The -564 A/G polymorphism in the promoter region of the proteinase 3 gene associated with Wegener's granulomatosis does not increase the promoter activity

Clinical and Experimental Immunology

Volumn 138, Issue 2, 2004, Pages 266-270

  Pieters, Katrien ^a,b   Pettersson, A ^a   Gullberg, U ^a   Hellmark, T ^a  

^a LUND UNIVERSITY   (Sweden)

^b BMC C14 ^*  (Sweden)

Author keywords

ANCA; Promoter, proteinase 3; Vasculitis; Wegener's granulomatosis

Indexed keywords

AUTOANTIGEN; GENOMIC DNA; MESSENGER RNA; MYELOBLASTIN; NEUTROPHIL CYTOPLASMIC ANTIBODY; TRANSCRIPTION FACTOR SP1;

ARTICLE; BINDING SITE; BONE MARROW CULTURE; CELL STRAIN HL 60; CELL STRAIN NB 4; CELL STRAIN U937; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; GENE EXPRESSION REGULATION; HELA CELL; HUMAN; HUMAN CELL; MUTAGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION; WEGENER GRANULOMATOSIS;

ANTIBODIES, ANTINEUTROPHIL CYTOPLASMIC; CELL LINE, TUMOR; HELA CELLS; HL-60 CELLS; HUMANS; MYELOBLASTIN; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SERINE ENDOPEPTIDASES; TRANSCRIPTION, GENETIC; TRANSFECTION; U937 CELLS; WEGENER GRANULOMATOSIS;

EID: 8144227714     PISSN: 00099104     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2249.2004.02608.x     Document Type: Article

References (32)

