Functional characterization of a 13-bp deletion (c.-1522--1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease

Blood

Volumn 116, Issue 18, 2010, Pages 3645-3652

  Othman, Maha ^a   Chirinian, Yvette ^a   Brown, Christine ^a   Notley, Colleen ^a   Hickson, Nicholas ^b   Hampshire, Daniel ^b   Buckley, Suzanne ^c   Waddington, Simon ^c   Parker, Alan L ^d   Baker, Andrew ^d   James, Paula ^a   Lillicrap, David ^a  

^a QUEEN S UNIVERSITY   (Canada)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSCRIPTION FACTOR ETS; TRANSCRIPTION FACTOR GATA; VON WILLEBRAND FACTOR;

ADULT; ANIMAL EXPERIMENT; ARTICLE; BASE PAIRING; BINDING SITE; CASE REPORT; CELL STRAIN HEPG2; CLINICAL FEATURE; DNA SEQUENCE; GENE; GENE DELETION; GENE EXPRESSION PROFILING; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MOUSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; SEQUENCE ANALYSIS; SYMPTOM; TRANSCRIPTION INITIATION SITE; TRANSGENE; VON WILLEBRAND DISEASE; VWF GENE;

EID: 78149339008     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2009-12-261131     Document Type: Article

References (32)

1. Ruggeri ZM. The role of von Willebrand factor in thrombus formation. Thromb Res. 2007;120(suppl 1):S5-9.
2. Sadler JE. von Willebrand factor: two sides of a coin. J Thromb Haemost. 2005;3(8):1702-1709.
3. James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood. 2007;109(1):145-154. (Pubitemid 46053055)
4. Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood. 2007;109(1):112-121.
5. Cumming A, Grundy P, Keeney S, et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost. 2006;96(5):630-641. (Pubitemid 44782544)
6. Schwachtgen JL, Janel N, Barek L, et al. Ets transcription factors bind and transactivate the core promoter of the von Willebrand factor gene. Oncogene. 1997;15(25):3091-3102.
7. Jahroudi N, Lynch DC. Endothelial-cell-specific regulation of von Willebrand factor gene expression. Mol Cell Biol. 1994;14(2):999-1008.
8. 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(5):1117-1124. (Pubitemid 27386460)
9. Peng Y, Jahroudi N. The NFY transcription factor functions as a repressor and activator of the von Willebrand factor promoter. Blood. 2002;99(7):2408-2417.
10. Ferreira V, Assouline Z, Schwachtgen JL, Bahnak BR, Meyer D, Kerbiriou-Nabias D. The role of the 5′-flanking region in the cell-specific transcription of the human von Willebrand factor gene. Biochem J. 1993;293(Pt 3):641-648.
11. Hough C, Cameron CL, Notley CR, et al. Influence of a GT repeat element on shear stress responsiveness of the VWF gene promoter. J Thromb Haemost. 2008;6(7):1183-1190.
12. Aird WC. Endothelium in health and disease. Pharmacol Rep. 2008;60(1):139-143.
13. Shi CX, Graham FL, Hitt MM. A convenient plasmid system for construction of helper-dependent adenoviral vectors and its application for analysis of the breast-cancer-specific mammaglobin promoter. J Gene Med. 2006;8(4):442-451.
14. Palmer D, Ng P. Improved system for helper-dependent adenoviral vector production. Mol Ther. 2003;8(5):846-852. (Pubitemid 37527461)
15. Matsui H, Shibata M, Brown B, et al. Ex vivo gene therapy for hemophilia A that enhances safe delivery and sustained in vivo factor VIII expression from lentivirally engineered endothelial progenitors. Stem Cells. 2007;25(10):2660-2669.
16. Hough C, Cuthbert CD, Notley C, et al. Cell type-specific regulation of von Willebrand factor expression by the E4BP4 transcriptional repressor. Blood. 2005;105(4):1531-1539.
17. Human Genome Variation Society: Nomenclature for the description of sequence variations. http://www.hgvs.org/mutnomen. Accessed December 22, 2009.
18. Goodeve AC, Eikenboom JC, Ginsburg D, et al. 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(5):929-931.
19. Alemany R, Suzuki K, Curiel DT. Blood clearance rates of adenovirus type 5 in mice. J Gen Virol. 2000;81(11):2605-2609.
20. Parker AL, Waddington SN, Nicol CG, et al. Multiple vitamin K-dependent coagulation zymogens promote adenovirus-mediated gene delivery to hepatocytes. Blood. 2006;108(8):2554-2561.
21. Waddington SN, McVey JH, Bhella D, et al. Adenovirus serotype 5 hexon mediates liver gene transfer. Cell. 2008;132(3):397-409.
22. Liu J, Kanki Y, Okada Y, et al. A+220 GATA motif mediates basal but not endotoxin-repressible expression of the von Willebrand factor promoter in Hprt-targeted transgenic mice. J Thromb Haemost. 2009;7(8):1384-1392.
23. Kontula K, Ehnholm C. Regulatory mutations in human lipoprotein disorders and atherosclerosis. Curr Opin Lipidol. 1996;7(2):64-68. (Pubitemid 26167016)
24. Antonarakis SE, Kazazian HH Jr, Orkin SH. DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet. 1985;69(1):1-14.
25. Forget BG. Molecular basis of hereditary persistence of fetal hemoglobin. Ann N Y Acad Sci. 1998;850:38-44.
26. Fang X, Sun J, Xiang P, et al. Synergistic and additive properties of the beta-globin locus control region (LCR) revealed by 5′HS3 deletion mutations: implication for LCR chromatin architecture. Mol Cell Biol. 2005;25(16):7033-7041.
27. Jahroudi N, Ardekani AM, Greenberger JS. An NF1-like protein functions as a repressor of the von Willebrand factor promoter. J Biol Chem. 1996;271(35):21413-21421.
28. Schwachtgen JL, Remacle JE, Janel N, et al. Oct-1 is involved in the transcriptional repression of the von willebrand factor gene promoter. Blood. 1998;92(4):1247-1258.
29. Ardekani AM, Greenberger JS, Jahroudi N. Two repressor elements inhibit expression of the von Willebrand factor gene promoter in vitro. Thromb Haemost. 1998;80(3):488-494.
30. 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(12):4277-4283.
31. Guan J, Guillot PV, Aird WC. Characterization of the Mouse von Willebrand Factor Promoter. Blood. 1999;94(10):3405-3412.
32. Kleinschmidt AM, Nassiri M, Stitt MS, et al. Sequences in intron 51 of the von Willebrand factor gene target promoter activation to a subset of lung endothelial cells in transgenic mice. J Biol Chem. 2008;283(5):2741-2750.