title: Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).
abstract: UFD1L (Ubiquitin Fusion Degradation 1 Like) gene encodes for a component of a multi-complex involved in the degradation of ubiquitin fusion proteins. The gene maps on chromosome 22q11, in a region commonly deleted in severe congenital disorders such as DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. UFD1L is a single copy gene ubiquitously expressed in high levels in the pharyngeal pouches and fourth branchial arch artery during development. To understand the regulation of UFD1L expression we performed a functional analysis of its 5' regulatory region. 5'-RACE and primer extension analyses revealed the presence of different transcription start sites in adult and fetal tissues. UFD1L 5' flanking region contains a TATA-box motif and is also very GC-rich with a CpG island encompassing exon 1. Transcriptional activity of this region was examined by transfection experiments of promoter-GFP reporter gene constructs in a human epithelial cell line. These experiments revealed the importance of the region between -17 and -463 nt which contains the TATA-box. EMSA assay resulted in the detection of five functional consensus sequences respectively for the transcription complex TFIID and for the transcription factors AP-1 (one site), AP-2 (one) and Sp1 (two).
authors.affiliation: Dipartimento di Biopatologia e Diagnostica per Immagini, Università Tor Vergata, Via Montpellier 1, 00133 Roma, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Amati
authors.forename: Emanuela
authors.initials: E
authors.lastname: Conti
authors.forename: Annalisa
authors.initials: A
authors.lastname: Botta
authors.forename: Paola
authors.initials: P
authors.lastname: Amicucci
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
mesh_terms: D024506:5' Flanking Region / Q000502:physiology*; D033942:Adaptor Proteins, Vesicular Transport; D000818:Animals; D001483:Base Sequence; D001665:Binding Sites; D004247:DNA; D004268:DNA-Binding Proteins / Q000378:metabolism; D005786:Gene Expression Regulation; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic; D011506:Proteins / Q000235:genetics*; D016329:Sp1 Transcription Factor / Q000378:metabolism; D018808:Transcription Factor AP-1 / Q000378:metabolism; D050656:Transcription Factor AP-2; D035362:Transcription Factor TFIID; D014157:Transcription Factors / Q000378:metabolism; D019473:Transcription Factors, TFII / Q000378:metabolism
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; D016329:Sp1 Transcription Factor; D018808:Transcription Factor AP-1; D050656:Transcription Factor AP-2; D035362:Transcription Factor TFIID; D014157:Transcription Factors; D019473:Transcription Factors, TFII; C491497:UFD1 protein, human; D004247:DNA