title: Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency.
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.
authors.affiliation: Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland.
authors.forename: J
authors.initials: J
authors.lastname: Villard
authors.forename: W
authors.initials: W
authors.lastname: Reith
authors.forename: E
authors.initials: E
authors.lastname: Barras
authors.forename: A
authors.initials: A
authors.lastname: Gos
authors.forename: M A
authors.initials: MA
authors.lastname: Morris
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: P J
authors.initials: PJ
authors.lastname: Van den Elsen
authors.forename: B
authors.initials: B
authors.lastname: Mach
mesh_terms: D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005802:Genes, MHC Class II / Q000235:genetics*; D006580:Genetic Carrier Screening; D005816:Genetic Complementation Test; D006801:Humans; D008297:Male; D000071701:Regulatory Factor X Transcription Factors; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D004268:DNA-Binding Proteins; C093524:RFX5 protein, human; D000071701:Regulatory Factor X Transcription Factors; D014157:Transcription Factors