Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A

Human Genetics

Volumn 99, Issue 4, 1997, Pages 541-546

  Bontron, Séverine ^a   Steimle, Viktor ^a,c   Ucla, Catherine ^a   Eibl, Martha M ^b   Mach, Bernard ^a  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b UNIVERSITY OF VIENNA   (Austria)

^c MAX PLANCK INSTITUTE OF IMMUNOBIOLOGY AND EPIGENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; TRANS ACTING FACTOR;

ARTICLE; CONGENITAL DISORDER; CONTROLLED STUDY; DNA TRANSFECTION; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC COMPLEMENTATION; HISTOCOMPATIBILITY GENE; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; PRIORITY JOURNAL;

ALLELES; ALTERNATIVE SPLICING; CELL LINE; CHROMOSOME MAPPING; DNA, COMPLEMENTARY; GENE DELETION; GENES, MHC CLASS II; GENETIC COMPLEMENTATION TEST; HETEROZYGOTE; HUMANS; MUTATION; NUCLEAR PROTEINS; RNA, MESSENGER; SEVERE COMBINED IMMUNODEFICIENCY; TRANS-ACTIVATORS; TUMOR CELLS, CULTURED;

EID: 0030987044     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050403     Document Type: Article

References (25)

1. Benichou B, Strominger JL (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
2. Brown JA, He XF, Westerheide SD, Boss JM (1996) Characterization of the expressed CIITA allele in the class II MHC transcriptional mutant RJ2.2.5. Immunogenetics 43:88-91
3. Chang CH, Flavell RA (1995) Class II transactivator regulates the expression of multiple genes involved in antigen presentation. J Exp Med 181:765-767
4. Douhan J 3rd, Hauber I, Eibl MM, Glimcher LH (1996) Genetic evidence for a new type of major histocompatibility complex class II combined immunodeficiency characterized by a dyscoordinate regulation of HLA-D alpha and beta chains. J Exp Med 183:1063-1069
5. Hume CR, Lee JS (1989) Congenital immunodeficiencies associated with absence of HLA class II antigens on lymphocytes result from distinct mutations in trans-acting factors. Hum Immunol 26:288-309
6. Kern I, Steimle V, Siegrist C-A, Mach B (1995) The two novel MHC class II transactivators RFX5 and CIITA both control expression of HLA-DM genes. Int Immunol 7:1295-1300
7. Kobe B, Deisenhofer J (1995a) A structural basis of the interactions between leucine-rich repeats and protein ligands. Nature 374:183-186
8. Kobe B, Deisenhofer J (1995b) Proteins with leucine-rich repeats. Curr Opin Struct Biol 5:409-416
9. 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 90:41-54
10. Lisowska-Grospierre B, Fondaneche MC, Rols MP, Griscelli C, Fischer A (1994) Two complementation groups account for most cases of inherited MHC class II deficiency. Hum Mol Genet 3:953-958
11. 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
12. Mannhalter JW, Wolf HM, Gadner H, Potschka M, Eibl MM (1991) Cell-mediated immune functions in a patient with MHC class-II deficiency. Immunol Invest 20:151-167
13. Peijnenburg A, Godthelp B, Boxel-Dezaire A van, Elsen PJ van den (1995) Definition of a novel complementation group in MHC class II deficiency. Immunogenetics 41:287-294
14. Preval C de, Lisowska-Grospierre B, Loche M, Griscelli C, 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
15. Reith W, Steimle V, Mach B (1995) Molecular defects in the bare lymphocyte syndrome and the regulation of MHC class II genes. Immunol Today 16:539-546
16. Riley JL, Westerheide SD, Price JA, Brown JA, Boss JM (1995) Activation of class II MHC genes requires both the X box and the class II transactivator (CIITA). Immunity 2:533-543
17. Seidl C, Saraiya C, Osterweil Z, Fu YP, Lee JS (1992) Genetic complexity of regulatory mutants defective for HLA class-II gene-expression. J Immunol 148:1576-1584
18. Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eucaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174
19. Silacci P, Mottet A, Steimle V, Reith W, Mach B (1994) Developmental extinction of major histocompatibility complex class II gene expression in plasmocytes is mediated by silencing of the transactivator gene CIITA. J Exp Med 180:1329-1336
20. Steimle V, Mach B (1995) Complementation cloning of mammalian transcriptional regulators: the example of MHC class II gene regulators. Curr Opin Genet Dev 5:646-651
21. 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
22. Steimle V, Siegrist C, Mottet A, Lisowska-Grospierre B, Mach B (1994) Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA. Science 265:106-109
23. 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
24. Tiercy JM, Grundschober C, Jeannet M, Mach B (1993) A comprehensive HLA-DRB, -DQB and -DPB oligotyping procedure by hybridization with sequence-specific oligonucleotide probes. In: Bidwell J, Hui K (eds) Handbook for HLA tissue typing laboratories. CRC Press, Boca Raton, pp 117-147
25. Zhou H, Glimcher LH (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