Functional characterization of the 5′ flanking region of human Ubiquitin Fusion Degradation 1 Like gene (UFD1L)

Francesca Amati, Emanuela Conti, Annalisa Botta, Paola Amicucci, Bruno Dallapiccola, Giuseppe Novelli

Research output: Contribution to journalArticlepeer-review


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).

Original languageEnglish
Pages (from-to)163-170
Number of pages8
JournalCell Biochemistry and Function
Issue number2
Publication statusPublished - 2002


  • Chromosome 22q11
  • GFP expression
  • Transcriptional regulation
  • Ubiquitin

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Cell Biology


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