title: Characterization of FMR1 promoter elements by in vivo-footprinting analysis.
abstract: Fragile X syndrome is associated with silencing of the FMR1 gene. We studied the transcriptional regulation, by analysis of the FMR1 promoter region for the presence of in vivo protein/DNA interactions and for cytosine methylation at the single-nucleotide level. Four protein-binding sites were present in the unmethylated promoter of the active FMR1 gene. In the methylated promoter of inactive genes no footprints were detected, and no evidence of active repression was found in the region investigated. We propose that the silencing of FMR1 gene transcription results from a lack of transcription-factor binding.
authors.affiliation: Abteilung Medizinische Genetik, Universität Ulm, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Schwemmle
authors.forename: E
authors.initials: E
authors.lastname: de Graaff
authors.forename: H
authors.initials: H
authors.lastname: Deissler
authors.forename: D
authors.initials: D
authors.lastname: Gläser
authors.forename: D
authors.initials: D
authors.lastname: Wöhrle
authors.forename: I
authors.initials: I
authors.lastname: Kennerknecht
authors.forename: W
authors.initials: W
authors.lastname: Just
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: W
authors.initials: W
authors.lastname: Döerfler
authors.forename: W
authors.initials: W
authors.lastname: Vogel
authors.forename: P
authors.initials: P
authors.lastname: Steinbach
authors.forename: W
authors.initials: W
authors.lastname: Dörfler
mesh_terms: D000328:Adult; D001483:Base Sequence; D002460:Cell Line; D004247:DNA / Q000737:chemistry / Q000378:metabolism; D018983:DNA Footprinting; D019175:DNA Methylation; D017931:DNA Primers; D004622:Embryo, Mammalian; D005347:Fibroblasts; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D016601:RNA-Binding Proteins; D012016:Reference Values; D013463:Sulfuric Acid Esters
chemical_list: D004247:DNA; D017931:DNA Primers; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D013463:Sulfuric Acid Esters; C497683:FMR1 protein, human; C007482:dimethyl sulfate