Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus

Human Genetics

Volumn 117, Issue 2-3, 2005, Pages 220-227

  Blank, Marissa C ^a   Stefanescu, Radu N ^a   Masuda, Emi ^a   Marti, Francesc ^a   King, Philip D ^a,c   Redecha, Patricia B ^a   Wurzburger, Robert J ^a   Peterson, Margaret G E ^a   Tanaka, Shizuko ^a   Pricop, Luminita ^b,c  

^a HOSPITAL FOR SPECIAL SURGERY   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c Weill Cornell Graduate School of Biomedical Sciences   (United States)

Author keywords

FCGR2B; ITIM; Systemic lupus erythematosus; Transcriptional regulation

Indexed keywords

FC RECEPTOR; MUTANT PROTEIN; FCGR2A PROTEIN, HUMAN; FCGR2B PROTEIN, HUMAN; TRANSCRIPTION FACTOR AP 1;

AMINO ACID SUBSTITUTION; ARTICLE; B LYMPHOCYTE ACTIVATION; CONTROLLED STUDY; CORRELATION ANALYSIS; EUROPEAN AMERICAN; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HOMOZYGOSITY; HUMAN; IMMUNOPATHOGENESIS; MALE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FUNCTION; SEQUENCE ANALYSIS; STATISTICAL SIGNIFICANCE; SYSTEMIC LUPUS ERYTHEMATOSUS; B LYMPHOCYTE; BIOSYNTHESIS; DOWN REGULATION; GENETIC LINKAGE; GENETICS; HOMOZYGOTE; LYMPHOCYTE ACTIVATION; METABOLISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALIA;

B-LYMPHOCYTES; DOWN-REGULATION; HOMOZYGOTE; HUMANS; LINKAGE (GENETICS); LUPUS ERYTHEMATOSUS, SYSTEMIC; LYMPHOCYTE ACTIVATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); RECEPTORS, IGG; TRANSCRIPTION FACTOR AP-1; TRANSCRIPTION, GENETIC;

EID: 26944456633     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1302-3     Document Type: Article

References (32)

