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

Reith W; Satola S; Sanchez CH; Amaldi I; Lisowska-Grospierre B; Griscelli C; Hadam MR; Mach B

doi:10.1016/s0092-8674(88)90389-3

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

Lisowska-Grospierre B ,

Griscelli C ,

Hadam MR ,

Mach B

Affiliations

1. Department of Microbiology, University of Geneva Medical School, Switzerland.
Authors
Reith W¹
(1 author)

Cell, 01 Jun 1988, 53(6):897-906
https://doi.org/10.1016/s0092-8674(88)90389-3 PMID: 3133120

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.

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References

Articles referenced by this article (63)

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

Affiliations

Authors

Abstract

Full text links

References

Human B cell variants immunoselected against a single Ia antigen subset have lost expression of several Ia antigen subsets.

Reactivation by a trans-acting factor of human major histocompatibility complex la gene expression in interspecies hybrids between an la-negative human B-cell variant and an la-positive mouse B-cell lymphoma

Molecular genetics of the human major histocompatibility complex

Recombinant interferon-gamma increases HLA-DR synthesis and expression.

A hypothesis to relate the specificity of T lymphocytes and the activity of I region-specific Ir genes in macrophages and B lymphocytes.

Role of MHC gene products in immune regulation.

Constitutive and induced expression of the individual HLA-DR β and α chain loci in different cell types

Human proto-oncogene c-jun encodes a DNA binding protein with structural and functional properties of transcription factor AP-1.

A transcription factor which binds to the enhancers of SV40, immunoglobulin heavy chain and U2 snRNA genes.

Regulation of a transfected human class II major histocompatibility complex gene in human fibroblasts

Citations & impact

Impact metrics

Citations of article over time

Smart citations by scite.ai
Explore citation contexts and check if this article has been supported or disputed.
https://scite.ai/reports/10.1016/s0092-8674(88)90389-3

Article citations

Epigenetic regulation of major histocompatibility complexes in gastrointestinal malignancies and the potential for clinical interception.

Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.

Novel variations in spermatogenic transcription regulators RFX2 and TAF7 increase risk of azoospermia.

Transcription factor RFX7 governs a tumor suppressor network in response to p53 and stress.

Genetic mapping of metabolic traits in the blind Mexican cavefish reveals sex-dependent quantitative trait loci associated with cave adaptation.

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Search life-sciences literature (45,103,589 articles, preprints and more)

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

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Affiliations

Authors

Abstract

Full text links

References

Reactivation by a trans-acting factor of human major histocompatibility complex la gene expression in interspecies hybrids between an la-negative human B-cell variant and an la-positive mouse B-cell lymphoma

Molecular genetics of the human major histocompatibility complex

Constitutive and induced expression of the individual HLA-DR β and α chain loci in different cell types

Regulation of a transfected human class II major histocompatibility complex gene in human fibroblasts

Citations & impact

Impact metrics

Citations of article over time

Article citations

Protocols & materials

Cellosaurus (3)

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