RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency

Immunity

Volumn 10, Issue 2, 1999, Pages 153-162

  Nagarajan, Uma M ^a   Louis Plence, Pascale ^a,b   DeSandro, Angela ^a   Nilsen, Roger ^a   Bushey, Alyssa ^a   Boss, Jeremy M ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HÔPITAL SAINT ELOI   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; TRANSCRIPTION FACTOR;

ARTICLE; BARE LYMPHOCYTE SYNDROME; CELLULAR IMMUNITY; GENE EXPRESSION SYSTEM; HUMAN; HUMAN CELL; HUMORAL IMMUNITY; IMMUNE DEFICIENCY; IMMUNE RESPONSE; MAJOR HISTOCOMPATIBILITY COMPLEX; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN PROTEIN INTERACTION; PROTEIN PURIFICATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY;

EID: 0033083748     PISSN: 10747613     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1074-7613(00)80016-3     Document Type: Article

References (52)

1. Ausubel, F.M., Brent, R., Kingston, R.E., Moore, D.D., Seidman, J.G., Smith, J.A., and Struhl, K. (1987). Current Protocols in Molecular Biology (Boston: Wiley, Inc.).
2. Baldwin, A.S. (1996). The NF-κB and IκB proteins: New discoveries and insights. Annu. Rev. Immunol. 14, 649-681.
3. Benichou, B., and Strominger, J.L. (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, 4285-4288.
4. Bork, P. (1993). Hundreds of ankyrin-like repeates in functionally diverse proteins: Mobile modules that cross phyla horizontally? Proteins: Struture, Function, and Genetics 17, 363-374.
5. Boss, J.M. (1997). Regulation of transcription of MHC class II genes. Curr. Opin. Immunol. 9, 107-113.
6. Chang, C.-H., Fontes, J.D., Peterlin, B.M., and Flavell, R.A. (1994). Class II transactivator (CIITA) is sufficient for the inducible expression of major histocompatibility complex class II genes. J. Exp. Med. 180, 1367-1374.
7. Chin, K.-C., Mao, C., Skinner, C., Riley, J.L., Wright, K.L., Moreno, C.S., Stark, G.R., Boss, J.M., and Ting, J.P.-Y. (1994). Molecular analysis of G1B and G3A IFN-γ mutants reveals that defects in CIITA or RFX result in defective class II MHC and li gene induction. Immunity 1, 687-697.
8. de Preval, C., Lisowska-Grospierre, B., Loche, M., Griscelli, C., and Mach, B. (1985). A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes. Nature 318, 291-293.
9. Durand, B., Sperisen, P., Emery, P., Barras, E., Zufferey, M., Mach, B., and Reith, W. (1997). RFXAP, a novel subunit of the RFX DNA binding complex, is mutated in MHC class II deficiency. EMBO J. 16, 1045-1055.
10. Elhasid, R., and Etzioni, A. (1996). Major histocompatibility complex class II deficiency: A clinical review. Blood. Rev. 10, 242-248.
11. Epstein, M.A., Achong, B.G., Barr, Y.M., Zajac, B., Henle, G., and Henle, W. (1966). Morphological and virological investigations on cultured Burkitt tumor lymphoblasts (strain Raji). J. Natl. Cancer. Inst. 37, 547-559.
12. Ewaskow, S.P., Sidorova, J.M., Hendle, J., Emery, J.C., Lycan, D.E., Zhang, K.Y., and Breeden, L.L. (1998). Mutation and modeling analysis of Saccharomyces cerevisiae Swi6 ankyrin repeats. Biochemistry 37, 4437-4450.
13. Glimcher, L.H., and Kara, C.J. (1992). Sequences and factors: A guide to MHC class II transcription. In Annual Reviews of Immunology, W.E. Paul, C. Garrison Fathman, and H. Metzger, eds. (Palo Alto: Annual Reviews Inc.), pp. 13-50.
14. Gobin, S.J.P., Peijnenburg, A., Keijsers, V., and van den Elsen, P.J. (1997). Site a is crucial for two routes of IFNγ-induced MHC class I transactivation: The ISRE-mediate route and a novel pathway involving CIITA. Immunity 6, 601-611.
15. 2-microglobulin genes. Immunity 9, 531-541.
16. Gordon, H.M., Kucera, G., Salvo, R., and Boss, J.M. (1992). Tumor necrosis factor induces genes involved in inflammation, cellular and tissue repair and metabolism in murine fibroblasts. J. Immunol. 148, 4021-4027.
17. Griscelli, C., Lisowska-Grospierre, B., and Mach, B. (1989). Combined immunodeficiency with defective expression in MHC class II genes. Immunodefic. Rev. 1, 135-153.
18. Hasegawa, S.L., and Boss, J.M. (1991). Two distinct B cell factors bind the HLA-DRA X box region and recognize different subsets of MHC class II promoters. Nucleic Acids Res. 19, 6269-6276.
19. Hasegawa, S.L., Riley, J.L., Sloan, J.H., and Boss, J.M. (1993). Protease treatment of nuclear extracts distinguishes between class II major histocompatibility complex X1 box DNA-binding proteins in wild type and class II deficient B cells. J. Immunol. 150, 1781-1793.
20. Herrero-Sanchez, C., Reith, W., Silacci, P., and Mach, B. (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, 4076-4083.
21. Kara, C.J., and Glimcher, L.H. (1991). In vivo footprinting of MHC class II genes: Bare promoters in the bare lymphocyte syndrome. Science 252, 709-712.
22. Lisowska-Grospierre, B., Fondaneche, M.-C., Rols, M.-P., Griscelli, C., and Fischer, A. (1994). Two complementation groups account for most cases of inherited MHC class II deficiency. Hum. Mol. Gen. 3, 953-958.
23. Louis-Plence, P., Moreno, C.S., and Boss, J.M. (1997). 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.
