Endoplasmic reticulum aminopeptidase 1 (ERAP1) exhibits functionally significant interaction with HLA-B27 and relates to subtype specificity in ankylosing spondylitis

Annals of the Rheumatic Diseases

Volumn 71, Issue 4, 2012, Pages 589-595

  Haroon, Nigil ^a   Tsui, Florence W ^a   Uchanska Ziegler, Barbara ^b   Ziegler, Andreas ^b   Inman, Robert D ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOPEPTIDASE; ENDOPLASMIC RETICULUM AMINOPEPTIDASE 1; HLA ANTIBODY; HLA ANTIGEN CLASS 1; HLA B27 ANTIGEN; MONOCLONAL ANTIBODY; MONOCLONAL ANTIBODY RB4; SMALL INTERFERING RNA; UNCLASSIFIED DRUG;

ADULT; ANKYLOSING SPONDYLITIS; ANTIGEN BINDING; ANTIGEN SPECIFICITY; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME REPRESSION; FEMALE; GENETIC TRANSFECTION; GENOTYPE; HEAVY CHAIN; HUMAN; HUMAN CELL; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INTERACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AMINOPEPTIDASES; CELL LINE; FEMALE; FLOW CYTOMETRY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HLA-B27 ANTIGEN; HUMANS; MALE; MIDDLE AGED; MONOCYTES; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, SMALL INTERFERING; SEVERITY OF ILLNESS INDEX; SPONDYLITIS, ANKYLOSING;

EID: 84857924158     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2011-200347     Document Type: Article

References (32)

