The T cell regulator gene SH2D2A contributes to the genetic susceptibility of multiple sclerosis

Genes and Immunity

Volumn 2, Issue 5, 2001, Pages 263-268

  Dai, K Z ^a   Harbo, H F ^a   Celius, E G ^b   Oturai, A ^c   Sorensen P S ^c   Ryder, L P ^c   Datta, P ^c   Svejgaard, A ^c   Hillert, J ^d   Fredrikson, S ^d   Sandberg Wollheim, M ^e   Laaksonen, M ^f   Myhr, K M ^g   Nyland, H ^g   Vartdal, F ^a   Spurkland, A ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^c Rigshospitalet   (Denmark)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e LUND UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY OF TURKU   (Finland)

^g HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

Adapter protein; Genetic susceptibility; Multiple sclerosis; Signal transduction; T cell

Indexed keywords

4 SULFOBENZALDEHYDE DEHYDROGENASE; 4-SULFOBENZALDEHYDE DEHYDROGENASE; ALDEHYDE DEHYDROGENASE; CARRIER PROTEIN; SH2D2A PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ALLELE; ARTICLE; BIOSYNTHESIS; CHROMOSOME 1; CHROMOSOME MAP; DINUCLEOTIDE REPEAT; ENZYMOLOGY; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; HUMAN; IMMUNOLOGY; METABOLISM; MULTIPLE SCLEROSIS; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; SRC HOMOLOGY DOMAIN; T LYMPHOCYTE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALDEHYDE DEHYDROGENASE; ALLELES; CARRIER PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; DINUCLEOTIDE REPEATS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); MULTIPLE SCLEROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); SRC HOMOLOGY DOMAINS; T-LYMPHOCYTES;

EID: 18044401969     PISSN: 14664879     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gene.6363774     Document Type: Article

References (30)

1. Tienari PJ. Multiple sclerosis: multiple etiologies, multiple genes? Ann Med 1994; 26: 259-269.
2. Chataway J, Feakes R, Coraddu F et al. The genetics of multiple sclerosis: principles, background and updated results of the United Kingdom systematic genome screen. Brain 1998; 121: 1869-1887.
3. Ebers GC, Kukay K, Bulman DE et al. A full genome search in multiple sclerosis. Nat Genet 1996; 13: 472-476.
4. Haines JL, Ter-Minassian M, Bazyk A et al. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet 1996; 13: 469-471.
5. Sawcer S, Jones HB, Feakes R et al. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet 1996; 13: 464-468.
6. Kuokkanen S, Gschwend M, Rioux JD et al. Genomewide scan of multiple sclerosis in Finnish multiplex families. Am J Hum Genet 1997; 61: 1379-1387.
7. Dyment DA, Sadovnick AD, Ebers GC. Genetics of multiple sclerosis. Hum Mol Genet 1997; 6: 1693-1698.
8. Spurkland A, Brinchmann JE, Markussen G et al. Molecular cloning of a T cell-specific adapter protein (TSAd) containing an Src homology (SH) 2 domain and putative SH3 and phosphotyrosine binding sites. J Biol Chem 1998; 273: 4539-4546.
9. Dai KZ, Vergnaud G, Ando A, Inoko H, Spurkland A. The SH2D2A gene encoding the T cell specific adapter protein (TSAd) is localized centromeric to the CD1 gene cluster on chromosome 1. Immunogenetics 2000; 51: 179-185.
10. Sundvold V, Torgersen KM, Post NH et al. Cutting edge: T cell-specific adapter protein inhibits T cell activation by modulating Ick activity. J Immunol 2000; 165: 2927-2931.
11. Sundvall M, Jirholt J, Yang HT et al. Identification of murine loci associated with susceptibility to chronic experimental auto-immune encephalomyelitis. Nat Genet 1995; 10: 313-317.
12. Teuscher C, Rhein DM, Livingstone KD et al. Evidence that Tmevd2 and eae3 may represent either a common locus or members of a gene complex controlling susceptibility to immunologically mediated demyelination in mice. J Immunol 1997; 159: 4930-4934.
13. Jirholt J, Cook A, Emahazion T et al. Genetic linkage analysis of collagen-induced arthritis in the mouse. Eur J Immunol 1998; 28: 3321-3328.
14. Holmdahl R. Genetics of susceptibility to chronic experimental encephalomyelitis and arthritis. Curr Opin Immunol 1998; 10: 710-717.
15. Kennedy GC, German MS, Rutter WJ. The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nat Genet 1995; 9: 293-298.
16. Yamada N, Yamaya M, Okinaga S et al. Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Am J Hum Genet 2000; 66: 187-195.
17. Lesch KP, Bengel D, Heils A et al. Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 1996; 274: 1527-1531.
18. Shimajiri S, Arima N, Tanimoto A et al. Shortened microsatellite d(CA)21 sequence down-regulates promoter activity of matrix metalloproteinase 9 gene. FEBS Lett 1999; 455: 70-74.
19. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517.
20. Greenberg DA. Linkage analysis of "necessary" disease loci versus "susceptibility" loci. Am J Hum Genet 1993; 52: 135-143.
21. Cargill M, Altshuler D, Ireland J et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999; 22: 231-238.
22. Poser CM, Paty DW, Scheinberg L et al. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol 1983; 13: 227-231.
23. Spurkland A, Celius EG, Knutsen I, Beiske A, Thorsby E, Vartdal F. The HLA-DQ (alpha 1*0102, beta 1*0602) heterodimer may confer susceptibility to multiple sclerosis in the absence of the HLA-DR(alpha 1*01, beta 1*1501) heterodimer. Tissue Antigens 1997; 50: 15-22.
24. Coligan JE, Kruisbeek AM, Margulies DH, Shevach EM, Strober W. Isolation of whole mononuclear cells from perpheral blood and cord blood. In: Coligan JE, Kruisbeek AM, Margulies DH, Shevach EM, Strober W, eds. Current Protocols in Immunology. Current Protocols (a joint venture between Greene Publishing Associates, Inc. and John Wiley & Sons, Inc.): New York, 1992, pp 7.1.1-7.1.7.
25. Lundberg KS, Shoemaker DD, Adams MW, Short JM, Sorge JA, Mathur EJ. High-fidelity amplification using a thermostable DNA polymerase isolated from Pyrococcus furiosus. Gene 1991; 108: 1-6.
26. Tiwari JL, Terasaki PI. The data and the statistical methods. In: Tiwari JL, Terasaki PI, (eds). HLA and Disease Associations. Springer Verlag: New York, 1985, pp 18-27.
27. Clayton D. A Generalization of the transmission/disequilibrium test for uncertain-haplotype transmission. Am J Hum Genet 1999; 65: 1170-1177.
28. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52: 506-516.
29. Holmans P, Clayton D. Efficiency of typing unaffected relatives in an affected-sib-pair linkage study with single-locus and multiple tightly linked markers. Am J Hum Genet 1995; 57: 1221-1232.
30. Kruglyak L, Lander ES. Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet 1995; 57: 439-454.