1. Amigorena S, Bonnerot C, Drake JR, Choquet D, Hunziker W, Guillet JG, Webster P, Sautes C, Mellman I, Fridman WH (1992) Cytoplasmic domain heterogeneity and functions of IgG Fc receptors in B lymphocytes. Science 256:1808-1812
2. Bolland S, Ravetch JV (2000) Spontaneous autoimmune disease in Fc(gamma)RIIB-deficient mice results from strain-specific epistasis. Immunity 13:277-285
3. + cell line. J Immunol 160:2145-2157
4. Chu ZT, Tsuchiya N, Kyogoku C, Ohashi J, Qian YP, Xu SB, Mao CZ, Chu JY, Tokunaga K (2004) Association of Fcgamma receptor IIb polymorphism with susceptibility to systemic lupus erythematosus in Chinese: A common susceptibility gene in the Asian populations. Tissue Antigens 63:21-27
5. Clopper CJPE (1934) The use of confidence or fiducial limits illustrated in the case of the binomial. Biometrika 26:404-413
6. Diegel ML, Rankin BM, Bolen JB, Dubois PM, Kiener PA (1994) Cross-linking of Fc gamma receptor to surface immunoglobulin on B cells provides an inhibitory signal that closes the plasma membrane calcium channel. J Biol Chem 269:11409-11416
7. Enyedy EJ, Mitchell JP, Nambiar MP, Tsokos GC (2001) Defective FcgammaRIIb1 signaling contributes to enhanced calcium response in B cells from patients with systemic lupus erythematosus. Clin Immunol 101:130-135
8. Greenwel P, Tanaka S, Penkov D, Zhang W, Olive M, Moll J, Vinson C, Di Liberto M, Ramirez F (2000) Tumor necrosis factor alpha inhibits type I collagen synthesis through repressive CCAAT/enhancer-binding proteins. Mol Cell Biol 20:912-918
9. Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40:1725
10. Jiang Y, Hirose S, Abe M, Sanokawa-Akakura R, Ohtsuji M, Mi X, Li N, Xiu Y, Zhang D, Shirai J, Hamano Y, Fujii H, Shirai T (2000) Polymorphisms in IgG Fc receptor IIB regulatory regions associated with autoimmune susceptibility. Immunogenetics 51:429-435
11. Kyogoku C, Dijstelbloem HM, Tsuchiya N, Hatta Y, Kato H, Yamaguchi A, Fukazawa T, Jansen MD, Hashimoto H, van de Winkel JG, Kallenberg CG, Tokunaga K (2002) Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: Contribution of FCGR2B to genetic susceptibility. Arthritis Rheum 46:1242-1254
12. Li X, Wu J, Carter RH, Edberg JC, Su K, Cooper GS, Kimberly RP (2003) A novel polymorphism in the Fcgamma receptor IIB (CD32B) transmembrane region alters receptor signaling. Arthritis Rheum 48:3242-3252
13. Liu Y, Masuda E, Blank MC, Kirou K, Gao X, Park MS, Pricop L (2005) Cytokine-mediated regulation of activating and inhibitory Fc{gamma} receptors in human monocytes. J Leukoc Biol 77:767-776
14. Luan JJ, Monteiro RC, Sautes C, Fluteau G, Eloy L, Fridman WH, Bach JF, Garchon HJ (1996) Defective Fc gamma RII gene expression in macrophages of NOD mice: Genetic linkage with up-regulation of IgG1 and IgG2b in serum. J Immunol 157:4707-4716
15. Magnusson V, Zunec R, Odeberg J, Sturfelt G, Truedsson L, Gunnarsson I, Alarcon-Riquelme ME (2004) Polymorphisms of the Fc gamma receptor type IIB gene are not associated with systemic lupus erythematosus in the Swedish population. Arthritis Rheum 50:1348-1350
16. Moser KL, Neas BR, Salmon JE, Yu H, Gray-McGuire C, Asundi N, Bruner GR, Fox J, Kelly J, Henshall S, Bacino D, Dietz M, Hogue R, Koelsch G, Nightingale L, Shaver T, Abdou NI, Albert DA, Carson C, Petri M, Treadwell EL, James JA, Harley JB (1998) Genome scan of human systemic lupus erythematosus: Evidence for linkage on chromosome 1q in African-American pedigrees. Proc Natl Acad Sci USA 95:14869-14874
17. Muta T, Kurosaki T, Misulovin Z, Sanchez M, Nussenzweig MC, Ravetch JV (1994) A 13-amino-acid motif in the cytoplasmic domain of Fc gamma RIIB modulates B-cell receptor signalling. Nature 369:340
18. Nishimura T, Narita T, Miyazaki E, Ito T, Nishimoto N, Yoshizaki K, Martial JA, Bellfroid EJ, Vissing H, Taniyama T (2001) Characterization of the human Fc gamma RIIB gene promoter: Human zinc-finger proteins (ZNF140 and ZNF91) that bind to different regions function as transcription repressors. Int Immunol 13:1075-1084
19. Phillips NE, Parker DC (1984) Cross-linking of B lymphocyte Fc gamma receptors and membrane immunoglobulin inhibits anti-immunoglobulin-induced blastogenesis. J Immunol 132:627-632
20. Pricop L, Redecha P, Teillaud JL, Frey J, Fridman WH, Sautes-Fridman C, Salmon JE (2001) Differential modulation of stimulatory and inhibitory Fc gamma receptors on human monocytes by Th1 and Th2 cytokines. J Immunol 166:531-537
21. Pritchard NR, Cutler AJ, Uribe S, Chadban SJ, Morley BJ, Smith KG (2000) Autoimmune-prone mice share a promoter haplotype associated with reduced expression and function of the Fc receptor FcgammaRII. Curr Biol 10:227-230
22. Prokunina L, Castillejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdottir H, Grondal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jonssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcon-Segovia D, Steinsson K, Alarcon-Riquelme ME (2002) A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 32:666-669 3 :666-669
23. Qiu WQ, de Bruin D, Brownstein BH, Pearse R, Ravetch JV (1990) Organization of the human and mouse low-affinity Fc gamma R genes: duplication and recombination. Science 248:732-735
24. Rudge EU, Cutler AJ, Pritchard NR, Smith KG (2002) Interleukin 4 reduces expression of inhibitory receptors on B cells and abolishes CD22 and Fc gamma RII-mediated B cell suppression. J Exp Med 195:1079-1085
25. Sarkar S, Schlottmann K, Cooney D, Coggeshall KM (1996) Negative signaling via FcgammaRIIB1 in B cells blocks phospholipase Cgamma2 tyrosine phosphorylation but not Syk or Lyn activation. J Biol Chem 271:20182-20186
26. Schlossman S (1995) White cell differentiation antigens. Oxford University Press, New York
27. Stefanescu RN, Olferiev M., Liu Y, Pricop L (2004) Inhibitory Fc gamma receptors: From gene to disease. J Clin Immunol 24:315-326
28. Su K, Wu J, Edberg JC, Li X, Ferguson P, Cooper GS, Langefeld CD, Kimberly RP (2004) A promoter haplotype of the immunoreceptor tyrosine-based inhibitory motif-bearing FcgammaRIIb alters receptor expression and associates with autoimmunity I. Regulatory FCGR2B polymorphisms and their association with systemic lupus erythematosus. J Immunol 172:7186-7191
29. Tsao BP (2000) Lupus susceptibility genes on human chromosome 1. Int Rev Immunol 19:319-334
30. Vyse TJ, Kotzin BL (1998) Genetic susceptibility to systemic lupus erythematosus. Annu Rev Immunol 16:261-292
31. Warmerdam PA, Nabben NM, van de Graaf SA, van de Winkel JG, Capel PJ (1993) The human low affinity immunoglobulin G Fc receptor IIC gene is a result of an unequal crossover event. J Biol Chem 268:7346-7349
32. Xiu Y, Nakamura K, Abe M, Li N, Wen XS, Jiang Y, Zhang D, Tsurui H, Matsuoka S, Hamano Y, Fujii H, Ono M, Takai T, Shimokawa T, Ra C, Shirai T, Hirose S (2002) Transcriptional regulation of Fcgr2b gene by polymorphic promoter region and its contribution to humoral immune responses. J Immunol 169:4340-4346