Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X
|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-Lymphocytes — Base Sequence — Binding, Competitive — Cell Line — DNA-Binding Proteins/ analysis/genetics — Deoxyribonuclease I — Electrophoresis, Polyacrylamide Gel — Gene Expression Regulation — Genes, MHC Class II — HLA-D Antigens/ genetics — HLA-DR Antigens/ genetics — Humans — Immunologic Deficiency Syndromes/congenital/ genetics — Methylation — Molecular Sequence Data — Mutation — Nuclear Proteins/metabolism — Promoter Regions, Genetic — Transcription Factors — Transcription, Genetic|
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