Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II

MHC class II deficiency is a combined immunodeficiency caused by defects in the four regulatory factors, CIITA, RFXANK, RFX5 and RFXAP, that control MHC II expression at the transcriptional level. The RFXANK gene encodes one subunit of the heterotrimeric RFX complex that is involved in the assembly...

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Veröffentlicht in:	Immunogenetics (New York) 2003-02, Vol.54 (11), p.747-755
Hauptverfasser:	Wiszniewski, Wojciech, Fondaneche, Marie-Claude, Louise-Plence, Pascale, Prochnicka-Chalufour, Ada, Selz, Françoise, Picard, Cappucine, Le Deist, Françoise, Eliaou, Jean-François, Fischer, Alain, Lisowska-Grospierre, Barbara
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Ankyrin Repeat Base Sequence Binding Sites - genetics Cell Line, Transformed DNA, Complementary - genetics DNA-Binding Proteins - chemistry DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Fibroblasts Genes Genes, MHC Class II Humans Immune system Models, Molecular Mutants Mutation Patients Point Mutation Promoter Regions, Genetic Protein Structure, Secondary Protein Subunits Proteins Recombinant Proteins - chemistry Recombinant Proteins - genetics Recombinant Proteins - metabolism Regulatory Factor X Transcription Factors RNA, Messenger - genetics RNA, Messenger - metabolism Sequence Deletion Severe Combined Immunodeficiency - genetics Severe Combined Immunodeficiency - immunology Transcription Factors - chemistry Transcription Factors - genetics Transcription Factors - metabolism Transcriptional Activation
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