title: Partial characterisation of the human GFAT promoter: effect of single nucleotide polymorphisms on promoter function.
abstract: The 5'-flanking region of the human glutamine:fructose-6-phosphate amidotransferase (GFAT) gene was characterised as a functional active promoter and the GFAT gene contained multiple transcription start sites. A novel single nucleotide polymorphism identified at position -1412 (G to C) had a functional effect on promoter activity and EMSA revealed specific binding of nuclear proteins to this region.
authors.affiliation: Department of Endocrinology, Metabolism and Clinical Chemistry, University of Tuebingen, Germany.
authors.forename: Davina
authors.initials: D
authors.lastname: Burt
authors.forename: Katrin
authors.initials: K
authors.lastname: Brodbeck
authors.forename: Hans U
authors.initials: HU
authors.lastname: Häring
authors.forename: Erwin D
authors.initials: ED
authors.lastname: Schleicher
authors.forename: Cora
authors.initials: C
authors.lastname: Weigert
mesh_terms: D024506:5' Flanking Region / Q000235:genetics; D001483:Base Sequence; D002460:Cell Line; D017930:Genes, Reporter; D005945:Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing) / Q000235:genetics*; D006801:Humans; D008156:Luciferases / Q000032:analysis / Q000235:genetics; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D024363:Transcription Initiation Site
chemical_list: D008156:Luciferases; C497511:GFPT1 protein, human; D005945:Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing)