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Volumn 3, Issue 11, 2002, Pages 1075-1081

Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; REGULATOR PROTEIN; REGULATORY FACTOR X5; UNCLASSIFIED DRUG;

EID: 0036852197     PISSN: 15292908     EISSN: None     Source Type: Journal    
DOI: 10.1038/ni840     Document Type: Article
Times cited : (26)

References (43)
  • 1
    • 0025257112 scopus 로고
    • Regulation of major histocompatibility complex class-II genes: X, Y and other letters of the alphabet
    • Benoist, C. & Mathis, D. Regulation of major histocompatibility complex class-II genes: X, Y and other letters of the alphabet. Annu. Rev. Immunol. 8, 681-715 (1990).
    • (1990) Annu. Rev. Immunol , vol.8 , pp. 681-715
    • Benoist, C.1    Mathis, D.2
  • 2
    • 0031050035 scopus 로고    scopus 로고
    • Regulation of transcription of MHC class II genes
    • Boss, J. M. Regulation of transcription of MHC class II genes. Curr. Opin. Immunol. 9, 107-113 (1997).
    • (1997) Curr. Opin. Immunol , vol.9 , pp. 107-113
    • Boss, J.M.1
  • 4
    • 0028313992 scopus 로고
    • Assembly, transport, and function of MHC class II molecules
    • Cresswell, P. Assembly, transport, and function of MHC class II molecules. Annu Rev. Immunol. 12, 259-293 (1994).
    • (1994) Annu. Rev. Immunol , vol.12 , pp. 259-293
    • Cresswell, P.1
  • 5
    • 0026734795 scopus 로고
    • Sequences and factors: A guide to MHC class-II transcription
    • Glimcher, L. H. & Kara, C. J. Sequences and factors: a guide to MHC class-II transcription. Annu. Rev. Immunol. 10, 13-49 (1992).
    • (1992) Annu. Rev. Immunol , vol.10 , pp. 13-49
    • Glimcher, L.H.1    Kara, C.J.2
  • 6
    • 0031055891 scopus 로고    scopus 로고
    • RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency
    • 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).
    • (1997) EMBO J , vol.16 , pp. 1045-1055
    • Durand, B.1
  • 7
    • 0004419978 scopus 로고    scopus 로고
    • A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients
    • Masternak, K. et al. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nature Genet 20, 273-277 (1998).
    • (1998) Nature Genet , vol.20 , pp. 273-277
    • Masternak, K.1
  • 8
    • 0033838113 scopus 로고    scopus 로고
    • Associations and interactions between bare lymphocyte syndrome factors
    • DeSandro, A. M., Nagarajan, U. M. & Boss, J. M. Associations and interactions between bare lymphocyte syndrome factors. Mol. Cell. Biol. 20, 6587-6599 (2000).
    • (2000) Mol. Cell. Biol , vol.20 , pp. 6587-6599
    • DeSandro, A.M.1    Nagarajan, U.M.2    Boss, J.M.3
  • 9
    • 0034086225 scopus 로고    scopus 로고
    • Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex
    • Nekrep, N., Jabrane-Ferrat, N. & Peterlin, B. M. Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex. Mol. Cell. Biol. 20, 4455-4461 (2000).
    • (2000) Mol. Cell. Biol , vol.20 , pp. 4455-4461
    • Nekrep, N.1    Jabrane-Ferrat, N.2    Peterlin, B.M.3
  • 10
    • 11944266638 scopus 로고
    • A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)
    • 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).
    • (1995) Genes Dev , vol.9 , pp. 1021-1032
    • Steimle, V.1
  • 11
    • 0029762163 scopus 로고    scopus 로고
    • Complex architecture of major histocompatibility complex class II promoters: Reiterated motifs and conserved protein-protein interactions
    • Jabrane-Ferrat, N., Fontes, J. D., Boss, J. M. & Peterlin, B. M. Complex architecture of major histocompatibility complex class II promoters: reiterated motifs and conserved protein-protein interactions. Mol. Cell. Biol. 16, 4683-4690 (1996).
    • (1996) Mol. Cell. Biol , vol.16 , pp. 4683-4690
    • Jabrane-Ferrat, N.1    Fontes, J.D.2    Boss, J.M.3    Peterlin, B.M.4
  • 12
    • 0027490172 scopus 로고
    • Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)
    • Steimle, V., Otten, L. A., Zufferey, M. & Mach, B. Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell 75, 135-146 (1993).
    • (1993) Cell , vol.75 , pp. 135-146
    • Steimle, V.1    Otten, L.A.2    Zufferey, M.3    Mach, B.4
  • 13
    • 0032719226 scopus 로고    scopus 로고
    • The class II transactivator CIITA is a transcriptional integrator
    • Fontes, J. D., Kanazawa, S., Nekrep, N. & Peterlin, B. M. The class II transactivator CIITA is a transcriptional integrator. Microbes Infect 1, 863-869 (1999).
