Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)

Cell - Tập 75 - Trang 135-146 - 1993
Viktor Steimle1, Luc A. Otten1, Madeleine Zufferey1, Bernard Mach1
1Jeantet Laboratory of Molecular Genetics Department of Genetics and Microbiology University of Geneva Medical School CH-1211 Geneva 4 Switzerland

Tài liệu tham khảo

Accolla, 1983, Human B cell variants immunoselected against a single la antigen subset have lost expression in several la antigen subsets, J. exp. Med., 157, 1053, 10.1084/jem.157.3.1053 Accolla, 1986, alr-1, a newly found locus on mouse chromosome 16 encoding a trans-acting activator factor for MHC class II gene expression, J. Exp. Med., 164, 369, 10.1084/jem.164.1.369 Accolla, 1991, Cell lineage-specific and developmental stage-specific controls of MHC class-II-antigen expression, Int. J. Cancer, 6, 20, 10.1002/ijc.2910470707 Altschul, 1990, Basic local alignment search tool, J. Mol. Biol., 215, 403, 10.1016/S0022-2836(05)80360-2 Andrews, 1987, Induction of class-I major histocompatibility complex antigens in human teratocarcinoma cells by interferon without induction of differentiation, growth-inhibition, or resistance to viral-infection, Cancer Res., 47, 740 Aruffo, 1987, Molecular cloning of a CD28 cDNA by a high-efficiency COS cell expression system, Proc. Natl. Acad. Sci. USA, 84, 8573, 10.1073/pnas.84.23.8573 Bairoch, 1992, Prosite: a dictionary of sites and patterns in proteins, Nucl. Acids Res., 20, 2013, 10.1093/nar/20.suppl.2013 Benacerraf, 1981, Role of MHC gene products in immune regulation, Science, 212, 1229, 10.1126/science.6165083 Benichou, 1991, 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, 10.1073/pnas.88.10.4285 Benoist, 1990, Regulation of major histocompatibility complex class II genes: X, Y and other letters of the alphabet, Annu. Rev. Immunol., 8, 681, 10.1146/annurev.iy.08.040190.003341 Bours, 1993, The oncoprotein Bcl-3 directly transactivates through κB motifs via association with DNA-binding p50B homodimers, Cell, 72, 729, 10.1016/0092-8674(93)90401-B Calman, 1987, Mutant human B cell lines deficient in class II major histocompatibility complex transcription, J. Immunol., 139, 2489, 10.4049/jimmunol.139.7.2489 Carrel, 1976, Establishment of a cell line (Co-115) from a human colon carcinoma transplanted into nude mice, Cancer Res., 36, 3978 Casper, 1990, Successful treatment of an HLA-deficient SCID (“bare lymphocyte syndrome”) patient with an unrelated bone marrow transplant, J. Pediatr., 116, 262, 10.1016/S0022-3476(05)82885-9 Charron, 1979, Analysis of HLA-D region-associated molecules with monoclonal antibody, Proc. Natl. Acad. Sci. USA, 76, 6567, 10.1073/pnas.76.12.6567 Cogswell, 1991, Transcriptional regulation of the HLA-DRA gene, Crit. Rev. Immunol., 11, 87 de Preval, 1985, A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes, Nature, 318, 291, 10.1038/318291a0 Friedberg, 1985 Giordano, 1990, Optimization of the hygromycin B resistance-conferring gene as a dominant selectable marker in mammalian cells, Gene, 88, 285, 10.1016/0378-1119(90)90045-S Gladstone, 1978, Stable variants affecting B cell alloantigens in human lymphoid cells, Nature, 271, 459, 10.1038/271459a0 Glimcher, 1992, Sequences and factors: a guide to MHC class-II transcription, Annu. Rev. Immunol., 10, 13, 10.1146/annurev.iy.10.040192.000305 Gönczy, 1989, Inherited immunodeficiency with a defect in a major histocompatibility complex class II promoterbinding protein differs in the