Influence of a GT repeat element on shear stress responsiveness of the VWF gene promoter

Journal of Thrombosis and Haemostasis

Volumn 6, Issue 7, 2008, Pages 1183-1190

  Hough, C ^a   Cameron, C L ^a   Notley, C R P ^a   Brown, C ^a   O'brien, L ^a   Keightley, A M ^a   Berber, E ^a   Lillicrap, David ^a  

^a QUEEN S UNIVERSITY   (Canada)

Author keywords

Dinucleotide repeat element; Endothelial; Shear stress; Von Willebrand factor

Indexed keywords

GUANINE; MESSENGER RNA; THYMINE; VON WILLEBRAND FACTOR;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; COW; DINUCLEOTIDE REPEAT; ENDOTHELIUM CELL; GENE EXPRESSION REGULATION; GENE INDUCTION; GENETIC TRANSFECTION; HAPLOTYPE; HUMAN; HUMAN CELL; LAMINAR FLOW; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; SHEAR STRESS; SINGLE NUCLEOTIDE POLYMORPHISM; TANDEM REPEAT; TRANSCRIPTION INITIATION;

ANIMALS; CATTLE; CELLS, CULTURED; ENDOTHELIAL CELLS; GENE EXPRESSION REGULATION; HUMANS; MICE; MUTAGENESIS, SITE-DIRECTED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); REPETITIVE SEQUENCES, NUCLEIC ACID; RNA, MESSENGER; STRESS, MECHANICAL; TRANS-ACTIVATION (GENETICS); TRANSFECTION; UMBILICAL VEINS; VON WILLEBRAND FACTOR;

EID: 45549109475     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.03011.x     Document Type: Article

References (36)