    • (1999) Microbes. Infect , vol.1 , pp. 863-869
    • Fontes, J.D.1    Kanazawa, S.2    Nekrep, N.3    Peterlin, B.M.4
  • 14
    • 0033861006 scopus 로고    scopus 로고
    • Transcriptional scaffold: CIITA interacts with NF-Y, RFX, and CREB to cause stereospecific regulation of the class II major histocompatibility complex promoter
    • Zhu, X. S. et al. Transcriptional scaffold: CIITA interacts with NF-Y, RFX, and CREB to cause stereospecific regulation of the class II major histocompatibility complex promoter. Mol. Cell. Biol. 20, 6051-6061 (2000).
    • (2000) Mol. Cell. Biol , vol.20 , pp. 6051-6061
    • Zhu, X.S.1
  • 16
    • 0035064073 scopus 로고    scopus 로고
    • The bare lymphocyte syndrome and the regulation of MHC expression
    • Reith, W. & Mach, B. The bare lymphocyte syndrome and the regulation of MHC expression. Annu. Rev. Immunol. 19, 331-373 (2001).
    • (2001) Annu. Rev. Immunol , vol.19 , pp. 331-373
    • Reith, W.1    Mach, B.2
  • 18
    • 0028899133 scopus 로고
    • Molecular characterization of major histocompatibility complex class II gene expression and demonstration of antigen-specific T cell response indicate a new phenotype in class II-deficient patients
    • Hauber, I. et al. Molecular characterization of major histocompatibility complex class II gene expression and demonstration of antigen-specific T cell response indicate a new phenotype in class II-deficient patients. J. Exp. Med. 181, 1411-1423 (1995).
    • (1995) J. Exp. Med , vol.181 , pp. 1411-1423
    • Hauber, I.1
  • 19
    • 0030002887 scopus 로고    scopus 로고
    • Genetic evidence for a new type of major histocompatibility complex class II combined immunodeficiency characterized by a dyscoordinate regulation of HLA-D α and β chains
    • Douhan, J. III, Hauber, I., Eibl, M. M. & Glimcher, L. H. Genetic evidence for a new type of major histocompatibility complex class II combined immunodeficiency characterized by a dyscoordinate regulation of HLA-D α and β chains. J. Exp. Med. 183, 1063-1069 (1996).
    • (1996) J. Exp. Med , vol.183 , pp. 1063-1069
    • Douhan J. III1    Hauber, I.2    Eibl, M.M.3    Glimcher, L.H.4
  • 20
    • 0034663147 scopus 로고    scopus 로고
    • Highly efficient gene transfer into cord blood nonobese diabetic/severe combined immunodeficiency repopulating cells by oncoretroviral vector particles pseudotyped with the feline endogenous retrovirus (RD114) envelope protein
    • Kelly, P. F., Vandergriff, J., Nathwani, A., Nienhuis, A. W. & Vanin, E. F. Highly efficient gene transfer into cord blood nonobese diabetic/severe combined immunodeficiency repopulating cells by oncoretroviral vector particles pseudotyped with the feline endogenous retrovirus (RD114) envelope protein. Blood 96, 1206-1214 (2000).
    • (2000) Blood , vol.96 , pp. 1206-1214
    • Kelly, P.F.1    Vandergriff, J.2    Nathwani, A.3    Nienhuis, A.W.4    Vanin, E.F.5
  • 21
    • 0029997190 scopus 로고    scopus 로고
    • RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom
    • 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).
    • (1996) Nucleic Acids Res , vol.24 , pp. 803-807
    • Emery, P.1    Durand, B.2    Mach, B.3    Reith, W.4
  • 22
    • 0034708205 scopus 로고    scopus 로고
    • Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding
    • Gajiwala, K. S. et al. Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding. Nature 403, 916-921 (2000).
    • (2000) Nature , vol.403 , pp. 916-921
    • Gajiwala, K.S.1
  • 23
    • 0030053370 scopus 로고    scopus 로고
    • ProMod and Swiss-Model: Internet-based tools for automated comparative protein modelling
    • Peitsch, M. C. ProMod and Swiss-Model: Internet-based tools for automated comparative protein modelling. Biochem. Soc. Trans. 24, 274-279 (1996).
    • (1996) Biochem. Soc. Trans , vol.24 , pp. 274-279
    • Peitsch, M.C.1
  • 24
    • 0031577261 scopus 로고    scopus 로고
    • Assembly of functional regulatory complexes on MHC class II promoters in vivo
    • Fontes, J. D., Jabrane-Ferrat, N. & Peterlin, B. M. Assembly of functional regulatory complexes on MHC class II promoters in vivo. J. Mol. Biol. 270, 336-345 (1997).
