title: The genes for MHC class II regulatory factors RFX1 and RFX2 are located on the short arm of chromosome 19.
abstract: RFX1 is a transacting DNA-binding regulatory factor involved in the control of MHC class II gene expression. RFX2 is a structurally very similar protein with identical DNA binding features. A member of the family of RFX factors is affected in an autosomal recessive disease, MHC class II deficient combined immunodeficiency (CID), caused by a defect in a trans-acting regulatory factor controlling MHC class II gene expression. In situ hybridization with 3H-labeled RFX1 cDNA has allowed us to identify two distinct targets on the short arm of chromosome 19 (19p13.1 and 19p13.2-p13.3). With the use of biotinylated genomic cosmid clones specific for RFX1 and RFX2, respectively, it was then possible to localize RFX1 at 19p13.1 and RFX2 at 19p13.2-p13.3. These two regulatory genes are thus assigned to a region of high gene density and RFX1 is close to another DNA-binding factor, LYL1.
authors.affiliation: Jeantet Laboratory of Molecular Genetics, Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland.
authors.forename: L
authors.initials: L
authors.lastname: Pugliatti
authors.forename: J
authors.initials: J
authors.lastname: Derré
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: C
authors.initials: C
authors.lastname: Ucla
authors.forename: W
authors.initials: W
authors.lastname: Reith
authors.forename: B
authors.initials: B
authors.lastname: Mach
mesh_terms: D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004247:DNA; D004268:DNA-Binding Proteins / Q000235:genetics*; D005786:Gene Expression Regulation; D005802:Genes, MHC Class II; D006801:Humans; D007621:Karyotyping; D008677:Metaphase; D009693:Nucleic Acid Hybridization; D000071701:Regulatory Factor X Transcription Factors; D000071716:Regulatory Factor X1; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; C000605537:RFX1 protein, human; D000071701:Regulatory Factor X Transcription Factors; D000071716:Regulatory Factor X1; D014157:Transcription Factors; D004247:DNA