1. Khan MA. Update: the twenty subtypes of HLA-B27. Curr Opin Rheumatol 2000;12:235-8. (Pubitemid 30439673)
2. de Castro JA. HLA-B27-bound peptide repertoires: their nature, origin and pathogenetic relevance. Adv Exp Med Biol 2009;649:196-209.
3. Ziegler A, Loll B, Misselwitz R, et al. Implications of structural and thermodynamic studies of HLA-B27 subtypes exhibiting differential association with ankylosing spondylitis. Adv Exp Med Biol 2009;649:177-95.
4. Burton PR, Clayton DG, Cardon LR, et al. Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium (TASC). Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nature genetics 2007;39:1329-37. (Pubitemid 350041542)
5. Reveille JD, Sims AM, Danoy P, et al. Australo-Anglo-American Spondyloarthritis Consortium (TASC). Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nature genetics 2010;42:123-7.
6. Blanchard N, Shastri N. Coping with loss of perfection in the MHC class I peptide repertoire. Curr Opin Immunol 2008;20:82-8.
7. Hammer GE, Gonzalez F, Champsaur M, et al. The aminopeptidase ERAAP shapes the peptide repertoire displayed by major histocompatibility complex class I molecules. Nat Immunol 2006;7:103-12. (Pubitemid 41823874)
8. Tsui FW, Haroon N, Reveille JD, et al. Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. Ann Rheum Dis 2010;69:733-6.
9. Haroon N, Tsui FW, Chiu B, et al. Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms. J Rheumatol 2010;37:1907-10.
10. Haroon N, Inman RD. Endoplasmic reticulum aminopeptidases: Biology and pathogenic potential. Nat Rev Rheumatol 2010;6:461-7.
11. Colbert RA, DeLay ML, Layh-Schmitt G, et al. HLA-B27 misfolding and spondyloarthropathies. Adv Exp Med Biol 2009;649:217-34.
12. DeLay ML, Turner MJ, Klenk EI, et al. HLA-B27 misfolding and the unfolded protein response augment interleukin-23 production and are associated with Th17 activation in transgenic rats. Arthritis Rheum 2009;60:2633-43.
13. Kollnberger S, Chan A, Sun MY, et al. Interaction of HLA-B27 homodimers with KIR3DL1 and KIR3DL2, unlike HLA-B27 heterotrimers, is independent of the sequence of bound peptide. Eur J Immunol 2007;37:1313-22. (Pubitemid 46925315)
14. Raine T, Brown D, Bowness P, et al. Consistent patterns of expression of HLA class I free heavy chains in healthy individuals and raised expression in spondyloarthropathy patients point to physiological and pathological roles. Rheumatology (Oxford) 2006;45:1338-44. (Pubitemid 44605466)
15. Zemmour J, Little AM, Schendel DJ, et al. The HLA-A, B "negative" mutant cell line C1R expresses a novel HLA-B35 allele, which also has a point mutation in the translation initiation codon. J Immunol 1992;148:1941-8.
16. Calvo V, Rojo S, López D, et al. Structure and diversity of HLA-B27-specific T cell epitopes. Analysis with site-directed mutants mimicking HLA-B27 subtype polymorphism. J Immunol 1990;144:4038-45. (Pubitemid 20171221)
17. Urban RG, Chicz RM, Lane WS, et al. A subset of HLA-B27 molecules contains peptides much longer than nonamers. Proc Natl Acad Sci USA 1994;91:1534-8. (Pubitemid 24059047)
18. Ellis SA, Taylor C, McMichael A. Recognition of HLA-B27 and related antigen by a monoclonal antibody. Hum Immunol 1982;5:49-59. (Pubitemid 13130675)
19. Stam NJ, Vroom TM, Peters PJ, et al. HLA-A- and HLA-B-specific monoclonal antibodies reactive with free heavy chains in western blots, in formalin-fixed, paraffin-embedded tissue sections and in cryo-immuno-electron microscopy. Int Immunol 1990;2:113-25. (Pubitemid 20050409)
20. Rehm A, Rohr A, Seitz C, et al. Structurally diverse forms of HLA-B27 molecules are displayed in vivo in a cell type-dependent manner. Hum Immunol 2000;61:408-18. (Pubitemid 30164044)
21. Hillig RC, Hülsmeyer M, Saenger W, et al. Thermodynamic and structural analysis of peptide- and allele-dependent properties of two HLA-B27 subtypes exhibiting differential disease association. J Biol Chem 2004;279:652-63. (Pubitemid 38044870)
22. Evans DM, Spencer CC, Pointon JJ, et al. The Australo-Anglo-American Spondyloarthritis Consortium (TASC), the Wellcome Trust Case Control Consortium 2 (WTCCC2). Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nature genetics 2011;43:761-7.
23. Harvey D, Pointon JJ, Evans DM, et al. Investigating the genetic association between ERAP1 and ankylosing spondylitis. Hum Mol Genet 2009;18:4204-12.
24. Yamamoto N, Nakayama J, Yamakawa-Kobayashi K, et al. Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase (ALAP) gene and possible association with hypertension. Hum Mutat 2002;19:251-7. (Pubitemid 34195186)
25. Goto Y, Hattori A, Ishii Y, et al. Reduced activity of the hypertension-associated Lys528Arg mutant of human adipocyte-derived leucine aminopeptidase (A-LAP)/ER-aminopeptidase-1. FEBS Lett 2006;580:1833-8.
26. Evnouchidou I, Momburg F, Papakyriakou A, et al. The internal sequence of the peptide-substrate determines its N-terminus trimming by ERAP1. PLoS ONE 2008;3:e3658.
27. Evnouchidou I, Kamal RP, Seregin SS, et al. Coding single nucleotide polymorphisms of endoplasmic reticulum aminopeptidase 1 can affect antigenic peptide generation in vitro by influencing basic enzymatic properties of the enzyme. J Immunol 2011;186:1909-13.
28. Kollnberger S, Bird LA, Roddis M, et al. HLA-B27 heavy chain homodimers are expressed in HLA-B27 transgenic rodent models of spondyloarthritis and are ligands for paired Ig-like receptors. J Immunol 2004;173:1699-710. (Pubitemid 38971601)
29. Turner MJ, Delay ML, Bai S, et al. HLA-B27 up-regulation causes accumulation of misfolded heavy chains and correlates with the magnitude of the unfolded protein response in transgenic rats: Implications for the pathogenesis of spondylarthritis-like disease. Arthritis Rheum 2007;56:215-23. (Pubitemid 46106195)
30. Hearn A, York IA, Rock KL. The specificity of trimming of MHC class I-presented peptides in the endoplasmic reticulum. J Immunol 2009;183:5526-36.
31. Parham P, Antonelli P, Herzenberg LA, et al. Further studies on the epitopes of HLA-B7 defined by murine monoclonal antibodies. Hum Immunol 1986;15:44-67. (Pubitemid 16231533)
32. Daser A, Urlaub H, Henklein P. HLA-B27 binding peptides derived from the 57 kD heat shock protein of Chlamydia trachomatis: novel insights into the peptide binding rules. Mol Immunol 1994;31:331-6. (Pubitemid 24118602)