    • (1997) J. Mol. Biol , vol.270 , pp. 336-345
    • Fontes, J.D.1    Jabrane-Ferrat, N.2    Peterlin, B.M.3
  • 25
    • 0036318460 scopus 로고    scopus 로고
    • MHCII transcriptional platform: Assembly of NFY and RFX on DNA requires RFX5 dimers
    • Jabrane-Ferrat, N., Nekrep, N., Tosi, G., Esserman, L. J. & Peterlin, B. M. MHCII transcriptional platform: Assembly of NFY and RFX on DNA requires RFX5 dimers. Mol. Cell. Biol. 15, 5616-5625 (2002).
    • (2002) Mol. Cell. Biol , vol.15 , pp. 5616-5625
    • Jabrane-Ferrat, N.1    Nekrep, N.2    Tosi, G.3    Esserman, L.J.4    Peterlin, B.M.5
  • 26
    • 0034096381 scopus 로고    scopus 로고
    • A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y
    • Villard, J. et al. A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y. Mol. Cell. Biol. 20, 3364-3376 (2000).
    • (2000) Mol. Cell. Biol , vol.20 , pp. 3364-3376
    • Villard, J.1
  • 27
    • 0034909688 scopus 로고    scopus 로고
    • Expression of the three human major histocompatibility complex class II isotypes exhibits a differential dependence on the transcription factor RFXAP
    • Peretti, M., Villard, J., Barras, E., Zufferey, M. & Reith, W. Expression of the three human major histocompatibility complex class II isotypes exhibits a differential dependence on the transcription factor RFXAP. Mol. Cell. Biol. 21, 5699-5709 (2001).
    • (2001) Mol. Cell. Biol , vol.21 , pp. 5699-5709
    • Peretti, M.1    Villard, J.2    Barras, E.3    Zufferey, M.4    Reith, W.5
  • 28
    • 0025055661 scopus 로고
    • Two DNA-binding proteins discriminate between the promoters of different members of the major histocompatibility complex class II multigene family
    • Kobr, M., Reith, W., Herrero-Sanchez, C. & Mach, B. Two DNA-binding proteins discriminate between the promoters of different members of the major histocompatibility complex class II multigene family. Mol. Cell. Biol. 10, 965-971 (1990).
    • (1990) Mol. Cell. Biol , vol.10 , pp. 965-971
    • Kobr, M.1    Reith, W.2    Herrero-Sanchez, C.3    Mach, B.4
  • 29
    • 0028183403 scopus 로고
    • MHC class II-deficient combined immunodeficiency: A disease of gene regulation
    • Mach, B., Steimle, V. & Reith, W. MHC class II-deficient combined immunodeficiency: a disease of gene regulation. Immunol. Rev. 138, 207-221 (1994).
    • (1994) Immunol. Rev , vol.138 , pp. 207-221
    • Mach, B.1    Steimle, V.2    Reith, W.3
  • 30
    • 0027998318 scopus 로고
    • Cooperative binding between factors RFX and X2bp to the X and X2 boxes of MHC class II promoters
    • 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).
    • (1994) J. Biol. Chem , vol.269 , pp. 20020-20025
    • Reith, W.1
  • 31
    • 0032006980 scopus 로고    scopus 로고
    • Residual MHC class II expression on mature dendritic cells and activated B cells in RFX5-deficient mice
    • Clausen, B. E. et al. Residual MHC class II expression on mature dendritic cells and activated B cells in RFX5-deficient mice. Immunity 8, 143-155 (1998).
    • (1998) Immunity , vol.8 , pp. 143-155
    • Clausen, B.E.1
  • 32
    • 0034724857 scopus 로고    scopus 로고
    • Gene therapy of human severe combined immunodeficiency (SCID)-XI disease
    • Cavazzana-Calvo, M. et al. Gene therapy of human severe combined immunodeficiency (SCID)-XI disease. Science 288, 669-672 (2000).
    • (2000) Science , vol.288 , pp. 669-672
    • Cavazzana-Calvo, M.1
  • 33
    • 0033215443 scopus 로고    scopus 로고
    • Looping versus linking: Toward a model for long-distance gene activation
    • Bulger, M. & Groudine, M. Looping versus linking: toward a model for long-distance gene activation. Genes Dev. 13, 2465-2477 (1999).
    • (1999) Genes Dev , vol.13 , pp. 2465-2477
    • Bulger, M.1    Groudine, M.2
  • 34
    • 0037154982 scopus 로고    scopus 로고
    • A unified theory of gene expression
    • Orphanides, G. & Reinberg, D. A unified theory of gene expression. Cell 108, 439-451 (2002).
