Scientific Article
previous document  unige:10942  next document
add to browser collection
Title

Molecular genetics of the Bare lymphocyte syndrome

Authors
Muhlethaler-Mottet, Annick
Peretti, M.
Published in Reviews in Immunogenetics. 2000, vol. 2, no. 2, p. 267-282
Abstract Major Histocompatibility Complex class II (MHC-II) molecules play a pivotal role in the adaptive immune system because they direct the development, activation and homeostasis of CD4+ T helper cells. Hereditary defects leading to the absence of MHC-II expression result in a severe autosomal recessive immunodeficiency disease called the Bare Lymphocyte Syndrome (BLS), also referred to as MHC-II deficiency. The genetic lesions responsible for BLS do not lie within the MHC-II locus itself, but reside instead in genes encoding transcription factors controlling MHC-II expression. Mutations in four different MHC-II regulatory genes are known to lead to BLS. These genes encode CIITA, RFXANK, RFX5 and RFXAP. CIITA (Class II Transactivator) is a transcriptional coactivator that functions as a master control factor dictating the cell type specificity, induction and level of MHC-II expression. RFXANK, RFX5 and RFXAP are the three subunits of RFX (regulatory factor X), a DNA-binding complex that binds to a conserved cis-acting sequence, the X box, present in the promoters of all MHC-II genes. Elucidation of the molecular defects underlying BLS has led to major advances in our understanding of the mechanisms regulating expression of MHC-II genes.
Keywords AnimalsDNA-Binding Proteins/geneticsGenes, MHC Class II/geneticsHistocompatibility Antigens Class II/geneticsHumansMiceMolecular BiologySevere Combined Immunodeficiency/ geneticsTranscription Factors/genetics
Identifiers
PMID: 11258423
Full text
This document has no fulltext available yet, but you can contact its author by using the form below.
Citation
(ISO format)
MASTERNAK, Krzysztof et al. Molecular genetics of the Bare lymphocyte syndrome. In: Reviews in Immunogenetics, 2000, vol. 2, n° 2, p. 267-282. https://archive-ouverte.unige.ch/unige:10942

177 hits

0 download

Update

Deposited on : 2010-08-26

Export document
Format :
Citation style :