24. Ma, J., and Ptashne, M. (1987). A new class of yeast transcriptional activators. Cell 51, 113-119.
25. Mach, B., Steimle, V., and Reith, W. (1994). MHC class II-deficient combined immunodeficiency: A disease of gene regulation. ImmuNol. Rev. 138, 207-221.
26. Mach, B., Steimle, V., Martinez-Soria, E., and Reith, W. (1996). Regulation of MHC class II genes: Lessons from a disease. Annu. Rev. Immunol. 14, 301-331.
27. Martin, B. K., Chin, K.-C., Olsen, J.C., Skinner, C.A., Dey, A., Ozato, K., and Ting, J.P.-Y. (1997). Induction of MHC class I expression by the MHC class II transactivator CIITA. Immunity 6, 581-600.
28. Masternak, K., Barras, E., Zufferey, M., Conrad, B., Corthals, G., Aebersold, R., Sanchez, J.-C., Hochstrasser, D.F., Mach, B., and Reith, W. (1998). A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat. Genet. 20, 273-277.
29. Mermod, N., O'Neill, E.A., Kelly, T.J., and Tjian, R. (1989). The proline- rich transcriptional activator of CTF/NF-I is distinct from the replication and DNA binding domain. Cell 58, 741-753.
30. Mitchell, P.J., and Tjian, R. (1989). Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins. Science 245, 371-378.
31. Moreno, C.S., Emery, P., West, J.E., Durand, B., Reith, W., Mach, B., and Boss, J.M. (1995). Purified X2BP cooperatively binds the class II MHC X box region in the presence of purified RFX, the X box factor deficient in the bare lymphocyte syndrome. J. Immunol. 155, 4313-4321.
32. Moreno, C.S., Rogers, E.M., Brown, J.A., and Boss, J.M. (1997). RFX, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex. J. Immunol. 158, 5841-5848.
33. Ping, D., Jones, P.L., and Boss, J.M. (1996). TNF regulates the in vivo occupancy of both distal and proximal regulatory regions of the murine monocyte chemoattractant protein-1 (MCP-1/JE) gene. Immunity 4, 455-469.
34. Reith, W., Satola, S., Herreo-Sanchez, C., Amaldi, I., Lisowska- Grospierre, B., Griscelli, C., Hadam, M.R., and Mach, B. (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, 897-906.
35. Reith, W., Kobr, M., Emery, P., Durand, B., Siegrist, C.-A., and Mach, B. (1994a). Cooperative binding between factors RFX and X2BP to the X and X2 boxes of MHC class II promoters. J. Biol. Chem. 269, 20020-20025.
36. Reith, W., Siegrist, C.A., Durand, B., Barras, E., and Mach, B. (1994b). 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.
37. Riley, J.L., and Boss, J.M. (1993). Class II MHC transcriptional mutants are defective in higher order complex formation. J. Immunol. 151, 6942-6953.
38. Riley, J.L., Westerheide, S.D., Price, J.A., Brown, J.A., and Boss, J.M. (1995). Activation of class II MHC genes requires both the X box region and the class II transactivator (CIITA). Immunity 2, 533-543.
39. Rogers, S., Wells, R., and Rechsteiner, M. (1986). Amino acid sequences common to rapidly degraded proteins: The PEST hypothesis. Science 234, 364-368.
40. Sadowski, I., Ma, J., Triezenberg, S., and Ptashne, M. (1988). GAL4- VP16 is an unusually potent transcriptional activator. Nature 335, 563-564.
41. Sambrook, J., Fritsch, E.F., and Maniatis, T. (1989). Molecular Cloning, A Laboratory Manual (Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press).
42. Scholl, T., Mahanta, S.K., and Strominger, J.L. (1997). Specific complex formation between the type II bare lymphocyte syndrome- Associated transactivators CIITA and RFX5. Proc. Natl. Acad. Sci. USA 94, 6330-6334.
43. Seidl, C., Saraiya, C., Osterweil, Z., Fu, Y.P., and Lee, J.S. (1992). Genetic complexity of regulatory mutants defective for HLA class II expression. J. Immunol. 148, 1576-1584.
44. Sloan, J.H., and Boss, J.M. (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, 8186-8190.
45. Sloan, J.H., Hasegawa, S.L., and Boss, J.M. (1992). Single base pair substitutions within the HLA-DRA gene promoter separate the functions of the X1 and X2 boxes. J. Immunol. 148, 2591-2599.
46. Steimle, V., Otten, L.A., Zufferey, M., and Mach, B. (1993). Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell 75, 135-146.
47. Steimle, V., Siegrist, C.-A., Mottet, A., Lisowska-Grospierre, B., and Mach, B. (1994). Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA. Science 265, 106-108.
48. Steimle, V., Durand, B., Emmanuele, B., Zufferey, M., Hadam, M.R., Mach, B., and Reith, W. (1995). A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). Genes Dev. 9, 1021-1032.
49. Stimac, E., Urieli-Shoval, S., Kempin, S., and Pious, D. (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, 4398-4405.
50. Strathdee, C.A., Gavish, H., Shannon, W.R., and Buchwald, M. (1992). Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356, 763-767.
51. Westerheide, S.D., Louis-Plence, P., Ping, D., He, X.-F., and Boss, J.M. (1997). HLA-DMA and HLA-DMB gene expression functions through the conserved S-X-Y region. J. Immunol. 158, 4812-4821.
52. Zhou, H., and Glimcher, L.H. (1995). Human MHC class II gene transcription directed by the carboxyl terminus of CIITA, one of the defective genes in type II MHC combined immune deficiency. Immunity 2, 545-553.