Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene

Immunogenetics

Volumn 49, Issue 4, 1999, Pages 338-345

  Peijnenburg, Ad ^a   Van Eggermond, Marja C J A ^b   Van Berg, Rian Den ^a   Sanal, Özden ^a   Vossen, Jaak M J J ^b   Van Den Elsen, Peter J ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Bare lymphocyte syndrome; CIITA; Gene regulation; MHC class II deficiency; RFX5

Indexed keywords

MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; PHOSPHOPROTEIN;

ARTICLE; BARE LYMPHOCYTE SYNDROME; GENE DELETION; GENE MUTATION; GENETIC COMPLEMENTATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

DNA-BINDING PROTEINS; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; HISTOCOMPATIBILITY ANTIGENS CLASS II; HLA-DP ANTIGENS; HLA-DR ANTIGENS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MUTATION; RNA SPLICING; TRANSFECTION;

EID: 0033025722     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002510050501     Document Type: Article

References (30)

1. Boss JM (1997) Regulation of transcription of MHC class II genes. Curr Opin Immunol 9: 107-113
2. Chang C-H, Fontes JD, Peterlin M, Flavell RA. (1994) Class II transactivator (CIITA) is sufficient for the inducible expression of major histocompatibility complex class II genes. J Exp Med 180: 1367-1374
3. Chen C, Okayama H (1987) High-efficiency transformation of mammalian cells by plasmid DNA. Mol Cell Biol 7: 2745-2752
4. Durand B, Kobr M, Reith W, Mach B (1994) Functional complementation of MHC class II regulatory mutants by the purified X box binding protein RFX. Mol Cell Biol 14: 6839-6847
5. Durand B, Sperisen P, Emery P, Barra E, Zufferey M, Mach B, Reith W (1997) RFXAP, a novel subunit of the RFX DNA binding complex is mutated in class II deficiency. EMBO J 16: 1045-1055
6. Emery P, Durand B, Mach B, Reith W (1996) RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom. Nucleic Acids Res 24: 803-807
7. Germain RN (1994) MHC-dependent antigen processing and peptide presentation: providing ligands for T lymphocyte activation. Cell 76: 287-299
8. Glimcher LH, Kara CJ (1992) Sequences and factors: a guide to MHC class-II transcription. Annu Rev Immunol 10: 13-49
9. 2-microglobulin genes. Immunity 9: 531-541
10. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 50: 9041-9054
11. Lee Y-J, Benveniste NE (1996) Stall a expression is involved in IFN-y induction of the class II transactivator and class II MHC genes. J Immunol 157: 1559-1568
12. Lisowska-Grospierre B, Fondaneche M-C, Rolls M-P, Griscelli C, Fischer A (1994) Two complementation groups account for most cases of inherited MHC class II deficiency. Hum Mol Genet 3: 953-958
13. Mach B, Steimle V, Martinez-Soria E, Reith W (1996) Regulation of MHC class II genes: lessons from a disease. Annu Rev Immunol 14: 301-331
14. Maurer DH, Hanke JH, Mickelson E, Rich RR, Pollack MS (1987) Differential presentation of HLA-DR, DQ, and DP restriction elements by interferon-γ-treated dermal fibroblasts. J Immunol 139: 715-723
15. Meraz MA, White JM, Sheehan KC, Bach EA, Rodig SJ, Dighe AS, Dighe DH, Kaplan DH, Riley JK, Greenlund AC, Campbell D, Carver-Moore K, Dubois RN, Clark R, Aguet M, Schreiber RD (1996) Targeted disruption of the STAT1 gene in mice reveals unexpected physiologic specificity in the in the JAK-STAT signaling pathway. Cell 84: 431-442
16. Moreno CS, Rogers EM, Brown JA, Boss JM (1997) Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex. J Immunol 158: 5841-5848
17. Muhlethaler-Mottet A, Di Berardino W, Otten LA, Mach B (1998) Activation of the MHC class II transactivator CIITA by interferon-γ requires cooperative interaction between stall and USF-1. Immunity 8: 157-166
18. Peijnenburg A, Godthelp B, Van Boxel-Dezaire A, Van den Elsen PJ (1995) Definition of a novel complementation group in MHC class II deficiency. Immunogenetics 41: 287-294
19. Peijnenburg A, Gobin SJP, Van Eggermond MCJA, Godthelp BC, Van Graafeiland N, Van den Elsen PJ (1997) Inlroduclion of exogenous class II Irans-activator in MHC class II-deficienl ABI fibroblasls resulls in incomplete rescue of MHC class II anligen expression. J Immunol 159: 2720-2727
20. Piskurich JF, Wang Y, Linhoff MW, While LC, Ting JP-Y (1998) Identification of distinct regions of 5′ flanking DNA that mediale constitutive, IFN-γ, STAT1, and TGF-β-regulaled expression of Ihe class II transactivator gene. J Immunol 160: 233-240
21. Scholl T, Mahanta SK, Strominger JL (1997) Specific complex formalion between the type II bare lymphocyte syndrome-associated transactivator CIITA and RFX5. Proc Natl Acad Sci USA 94: 6330-6334
22. Shapiro MB, Senapathy P (1987) RNA splice junctions of differenl classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15: 7155-7174
23. Steimle V, Otten LA, Zufferey M, 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
24. Steimle V, Siegrist CA, Mottet A, Lisowska-Grospierre B, Mach B (1994) Regulation of MHC class II expression by interferon-γ mediated by the transactivator gene CIITA. Science 265: 106-109
25. Steimle V, Durand B, Barras E, Zufferey M, Hadam MR, Mach B, 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
26. Vandekerckhove BAE, Datema G, Koning F, Goulmy E, Persijn GG, Van Rood JJ, Claas FHJ, De Vries JE (1990) Analysis of the donor-specific cytotoxic T lymphocyte repertoire in a patient with a long term surviving allograft. J Immunol 144: 1288-1294
27. Van den Eisen PJ, Peijnenburg A, Van Eggermond MCJA, Gobin SJP (1998) Shared regulatory elements in the promoters of MHC class I and class II genes. Immunol. Today 19: 308-312
28. Verduyn W, Doxiadis IIN, Anholts J, Drabbels JJM, Naipal A, D'Amaro J, Persijn GG, Giphart MJ, Schreuder GMTh (1993) Biotinylated DRB sequence-specific oligonucleotides: comparison to serologic HLA-DR typing of organ donors in Eurotransplant. Hum Immunol 37: 59-67
29. Villard J, Lisowska-Grospierre B, Van den Eisen P, Fischer A, Reith W, Mach B (1997a) Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. N Engl J Med 337: 748-753
30. Villard J, Reith W, Barras E, Gos A, Morris MA, Antonarakis SA, Van den Eisen PJ, Mach B (1997b) Analysis of mutations and chromosomal localization of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. Hum Mutat 10: 430-435