Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome

Journal of Clinical Investigation

Volumn 103, Issue 5, 1999, Pages 755-758

  Furukawa, Hiroshi ^a,b   Murata, Shigeo ^b,c   Yabe, Toshio ^a   Shimbara, Naoki ^d   Keicho, Naoto ^b   Kashiwase, Kouichi ^a   Watanabe, Kaoru ^a   Ishikawa, Yoshihide ^a   Akaza, Tatsuya ^a   Tadokoro, Kenji ^a   Tohma, Shigeto ^b   Inoue, Tetsufumi ^b   Tokunaga, Katsushi ^e   Yamamoto, Kazuhiko ^b   Tanaka, Keiji ^c   Juji, Takeo ^a  

^a JAPANESE RED CROSS MEDICAL CENTER   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^d SUMITOMO ELECTRIC INDUSTRIES LTD   (Japan)

^e UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; HLA ANTIGEN CLASS 1; TRANSPORTER ASSOCIATED WITH ANTIGEN PROCESSING; UNCLASSIFIED DRUG;

ANTIGEN EXPRESSION; ANTIGEN PRESENTATION; ARTICLE; BARE LYMPHOCYTE SYNDROME; CASE REPORT; CELL LINE; CELL SURFACE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INTRACELLULAR TRANSPORT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPLICEOSOME;

EID: 0033105718     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI5335     Document Type: Article

References (21)

1. Sadasivan, B., Lehner, P.J., Ortmann, B., Spies, T., and Cresswell, P. 1996. Roles for calreticulin and a novel glycoprotein, tapasin, in the interaction of MHC class I molecules with TAP. Immunity 5:103-114.
2. Ortmann, B., et al. 1997. A critical role for tapasin in the assembly and function of multimeric MHC class I-TAP complexes. Science, 277:1306-1309.
3. Hicklin, D.J., et al. 1998. Beta2-microglobulin mutations, HLA class I antigen loss, and tumor progression in melanoma. J. Clin. Invest. 101:2720-2729.
4. Kelly, A., et al. 1992. Assembly and function of the two ABC transported proteins encoded in the human major histocompatibility complex. Nature. 355:641-644.
5. Chen, H.L., et al. 1996. A functionally defective allele of TAP results in loss of MHC class I antigen presentation in a human lung cancer. Nat. Genet. 13:210-213.
6. Touraine, J.L. 1981. The bare-lymphocyte syndrome: report on the registry. Lancet. 1:319-321.
7. de la Salle, H., et al. 1994. Homozygous human TAP peptide transported mutation in HLA class I deficiency. Science. 265:237-241
8. Teisserenc, H., et al. 1997. A case of primary immunodeficiency due to a defect of the major histocompatibility gene complex class I processing and presentation pathway. Immunol. Lett. 57:183-187.
9. Maeda, H., et al. 1985. Defective expression of HLA class I antigens: a case of the bare lymphocyte without immunodeficiency. Immunogenetics. 21:549-558.
10. Hisamatsu, H., et al. 1996. Newly identified pair of proteasomal subunits regulated reciprocally by interferon gamma. J. Exp. Med. 183:1807-1816.
11. Shimbara, N., et al. 1997. Double-cleavage production of the CTL epitope by proteasomes and PA28: role of the flanking region. Genes Cells. 2:785-800.
12. Tanaka, K., and Kasahara, M. 1998. The MHC class I ligand-generating system: roles of immunoproceasomes and the interferon-gamma-inducible proteasome activator PA28. Immunol. Rev. 163:161-176.
13. Shapiro, M.B., and Senapathy, P. 1987. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15:7155-7174.
14. Gantla, S., et al. 1998. Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1. Am. J. Hum. Genet. 62:585-592.
15. Cresswell, P., and Hughes, E.A. 1997. Protein degradation: the ins and outs of the matter. Curr. Biol. 7:R552-R555.
16. Peh, C.A., et al. 1998. HLA-B27-restricted antigen presentation in the absence of tapasin reveals polymorphism in mechanisms of HLA class I peptide loading. Immunity. 8:531-542.
17. Lewis, J.W., Swell, A., Price, D., and Elliott, T. 1998. HLA-A*0201 presents TAP-dependent peptide epitopes to cytotoxic T lymphocytes in the absence of tapasin. Eur. J. Immunol. 28:3214-3220.
18. Furukawa, H., et al. 1998. Polymorphism of TAPASIN and its linkage disequilibria with HLA class II genes in the Japanese population. Tissue Antigens. 52:279-281.
19. Copeman, J., Bangia, N., Cross, J.C., and Cresswell, P. 1998. Elucidation of the genetic basis of the antigen presentation defects in the mutant cell line .220 reveals polymorphism and alternative splicing of the tapasin gene. Eur. J. Immunol. 28:3783-3791.
20. Van Kaer, L., Ashton-Rickardt, P.G., Ploegh, H.L., and Tonegawa, S. 1992. TAP mutant mice are deficient in antigen presentation, surface class I molecules, and CD4-8+ T cells. Cell. 71:1205-1214.
21. Furukawa, H., et al. 1999. Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP-deficient patient (bare lymphocyte syndrome type I). Hum. Immunol. 60:32-40.