 17:5193, 1997
37. Stauffer DR, Chukwumezie BN, Wilberding JA, Rosen ED, Castellino FJ: Characterization of transcriptional regulatory elements in the promoter region of the murine blood coagulation factor VII gene. J Biol Chem 273:2277, 1998
38. Kumar AP, Butler AP: Transcription factor Sp3 antagonizes activation of the ornithine decarboxylase promoter by Sp1. Nucleic Acids Res 25:2012, 1997
39. Bacon ER, Dalyot N, Filon D, Schreiber L, Rachmilewitz EA, Oppenheim A: Hemoglobin switching in humans is accompanied by changes in the ratio of the transcription factors. GATA-1 and Sp1. Mol Med 1:297, 1995
40. Letovsky J, Dynan WS: Measurement of the binding of transcription factor Sp1 to a single GC box recognition sequence. Nucleic Acids Res 17:2639, 1989
41. In KJ, Asano K, Beier D, Grobholz J, Rinn PW, Silverman EK, Silverman EE, Collins T, Fisher AR, Keith TP, Serino K, Kim SW, DeSanctis GT, Yandava C, Pillari A, Rubin P, Kemp J, Israel E, Busse W, Ledforti D, Murray JJ, Segal A, Tinkleman D, Drazen JM: Naturally occurring mutations in the human 5-lipoxygenase gene promoter that modify transcription factor binding and reporter gene transcription. J Clin Invest 99:1130, 1997
42. Sun S-M, Neuwirth C, Wade DP, Knight BL, Soutar AK: A mutation (T-45C) in the promoter region of the low-density-lipoprotein gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH). Hum Mol Genet 4:2125, 1995
43. Koivisto U-M, Palvimo JJ, Janne OA, Kontula K: A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia. Proc Natl Acad Sci USA 91:10526, 1994
44. Gumicio DL, Rood KL, Blanchard-McQuate KL, Gray TA, Saulino A, Collins FS: Interaction of Sp1 with human γ-globin promoter: Binding and transactivation of normal and mutant promoters. Blood 78:1853, 1991