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Title

Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency

Authors
Gos, A.
Van den Elsen, P. J.
Published in Human Mutation. 1997, vol. 10, no. 6, p. 430-435
Abstract MHC class II deficiency is a severe primary immunodeficiency characterised by the absence of major histocompatibility complex class II (MHC-II) gene expression. It is genetically heterogeneous and can result from defects in at least four different trans-acting regulatory genes required for transcription of MHC-II genes. One of these genes has recently been shown to encode a novel DNA binding protein called RFX5, which is one subunit of a heteromeric protein complex (RFX) that binds to the promoters of MHC-II genes. We have characterised the mutations in all four patients known to harbour a defect in the RFX5 gene and have mapped this new human disease gene to chromosome 1 band q21, a region frequently exhibiting chromosomal aberrations in a variety of preneoplastic and neoplastic diseases.
Keywords Chromosome MappingChromosomes, Human, Pair 1/geneticsCloning, MolecularDNA Mutational AnalysisDNA, Complementary/geneticsDNA-Binding Proteins/ geneticsFemaleGenes, MHC Class II/ geneticsGenetic Complementation TestHeterozygote DetectionHumansMaleSevere Combined Immunodeficiency/ geneticsTranscription Factors/genetics
Identifiers
PMID: 9401005
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VILLARD, Jean et al. Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. In: Human Mutation, 1997, vol. 10, n° 6, p. 430-435. https://archive-ouverte.unige.ch/unige:9076

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Deposited on : 2010-07-12

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