1. Gill JC, Endres-Brooks J, Bauer PJ, Marks WJ Jr, Montgomery RR. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 1987; 69: 1691-5.
2. Davies JA, Collins PW, Hathaway LS, Bowen DJ. Effect of von Willebrand factor Y/C1584 on in vivo protein level and function and interaction with ABO blood group. Blood 2007; 109: 2840-6.
3. Keightley AM, Lam YM, Brady JN, Cameron CL, Lillicrap D. Variation at the von Willebrand factor (vWF) gene locus is associated with plasma vWF:Ag levels: identification of three novel single nucleotide polymorphisms in the vWF gene promoter. Blood 1999; 93: 4277-83.
4. Zhang ZP, Deng LP, Blomback M, Anvret M. Dinucleotide repeat polymorphism in the promoter region of the human von Willebrand factor gene (vWF gene). Hum Mol Genet 1992; 1: 780.
5. RTch A, Zhang S. Timeline: Z-DNA: the long road to biological function. Nat Rev Genet 2003; 4: 566-72.
6. Rand JH, Badimon L, Gordon RE, Uson RR, Fuster V. Distribution of von Willebrand factor in porcine intima varies with blood vessel type and location. Arteriosclerosis 1987; 7: 287-91.
7. Jahroudi N, Lynch DC. Endothelial-cell-specific regulation of von Willebrand factor gene expression. Mol Cell Biol 1994; 14: 999-1008.
8. Peng Y, Jahroudi N. The NFY transcription factor functions as a repressor and activator of the von Willebrand factor promoter. Blood 2002; 99: 2408-17.
9. Hough C, Cuthbert CD, Notley C, Brown C, Hegadorn C, Berber E, Lillicrap D. Cell type-specific regulation of von Willebrand factor expression by the E4BP4 transcriptional repressor. Blood 2005; 105: 1531-9.
10. Aird WC, Edelberg JM, Weiler-Guettler H, Simmons WW, Smith TW, Rosenberg RD. Vascular bed-specific expression of an endothelial cell gene is programmed by the tissue microenvironment. J Cell Biol 1997; 138: 1117-24.
11. Pusztaszeri MP, Seelentag W, Bosman FT. Immunohistochemical expression of endothelial markers CD31, CD34, von Willebrand factor, and Fli-1 in normal human tissues. J Histochem Cytochem 2006; 54: 385-95.
12. Badimon L, Badimon JJ, Chesebro JH, Fuster V. von Willebrand factor and cardiovascular disease. Thromb Haemost 1993; 70: 111-18.
13. Wu QY, Drouet L, Carrier JL, Rothschild C, Berard M, Rouault C, Caen JP, Meyer D. Differential distribution of von Willebrand factor in endothelial cells. Comparison between normal pigs and pigs with von Willebrand disease. Arteriosclerosis 1987; 7: 47-54.
14. LaBarbera M. Principles of design of fluid transport systems in zoology. Science 1990; 249: 992-1000.
15. McCormick SM, Eskin SG, McIntire LV, Teng CL, Lu CM, Russell CG, Chittur KK. DNA microarray reveals changes in gene expression of shear stressed human umbilical vein endothelial cells. Proc Natl Acad Sci USA 2001; 98: 8955-60.
16. Dekker RJ, van Soest S, Fontijn RD, Salamanca S, de Groot PG, VanBavel E, Pannekoek H, Horrevoets AJ. Prolonged fluid shear stress induces a distinct set of endothelial cell genes, most specifically lung Kruppel-like factor (KLF2). Blood 2002; 100: 1689-98.
17. Nagel T, Resnick N, Dewey CF Jr, Gimbrone MA Jr. Vascular endothelial cells respond to spatial gradients in fluid shear stress by enhanced activation of transcription factors. Arterioscler Thromb Vasc Biol 1999; 19: 1825-34.
18. Khachigian LM, Resnick N, Gimbrone MA Jr, Collins T. Nuclear factor-kappa B interacts functionally with the platelet-derived growth factor B-chain shear-stress response element in vascular endothelial cells exposed to fluid shear stress. J Clin Invest 1995; 96: 1169-75.
19. Resnick N, Collins T, Atkinson W, Bonthron DT, Dewey CF Jr, Gimbron MA Jr. Platelet-derived growth factor B chain promoter contains a cis-acting fluid shear-stress-responsive element. Proc Natl Acad Sci USA 1993; 90: 4591-5.
20. Jaffe EA, Nachman RL, Becker CG, Minick CR. Culture of human endothelial cells derived from umbilical veins. Identification by morphologic and immunologic criteria. J Clin Invest 1973; 52: 2745-56.
21. O'Brien LA, James PD, Othman M, Berber E, Cameron C, Notley CR, Hegadorn CA, Sutherland JJ, Hough C, Rivard GE, O'Shaunessey D, Lillicrap D. Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. Blood 2003; 102: 549-57.
22. Frangos JA, Eskin SG, McIntire LV, Ives CL. Flow effects on prostacyclin production by cultured human endothelial cells. Science 1985; 227: 1477-9.
23. McCormick SM, Frye SR, Eskin SG, Teng CL, Lu CM, Russell CG, Chittur KK, McIntire LV. Microarray analysis of shear stressed endothelial cells. Biorheology 2003; 40: 5-11.
24. Goodeve AC, Eikenboom JC, Ginsburg D, Hilbert L, Mazurier C, Peake IR, Sadler JE, Rodeghiero F. A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor. Thromb Haemost 2001; 85: 929-31.
25. Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR. Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 1989; 77: 51-9.
26. Guan J, Guillot PV, Aird WC. Characterization of the mouse von Willebrand factor promoter. Blood 1999; 94: 3405-12.
27. Garcia-Cardena G, Comander J, Anderson KR, Blackman BR, Gimbrone MA Jr. Biomechanical activation of vascular endothelium as a determinant of its functional phenotype. Proc Natl Acad Sci USA 2001; 98: 4478-85.
28. Galbusera M, Zoja C, Donadelli R, Paris S, Morigi M, Benigni A, Figliuzzi M, Remuzzi G, Remuzzi A. Fluid shear stress modulates von Willebrand factor release from human vascular endothelium. Blood 1997; 90: 1558-64.
29. Osborn L, Kunkel S, Nabel GJ. Tumor necrosis factor alpha and interleukin 1 stimulate the human immunodeficiency virus enhancer by activation of the nuclear factor kappa B. Proc Natl Acad Sci USA 1989; 86: 2336-40.
30. Harvey PJ, Keightley AM, Lam YM, Cameron C, Lillicrap D. A single nucleotide polymorphism at nucleotide - 1793 in the von Willebrand factor (VWF) regulatory region is associated with plasma VWF: Ag levels. Br J Haematol 2000; 109: 349-53.
31. Rothenburg S, Koch-Nolte F, Haag F. DNA methylation and Z-DNA formation as mediators of quantitative differences in the expression of alleles. Immunol Rev 2001; 184: 286-98.
32. SenBanerjee S, Lin Z, Atkins GB, Greif DM, Rao RM, Kumar A, Feinberg MW, Chen Z, Simon DI, Luscinskas FW, Michel TM, Gimbrone MA Jr, Garcia-Cardena G, Jain MK. KLF2 is a novel transcriptional regulator of endothelial proinflammatory activation. J Exp Med 2004; 199: 1305-15.
33. Dekker RJ, van Thienen JV, Rohlena J, de Jager SC, Elderkamp YW, Seppen J, de Vries CJ, Biessen EA, van Berkel TJ, Pannekoek H, Horrevoets AJ. Endothelial KLF2 links local arterial shear stress levels to the expression of vascular tone-regulating genes. Am J Pathol 2005; 167: 609-18.
34. Dekker RJ, Boon RA, Rondaij MG, Kragt A, Volger OL, Elderkamp YW, Meijers JC, Voorberg J, Pannekoek H, Horrevoets AJ. KLF2 provokes a gene expression pattern that establishes functional quiescent differentiation of the endothelium. Blood 2006; 107: 4354-63.
35. Lin Z, Kumar A, SenBanerjee S, Staniszewski K, Parmar K, Vaughan DE, Gimbrone MA Jr, Balasubramanian V, Garcia-Cardena G, Jain MK. Kruppel-like factor 2 (KLF2) regulates endothelial thrombotic function. Circ Res 2005; 96: E48-57.
36. Rothenburg S, Koch-Nolte F, Rich A, Haag F. A polymorphic dinucleotide repeat in the rat nucleolin gene forms Z-DNA and inhibits promoter activity. Proc Natl Acad Sci USA 2001; 98: 8985-90.