

Other version: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1169704/pdf/001045.pdf
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RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency |
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Published in | EMBO Journal. 1997, vol. 16, no. 5, p. 1045-1055 | |
Abstract | Major Histocompatibility Complex class II (MHC-II) deficiency is a disease of gene regulation that provides a unique opportunity for the genetic dissection of the molecular mechanisms controlling transcription of MHC-II genes. Cell lines from MHC-II deficiency patients have been assigned to three complementation groups (A, B and C) believed to reflect the existence of distinct essential MHC-II regulatory genes. Groups B and C, as well as an in vitro generated regulatory mutant representing a fourth group (D), are characterized by a specific defect in the binding activity of RFX, a multimeric DNA binding complex that is essential for activation of MHC-II promoters. RFX5, a subunit of RFX, was recently shown to be mutated in group C. We have now isolated a novel gene, RFXAP (RFX Associated Protein), that encodes a second subunit of the RFX complex. RFXAP is mutated in the 6.1.6 cell line (group D), as well as in an MHC-II deficiency patient (DA). This establishes that group D is indeed a fourth MHC-II deficiency complementation group. Complementation of the 6.1.6 and DA cell lines by transfection with RFXAP fully restores expression of all endogenous MHC-II genes in vivo, demonstrating that RFXAP is a novel essential MHC-II regulatory gene. | |
Keywords | Amino Acid Sequence — Base Sequence — DNA/ metabolism — DNA-Binding Proteins/ chemistry/ genetics/metabolism — Flow Cytometry — Gene Expression Regulation/genetics — Genes, MHC Class II/ genetics — Genetic Complementation Test — Humans — Molecular Sequence Data — Mutation — Sequence Analysis — Severe Combined Immunodeficiency/ genetics — Transcription Factors/ chemistry/ genetics/metabolism — Transformation, Genetic/genetics | |
Identifiers | PMID: 9118943 | |
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![]() ![]() Other version: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1169704/pdf/001045.pdf |
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Citation (ISO format) | DURAND, Bénédicte et al. RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. In: EMBO journal, 1997, vol. 16, n° 5, p. 1045-1055. doi: 10.1093/emboj/16.5.1045 https://archive-ouverte.unige.ch/unige:11231 |