title: GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif 'GUCE'.
abstract: GTF2IRD1 is a member of a family of transcription factors whose defining characteristic is varying numbers of a helix-loop-helix like motif, the I-repeat. Here, we present functional analysis of human GTF2IRD1 in regulation of three genes (HOXC8, GOOSECOID and TROPONIN I(SLOW)). We define a regulatory motif (GUCE-GTF2IRD1 Upstream Control Element) common to all three genes. GUCE is bound in vitro by domain I-4 of GTF2IRD1 and mediates transcriptional regulation by GTF2IRD1 in vivo. Definition of this site will assist in identification of other downstream targets of GTF2IRD1 and elucidation of its role in the human developmental disorder Williams-Beuren syndrome.
authors.affiliation: Academic Unit of Medical Genetics, The University of Manchester, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK.
authors.forename: P D
authors.initials: PD
authors.lastname: Thompson
authors.forename: M
authors.initials: M
authors.lastname: Webb
authors.forename: W
authors.initials: W
authors.lastname: Beckett
authors.forename: T
authors.initials: T
authors.lastname: Hinsley
authors.forename: T
authors.initials: T
authors.lastname: Jowitt
authors.forename: A D
authors.initials: AD
authors.lastname: Sharrocks
authors.forename: M
authors.initials: M
authors.lastname: Tassabehji
mesh_terms: D017124:Conserved Sequence; D004247:DNA / Q000235:genetics*; D005786:Gene Expression Regulation; D051956:Goosecoid Protein / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D009124:Muscle Proteins / Q000502:physiology*; D009687:Nuclear Proteins / Q000502:physiology*; D011485:Protein Binding; D050436:Regulatory Elements, Transcriptional; D015534:Trans-Activators / Q000502:physiology*; D014158:Transcription, Genetic; D019210:Troponin I / Q000235:genetics; D018980:Williams Syndrome / Q000235:genetics
chemical_list: C405493:GTF2IRD1 protein, human; D051956:Goosecoid Protein; C489815:HOXC8 protein, human; D018398:Homeodomain Proteins; D009124:Muscle Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; D019210:Troponin I; D004247:DNA