1. Hellmich B, Csernok E, Gross WL. 20 years with ANCA (antineutrophil cytoplasmic autoantibodies): from seromarker to a major pathogenic player in vasculitis. J Leukoc Biol 2003; 74:1-2.
2. Tervaert JW, van der Woude FJ, Fauci AS et al. Association between active Wegener's granulomatosis and anticytoplasmic antibodies. Arch Intern Med 1989; 149:2461-5.
3. Kallenberg CG, Brouwer E, Weening JJ et al. Anti-neutrophil cytoplasmic antibodies: current diagnostic and pathophysiological potential. Kidney Int 1994; 46:1-15.
4. Witko-Sarsat V, Cramer EM, Hieblot C et al. Presence of proteinase 3 in secretory vesicles: evidence of a novel, highly mobilizable intracellular pool distinct from azurophil granules. Blood 1999; 94:2487-96.
5. Csernok E, Ernst M, Schmitt W et al. Activated neutrophils express proteinase 3 on their plasma membrane in vitro and in vivo. Clin Exp Immunol 1994; 95:244-50.
6. Witko-Sarsat V, Lesavre P, Lopez S et al. A large subset of neutrophils expressing membrane proteinase 3 is a risk factor for vasculitis and rheumatoid arthritis. J Am Soc Nephrol 1999; 10:1224-33.
7. Rarok AA, Stegeman CA, Limburg PC et al. Neutrophil membrane expression of proteinase 3 (PR3) is related to relapse in PR3-ANCA-associated vasculitis. J Am Soc Nephrol 2002; 13:2232-8.
8. Ben-Smith A, Dove SK, Martin A et al. Antineutrophil cytoplasm autoantibodies from patients with systemic vasculitis activate neutrophils through distinct signaling cascades: comparison with conventional Fegamma receptor ligation. Blood 2001; 98:1448-55.
9. Yang JJ, Tuttle RH, Hogan SL et al. Target antigens for anti-neutrophil cytoplasmic autoantibodies (ANCA) are on the surface of primed and apoptotic but not unstimulated neutrophils. Clin Exp Immunol 2000; 121:165-72.
10. Baslund B, Petersen J, Permin H et al. Measurements of proteinase 3 and its complexes with alpha 1-proteinase inhibitor and anti-neutrophil cytoplasm antibodies (ANCA) in plasma. J Immunol Meth 1994; 175:215-25.
11. Henshaw TJ, Malone CC, Gabay JE et al. Elevations of neutrophil proteinase 3 in serum of patients with Wegener's granulomatosis and polyarteritis nodosa. Arthritis Rheum 1994; 37:104-12.
12. Ohlsson S, Wieslander J, Segelmark M. Increased circulating levels of proteinase 3 in patients with anti-neutrophilic cytoplasmic autoantibodies- associated systemic vasculitis in remission. Clin Exp Immunol 2003; 131:528-35.
13. Ohlsson S, Hellmark T, Pieters K et al. Increased monocyte transcription of the proteinase 3 gene, cause or consequence of ANCA associated vasculitis? J Am Soc Nephrol 2003; 14:634A.
14. Sturrock A, Franklin KF, Hoidal JR. Human proteinase-3 expression is regulated by PU.1 in conjunction with a cytidine-rich element. J Biol Chem 1996; 271:32392-402.
15. Lutz PG, Moog-Lutz C, Coumau-Gatbois E et al. Myeloblastin is a granulocyte colony-stimulating factor-responsive gene conferring factor-independent growth to hematopoietic cells. Proc Natl Acad Sci USA 2000; 97:1601-6.
16. Lutz PG, Houzel-Charavel A, Moog-Lutz C et al. Myeloblastin is an Myb target gene: mechanisms of regulation in myeloid leukemia cells growth-arrested by retinoic acid. Blood 2001; 97:2449-56.
17. Gencik M, Meller S, Borgmann S et al. Proteinase 3 gene polymorphisms and Wegener's granulomatosis. Kidney Int 2000; 58:2473-7.
18. Reynolds WF, Stegeman CA, Cohen Tervaert JW. -463 G/A myeloperoxidase promoter polymorphism is associated with clinical manifestations and the course of disease in MPO-ANCA-associated vasculitis. Clin Immunol 2002; 103:154-60.
19. Morishita K, Tsuchiya M, Asano S et al. Chromosomal gene structure of human myeloperoxidase and regulation of its expression by granulocyte colony-stimulating factor. J Biol Chem 1987; 262:15208-13.
20. Barik S. Site-directed mutagenesis by double polymerase chain reaction: megaprimer method. In: White BA, ed. Methods in molecular biology, vol. 15. Totowa, NJ: Humana Press Inc., 1993:277-86.
21. Ginzinger DG. Gene quantification using real-time quantitative PCR: an emerging technology hits the mainstream. Exp Hematol 2002; 30:503-12.
22. Lennartsson A, Pieters K, Ullmark T et al. AM-1, PU. 1, and Sp3 regulate expression of human bactericidal/permeability-increasing protein. Biochem Biophys Res Commun 2003; 311:853-63.
23. Rao NV, Rao GV, Marshall BC et al. Biosynthesis and processing of proteinase 3 in U937 cells. J Biol Chem 1996; 271:2972-8.
24. Labbaye C, Zhang J, Casanova JL et al. Regulation of myeloblastin messenger RNA expression in myeloid leukemia cells treated with alltrans retinoic acid. Blood 1993; 81:475-81.
25. Bories D, Raynal MC, Solomon DH et al. Down-regulation of a serine protease, myeloblastin, causes growth arrest and differentiation of promyelocytic leukemia cells. Cell 1989; 59:959-68.
26. Halbwachs-Mecarelli L, Bessou G, Lesavre P et al. Bimodal distribution of proteinase 3 (PR3) surface expression reflects a constitutive heterogeneity in the polymorphonuclear neutrophil pool. FEBS Lett 1995; 374:29-33.
27. Chen T, Meier R, Ziemiecki A et al. Myeloblastin/proteinase 3 belongs to the set of negatively regulated primary response genes expressed during in vitro myeloid differentiation. Biochem Biophys Res Commun 1994; 200:1130-5.
28. Fiebeler A, Borgmann S, Woywodt A et al. No association of G-463A myeloperoxidase gene polymorphism with MPO-ANCA-associated vasculitis. Nephrol Dial Transplant 2004; 19:969-71.
29. Piedrafita FJ, Molander RB, Vansant G et al. An Alu element in the myeloperoxidase promoter contains a composite SP1-thyroid hormone-retinoic acid response element. J Biol Chem 1996; 271:14412-20.
30. Segal R, Berk AJ. Promoter activity and distance constraints of one versus two Sp1 binding sites. J Biol Chem 1991; 266:20406-11.
31. van der Geld YM, Limburg PC, Kallenberg CG. Proteinase 3, Wegener's autoantigen: from gene to antigen. J LeukocBiol 2001; 69:177-90.
32. Lin KM, Austin GE. Functional activity of three distinct myeloperoxidase (MPO) promoters in human myeloid cells. Leukemia 2002; 16:1143-53.