    • (2002) Cell , vol.108 , pp. 439-451
    • Orphanides, G.1    Reinberg, D.2
  • 35
    • 0030924770 scopus 로고    scopus 로고
    • Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5
    • Scholl, T., Mahanta, S. K. & Strominger, J. L. Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5. Proc. Natl. Acad. Sci. USA 94, 6330-6334 (1997).
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 6330-6334
    • Scholl, T.1    Mahanta, S.K.2    Strominger, J.L.3
  • 36
    • 0032937881 scopus 로고    scopus 로고
    • Interactions between the class II transactivator and CREB binding protein increase transcription of major histocompatibility complex class II genes
    • Fontes, J. D., Kanazawa, S., Jean, D. & Peterlin, B. M. Interactions between the class II transactivator and CREB binding protein increase transcription of major histocompatibility complex class II genes. Mol. Cell. Biol. 19, 941-947 (1999).
    • (1999) Mol. Cell. Biol , vol.19 , pp. 941-947
    • Fontes, J.D.1    Kanazawa, S.2    Jean, D.3    Peterlin, B.M.4
  • 37
    • 0031773473 scopus 로고    scopus 로고
    • Involvement of CREB binding protein in expression of major histocompatibility complex class II genes via interaction with the class II transactivator
    • Kretsovali, A. et al. Involvement of CREB binding protein in expression of major histocompatibility complex class II genes via interaction with the class II transactivator. Mol. Cell. Biol. 18, 6777-6783 (1998).
    • (1998) Mol. Cell. Biol , vol.18 , pp. 6777-6783
    • Kretsovali, A.1
  • 38
    • 0033767150 scopus 로고    scopus 로고
    • Acetylation by PCAF enhances CIITA nuclear accumulation and transactivation of major histocompatibility complex class II genes
    • Spilianakis, C., Papamatheakis, J. & Kretsovali, A. Acetylation by PCAF enhances CIITA nuclear accumulation and transactivation of major histocompatibility complex class II genes. Mol. Cell. Biol. 20, 8489-8498 (2000).
    • (2000) Mol. Cell. Biol , vol.20 , pp. 8489-8498
    • Spilianakis, C.1    Papamatheakis, J.2    Kretsovali, A.3
  • 39
    • 0035106263 scopus 로고    scopus 로고
    • Transcriptional coactivator, CIITA, is an acetyltransferase that bypasses a promoter requirement for TAF(II)250
    • Raval, A. et al. Transcriptional coactivator, CIITA, is an acetyltransferase that bypasses a promoter requirement for TAF(II)250. Mol. Cell 7, 105-115 (2001).
    • (2001) Mol. Cell , vol.7 , pp. 105-115
    • Raval, A.1
  • 40
    • 0037086608 scopus 로고    scopus 로고
    • Promoter-specific functions of CIITA and the MHC class II enhanceosome in transcriptional activation
    • Masternak, K. & Reith, W. Promoter-specific functions of CIITA and the MHC class II enhanceosome in transcriptional activation. EMBO J. 21, 1379-1388 (2002).
    • (2002) EMBO J , vol.21 , pp. 1379-1388
    • Masternak, K.1    Reith, W.2
  • 41
    • 0033989611 scopus 로고    scopus 로고
    • HIV-1 Tat mutants in the cysteine-rich region downregulate HLA class II expression in T lymphocytic and macrophage cell lines
    • Tosi, G. et al, HIV-1 Tat mutants in the cysteine-rich region downregulate HLA class II expression in T lymphocytic and macrophage cell lines. Eur. J. Immunol. 30, 19-28 (2000).
    • (2000) Eur. J. Immunol , vol.30 , pp. 19-28
    • Tosi, G.1
  • 42
    • 0034932943 scopus 로고    scopus 로고
    • Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome
    • Nekrep, N., Geyer, M. Jabrane-Ferrat, N. & Peterlin, B. M. Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome. Mol. Cell. Biol. 21, 5566-5576 (2001).
    • (2001) Mol. Cell. Biol , vol.21 , pp. 5566-5576
    • Nekrep, N.1    Geyer, M.2    Jabrane-Ferrat, N.3    Peterlin, B.M.4
  • 43
    • 0026319199 scopus 로고
    • Protein folding and association: Insights from the interfacial and thermodynamic properties of hydrocarbons
    • Nicholls, A., Sharp, K. A. & Honig, B. Protein folding and association: insights from the interfacial and thermodynamic properties of hydrocarbons. Proteins 11, 281-296 (1991).
    • (1991) Proteins , vol.11 , pp. 281-296
    • Nicholls, A.1    Sharp, K.A.2    Honig, B.3


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