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Title

Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X

Authors
Satola, S.
Sanchez, C. H.
Amaldi, I.
Lisowska-Grospierre, B.
Griscelli, C.
Hadam, M. R.
Published in Cell. 1988, vol. 53, no. 6, p. 897-906
Abstract The expression of MHC class II genes is tightly regulated. One form of congenital severe combined immunodeficiency (SCID) is characterized by a regulatory defect that precludes expression of HLA class II genes. B lymphocyte cell lines from such SCID patients provide a tool for identifying putative regulatory proteins that bind to class II gene promoters. We have identified three proteins binding to specific segments of the HLA-DRA promoter, two of which interact to form the predominant DNA-protein complex observed. One of these proteins, defined as an X box binding protein (RF-X), is specifically missing in cells from class II deficient SCID patients. We propose that the molecular defect in this congenital HLA class II regulatory deficiency is a lack of RF-X and that this factor plays an important role in the normal regulation of MHC class II gene expression.
Keywords B-LymphocytesBase SequenceBinding, CompetitiveCell LineDNA-Binding Proteins/ analysis/geneticsDeoxyribonuclease IElectrophoresis, Polyacrylamide GelGene Expression RegulationGenes, MHC Class IIHLA-D Antigens/ geneticsHLA-DR Antigens/ geneticsHumansImmunologic Deficiency Syndromes/congenital/ geneticsMethylationMolecular Sequence DataMutationNuclear Proteins/metabolismPromoter Regions, GeneticTranscription FactorsTranscription, Genetic
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PMID: 3133120
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Deposited on : 2010-08-26

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