chromatin structure of the HLA-DRA gene, Mol. Cell. Biol., 9, 296, 10.1128/MCB.9.1.296 Griscelli, 1980, Impaired cell-to-cell interaction in partial combined immunodeficiency with variable expression of HLA antigens, 499 Griscelli, 1989, Combined immunodeficiency with defective expression in MHC class II genes, Immunodef. Rev., 1, 135 Gross, 1987, In vitro antigenic modulation of human neuroblastoma cells induced by IFN-γ, retinoic acid and dibutyryl cyclic AMP, Int. J. Cancer, 39, 521, 10.1002/ijc.2910390420 Guardiola, 1986, Stable integration of mouse DNA into la-negative human B-lymphoma cells causes reexpression of the human la-positive phenotype, Proc. Natl. Acad. Sci. USA, 83, 7415, 10.1073/pnas.83.19.7415 Hadam, 1984, Defective expression of HLA-D-region determinants in children with congenital agammaglobulinemia and malabsorption: a new syndrome, 645 Hasegawa, 1993, Protease treatment of nuclear extracts distinguishes between class II MHC X1 box DNA-binding proteins in wild-type and class II-deficient B cells, J. Immunol., 150, 1781, 10.4049/jimmunol.150.5.1781 Herrero Sanchez, 1992, 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, 10.1128/MCB.12.9.4076 Hoey, 1993, Molecular cloning and functional analysis of Drosophila TAF110 reveal properties expected of coactivators, Cell, 72, 247, 10.1016/0092-8674(93)90664-C Hoffman, 1980, Simple and rapid measurement of human T lymphocytes and their subclasses in peripheral blood, Proc. Natl. Acad. Sci. USA, 77, 4914, 10.1073/pnas.77.8.4914 Hume, 1989, Congenital immunodeficiencies associated with absence of HLA class II antigens on lymphocytes result from distinct mutations in trans-acting factors, Hum. Immunol., 26, 288, 10.1016/0198-8859(89)90007-4 Hume, 1989, Bare lymphocyte syndrome: altered HLA class II expression in B cell lines derived from two patients, Hum. Immunol., 25, 1, 10.1016/0198-8859(89)90065-7 Kao, 1990, Cloning of a transcriptionally active human Tata binding factor, Science, 248, 1646, 10.1126/science.2194289 Kara, 1991, In vivo footprinting of MHC class II genes: bare promoters in the bare lymphocyte syndrome, Science, 252, 709, 10.1126/science.1902592 Kara, 1993, Three in vivo promoter phenotypes in MHC class II deficient combined immunodeficiency, Immunogenetics, 37, 227, 10.1007/BF00191890 Koch, 1988, An enhancer defect in a mutant Burkitt lymphoma cell line, J. Exp. Med., 167, 1781, 10.1084/jem.167.6.1781 Kozak, 1989, The scanning model for translation: an update, J. Cell Biol., 108, 229, 10.1083/jcb.108.2.229 Krawczak, 1992, The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences, Hum. Genet., 90, 41, 10.1007/BF00210743 Lampson, 1980, 2 populations of la-like molecules on a human B-cell line, J. Immunol., 125, 293, 10.4049/jimmunol.125.1.293 Lisowska-Grospierre, 1985, A defect in the regulation of major histocompatibility complex class II gene expression in human HLA-DR negative lymphocytes from patients with combined immunodeficiency syndrome, J. Clin. Invest., 76, 381, 10.1172/JCI111974 Long, 1984, la-negative B-cell variants reveal a coordinate regulation in the transcription of the HLA class II gene family, Immunogenetics, 19, 349, 10.1007/BF00345408 Mach, 1993, Regulation and deregulation of HLA class II genes, 82 Mach, 1986, Polymorphism and regulation of HLA class-II genes of the major histocompatibility complex, Cold Spring Harbor Symp. Quant. Biol., 51, 67, 10.1101/SQB.1986.051.01.009 Mach, 1990, Diversity and regulation of