A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients (original) (raw)

References

  1. de Preval, C., Lisowska-Grospierre, B., Loche, M., Griscelli, C. & Mach, B. A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes. Nature 318, 291–293 (1985).
    Article CAS Google Scholar
  2. Mach, B., Steimle, V., Martinez-Soria, E. & Reith, W. Regulation of MHC class II genes: lessons from a disease. Annu. Rev. Immunol. 14, 301–331 (1996).
    Article CAS Google Scholar
  3. Benichou, B. & Strominger, J.L. Class II-antigen-negative patient and mutant B-cell lines represent at least three, and probably four, distinct genetic defects defined by complementation analysis. Proc. Natl Acad. Sci. USA 88, 4285–4288 (1991).
    Article CAS Google Scholar
  4. Seidl, C., Saraiya, C., Osterweil, Z., Fu, Y.P. & Lee, J.S. Genetic complexity of regulatory mutants defective for HLA class-II gene expression. J. Immunol. 148, 1576–1584 (1992).
    CAS PubMed Google Scholar
  5. Lisowska-Grospierre, B., Fondaneche, M.C., Rols, M.P., Griscelli, C. & Fischer, A. Two complementation groups account for most cases of inherited MHC class II deficiency. Hum. Mol. Genet. 3, 953–958 (1994).
    Article CAS Google Scholar
  6. Steimle, V., Otten, L.A., Zufferey, M. & Mach, B. Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency. Cell 75, 135– 146 (1993).
    Article CAS Google Scholar
  7. Steimle, V. et al. A novel DNA binding regulatory factor is mutated in primary MHC class II deficiency (Bare Lymphocyte Syndrome). Genes Dev. 9, 1021–1032 (1995).
    Article CAS Google Scholar
  8. Durand, B. et al. RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J. 16, 1045–1055 (1997).
    Article CAS Google Scholar
  9. Steimle, V., Siegrist, C.-A., Mottet, A., Lisowska-Grospierre, B. & Mach, B. Regulation of MHC class II expression by interferon-γ mediated by the transactivator gene CIITA. Science 265, 106– 109 (1994).
    Article CAS Google Scholar
  10. Reith, W. et al. Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X. Cell 53, 897–906 (1988).
    Article CAS Google Scholar
  11. Herrero Sanchez, C., Reith, W., Silacci, P. & Mach, B. The DNA-binding defect observed in major histocompatibility complex class II regulatory mutants concerns only one member of a family of complexes binding to the X boxes of class II promoters. Mol. Cell. Biol. 12, 4076– 4083 (1992).
    Article CAS Google Scholar
  12. Villard, J. et al. Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. N. Engl. J. Med. 337, 748–753 (1997).
    Article CAS Google Scholar
  13. Reith, W. et al. Cooperative binding between factors RFX and X2bp to the X and X2 boxes of MHC class II promoters. J. Biol. Chem. 269, 20020–20025 (1994).
    CAS PubMed Google Scholar
  14. Reith, W., Siegrist, C.A., Durand, B., Barras, E. & Mach, B. Function of major histocompatibility complex class II promoters requires cooperative binding between factors RFX and NF-Y. Proc. Natl Acad. Sci. USA 91, 554–558 (1994).
    Article CAS Google Scholar
  15. Durand, B., Kobr, M., Reith, W. & Mach, B. Functional complementation of MHC class II regulatory mutants by the purified X box binding protein RFX. Mol. Cell. Biol. 14, 6839– 6847 (1994).
    Article CAS Google Scholar
  16. Hooft Van Huijsduijnen, R. et al. Co-evolution from yeast to mouse: cDNA cloning of the two NF-Y (CP-1/CBF) subunits. EMBO J. 9, 3119–3127 (1990).
    Article CAS Google Scholar
  17. Hasegawa, S.L. & Boss, J.M. Two B cell factors bind the HLA-DRA X box region and recognize different subsets of HLA class II promoters. Nucleic Acids Res. 19, 6269–6276 (1991).
    Article CAS Google Scholar
  18. Louis-Plence, P., Moreno, C.S. & Boss, J.M. Formation of a regulatory factor X/X2 box-binding protein/nuclear factor-Y multiprotein complex on the conserved regulatory regions of HLA class II genes. J. Immunol. 159, 3899–3909 (1997).
    CAS PubMed Google Scholar
  19. Emery, P., Durand, B., Mach, B. & Reith, W. RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom. Nucleic Acids Res. 24, 803– 807 (1996).
    Article CAS Google Scholar
  20. Gygi, S.G., Han, D.K.M., Gingras, A.-C., Sonenberg, N. & Aebersold, R. Protein analysis by mass spectrometry and sequence database searching: tools for cancer research in the post genomic era. Electrophoresis, in press.
  21. Moreno, C.S., Rogers, E.M., Brown, J.A. & Boss, J.M. Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex. J. Immunol. 158, 5841–5848 (1997).
    CAS PubMed Google Scholar
  22. LaMarco, K., Thompson, C.C., Byers, B.P., Walton, E.M. & McKnight, S.L. Identification of Ets- and notch-related subunits in GA binding protein. Science 253, 789–792 (1991).
    Article CAS Google Scholar
  23. Watanabe, H. et al. cDNA cloning of transcription factor E4TF1 subunits with Ets and notch motifs. Mol. Cell. Biol. 13, 1385–1391 (1993).
    Article CAS Google Scholar
  24. Batchelor, A.H., Piper, D.E., de la Brousse, F.C., McKnight, S.L. & Wolberger, C. The structure of GABPα/β: an ETS domain- ankyrin repeat heterodimer bound to DNA. Science 279, 1037–1041 (1998).
    Article CAS Google Scholar
  25. Griscelli, C., Lisowska-Grospierre, B. & Mach, B. Combined immunodeficiency with defective expression in MHC class II genes. in Immunodeficiencies (eds Rosen, F.S. & Seligman, M.) 141–154 (Harwood Academic Publishers, Chur, Switzerland, 1993).
  26. Reith, W., Steimle, V., Lisowska-Grospierre, B., Fischer, A. & Mach, B. Molecular basis of major histocompatibility class II deficiency. in Primary Immunodeficiency Diseases, A Molecular and Genetic Approach (eds Ochs, H., Puck, J. & Smith, E.) (Oxford University Press, New York, 1998).
    Google Scholar
  27. Latchman, D.S. Transcription-factor mutations and disease. N. Engl. J. Med. 334, 28–33 (1996).
    Article CAS Google Scholar
  28. Shapiro, D.J., Sharp, P.A., Wahli, W.W. & Keller, M.J. A high efficieny HELA cell nuclear transcription extract. DNA 7, 47–55 (1988).
    Article CAS Google Scholar
  29. Eng, J.K., McCormack, A.L. & Yates, J.R. An approach to correlate tandem mass spectral data of peptides with amino acid sequences in a protein database. J. Am. Soc. Mass Spectrom. 5, 976–989 (1994).
    Article CAS Google Scholar
  30. Reith, W. et al. MHC class II regulatory factor RFX has a novel DNA-binding domain and a functionally independent dimerization domain. Genes Dev. 4, 1528–1540 (1990).
    Article CAS Google Scholar

Download references