Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen α3 chain

Nephrology Dialysis Transplantation

Volumn 19, Issue 8, 2004, Pages 2030-2035

  Persson, Ulf ^a   Hertz, Jens Michael ^b   Carlsson, Malin ^a   Hellmark, Thomas ^a   Juncker, Inger ^b   Wieslander, Jörgen ^c   Segelmark, Mårten ^a,d  

^a LUND UNIVERSITY   (Sweden)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c Wieslab AB   (Sweden)

^d LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

COL4A3 gene; Goodpasture's disease

Indexed keywords

COLLAGEN TYPE 4; HLA DQB1 ANTIGEN; HLA DR ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2;

ADULT; AGED; ALPHA CHAIN; AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; EXON; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENOTYPE; GOODPASTURE SYNDROME; HETEROZYGOTE; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN INTERACTION; PUBLICATION; RISK ASSESSMENT; SCANDINAVIA; SWEDEN; TISSUE TYPING; UNIVERSITY HOSPITAL;

ADOLESCENT; ADULT; AGED; ALLELES; ANTI-GLOMERULAR BASEMENT MEMBRANE DISEASE; AUTOANTIGENS; COLLAGEN TYPE IV; ENZYME-LINKED IMMUNOSORBENT ASSAY; EPITOPES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HLA-D ANTIGENS; HUMANS; MALE; MIDDLE AGED; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA; SEROEPIDEMIOLOGIC STUDIES; SWEDEN;

EID: 4344601924     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/gfh355     Document Type: Article

References (24)

1. Kluth DC, Rees AJ. Anti-glomerular basement membrane disease. J Am Soc Nephrol 1999; 10: 2446-2453
2. Levy JB, Turner AN, Rees AJ, Pusey CD. Long-term outcome of anti-glomerular basement membrane antibody disease treated with plasma exchange and immunosuppression. Ann Intern Med 2001; 134: 1033-1042
3. Lerner RA, Glassock RJ, Dixon H. The role of anti-glomerular basement membrane antibody in the pathogenesis of human glomerulohephritis. J Clin Invest 1967; 126: 989-1013
4. Hellmark T, Segelmark M, Unger C et al. Identification of a clinically relevant immunodominant region of collagen IV in Goodpasture disease. Kidney Int 1999; 55: 936-944
5. Segelmark M, Hellmark T, Wieslander J. The prognostic significance in Goodpasture's disease of specificity, titre and affinity of anti-glomerular-basement-membrane antibodies. Nephron Clin Pract 2003; 94: c59-68
6. Netzer KO, Leinonen A, Boutaud A et al. The Goodpasture autoantigen. Mapping the major conformational epitope(s) of alpha3(IV) collagen to residues 17-31 and 127-141 of the NC1 domain. J Biol Chem 1999; 274: 11267-11274
7. Gunnarsson A, Hellmark T, Wieslander J. Molecular properties of the Goodpasture epitope. J Biol Chem 2000; 275: 30844-30848
8. Borza DB, Bondar O, Todd P et al. Quaternary organization of the Goodpasture autoantigen, the alpha 3(IV) collagen chain. Sequestration of two cryptic autoepitopes by intrapromoter interactions with the alpha4 and alpha5 NC1 domains. J Biol Chem 2002; 277: 40075-40083
9. Segelmark M, Butkowski R, Wieslander J. Antigen restriction and IgG subclasses among anti-GBM autoantibodies. Nephrol Dial Transplant 1990; 5: 991-996
10. Marriott JB, Oliveira DB. Serial functional affinity of autoantibodies in anti-glomerular basement membrane disease. Clin Exp Immunol 1994; 95: 498-501
11. Phelps RG, Rees AJ. The HLA complex in Goodpasture's disease: a model for analyzing susceptibility to autoimmunity. Kidney Int 1999; 56: 1638-1653
12. Phelps RG, Jones V, Turner AN, Rees AJ. Properties of HLA class II molecules divergently associated with Goodpasture's disease. Int Immunol 2000; 12: 1135-1143
13. Phelps RG, Jones VL, Coughlan M, Turner AN, Rees AJ. Presentation of the Goodpasture autoantigen to CD4 T cells is influenced more by processing constraints than by HLA class II peptide binding preferences. J Biol Chem 1998; 273: 11440-11447
14. Cairns LS, Phelps RG, Bowie L et al. The fine specificity and cytokine profile of T-helper cells responsive to the alpha3 chain of type IV collagen in Goodpasture's disease. J Am Soc Nephrol 2003; 14: 2801-2812
15. Lemmink HH, Schroder CH, Monnens LA, Smeets HJ. The clinical spectrum of type IV collagen mutations. Hum Mutat 1997; 9: 477-499
16. Kalluri R, van den Heuvel LP, Smeets HJ et al. A C0L4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome. Kidney Int 1995; 47: 1199-1204
17. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215
18. Segelmark M, Wieslander J. IgG subclasses of antineutrophil cytoplasm autoantibodies (ANCA). Nephrol Dial Transplant 1993; 8: 696-702
19. Reynolds J, Cook PR, Ryan JJ et al. Segregation of experimental autoimmune glomerulonephritis as a complex genetic trait and exclusion of Col4a3 as a candidate gene. Exp Nephrol 2002; 10: 402-407
20. Jayne DR, Marshall PD, Jones SJ, Lockwood CM. Autoantibodies to GBM and neutrophil cytoplasm in rapidly progressive glomerulonephritis. Kidney Int 1990; 37: 965-970
21. Griffith ME, Pusey CD. HLA genes in ANCA-associated vasculitides. Exp Clin Immunogenet 1997; 14: 196-205
22. Bombassei GJ, Kaplan AA. The association between hydrocarbon exposure and anti-glomerular basement membrane antibody-mediated disease (Goodpasture's syndrome). Am J Indust Med 1992; 21: 141-153
23. Kalluri R, Cantley LG, Kerjaschki D, Neilson EG. Reactive oxygen species expose cryptic epitopes associated with autoimmune goodpasture syndrome. J Biol Chem 2000; 275: 20027-20032
24. Wong D, Phelps RG, Turner AN. The Goodpasture antigen is expressed in the human thymus. Kidney Int 2001; 60: 1777-1783