MHC class II genes, 201 Maddon, 1985, The isolation and nucleotide sequence of a cDNA encoding the T cell surface protein T4: a new member of the immunoglobulin gene family, Cell, 42, 93, 10.1016/S0092-8674(85)80105-7 Mannhalter, 1991, Cell-mediated immune functions in a patient with MHC class II deficiency, Immunol. Invest., 20, 151, 10.3109/08820139109050783 Margolskee, 1988, Epstein-Barr virus shuttle vector for stable episomal replication of cDNA expression libraries in human cells, Mol. Cell. Biol., 8, 2837, 10.1128/MCB.8.7.2837 Matis, 1983, Magnitude of response of histocompatibility-restricted T-cell clones is a function of the product of the concentrations of antigen and la molecules, Proc. Natl. Acad. Sci. USA, 80, 6019, 10.1073/pnas.80.19.6019 Mermod, 1989, The prolinerich transcriptional activator of CTF/NF-I is distinct from the replication and DNA binding domain, Cell, 58, 741, 10.1016/0092-8674(89)90108-6 Miller, 1988, A simple salting out procedure for extracting DNA from human nucleated cells, Nucl. Acids Res., 16, 1215, 10.1093/nar/16.3.1215 Mitchell, 1989, Transcriptional regulation in mammalian cells by sequence-specific DNA-binding proteins, Science, 245, 371, 10.1126/science.2667136 Pascal, 1991, Different activation domains of Sp1 govern formation of multimers and mediate transcriptional synergism, Genes Dev., 5, 1646, 10.1101/gad.5.9.1646 Reith, 1988, 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, 10.1016/S0092-8674(88)90389-3 Reith, 1989, Cloning of the major histocompatibility complex class II promoter binding protein affected in a hereditary defect in class II gene regulation, Proc. Natl. Acad. Sci. USA, 86, 4200, 10.1073/pnas.86.11.4200 Reith, 1990, MHC class II regulatory factor RFX has a novel DNA-binding domain and a functionally independent dimerization domain, Genes Dev., 4, 1528, 10.1101/gad.4.9.1528 Sambrook, 1989 Saraste, 1990, The P-loop: a common motif in ATP-binding and GTP-binding proteins, Trends Biochem. Sci., 15, 430, 10.1016/0968-0004(90)90281-F Sloan, 1988, Conserved upstream sequences of human class-II major histocompatibility genes enhance expression of class-II genes in wild-type but not mutant B-cell lines, Proc. Natl. Acad. Sci. USA, 85, 8186, 10.1073/pnas.85.21.8186 Spickofsky, 1990, Procedures for constructing cDNA expression libraries in Epstein-Barr virus shuttle vectors capable of stable episomal replication, DNA Protein Eng. Tech., 2, 14 Stimac, 1991, Defective HLA DRA X box binding in the class II transactive transcription factor mutant 6.1.6 and in cell lines from class II immunodeficient patients, J. Immunol., 146, 4398, 10.4049/jimmunol.146.12.4398 Sugden, 1985, A vector that replicates as a plasmid and can be efficiently selected in B-Lymphoblasts transformed by Epstein-Barr virus, Mol. Cell. Biol., 5, 410, 10.1128/MCB.5.2.410 Ting, 1993, Regulation of MHC gene expression, Curr. Opin. Immunol., 5, 8, 10.1016/0952-7915(93)90074-3 Traglia, 1989, Structural and functional analyses of Saccharomyces cerevisiae wild-type and mutant Rna1 genes, Mol. Cell. Biol., 9, 2989, 10.1128/MCB.9.7.2989 Watson, 1983, Detection of a novel human class II HLA antigen, Nature, 304, 358, 10.1038/304358a0 Ziegler, 1986, Analysis by sequential immunoprecipitations of the specificities of the monoclonal antibodies Tü22, Tü34, Tü35, Tü36, Tü37, Tü39, Tü43, Tü58, and Yd1/63: Hik directed against human HLA class II antigens, Immunobiology, 171, 77, 10.1016/S0171-2985(86)80019-5