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 journalArticle

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).

Original languageEnglish
Pages (from-to)163-170
Number of pages8
JournalCell Biochemistry and Function
Volume20
Issue number2
DOIs
Publication statusPublished - 2002

Fingerprint

5' Flanking Region
Ubiquitin
Fusion reactions
Genes
Degradation
TATA Box
Transcription Factor TFIID
DiGeorge Syndrome
Branchial Region
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
CpG Islands
Nucleic Acid Regulatory Sequences
Transcription Initiation Site
Transcription Factor AP-1
Consensus Sequence
Functional analysis
Reporter Genes
Arches
Transfection
Transcription

Keywords

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

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Cell Biology

Cite this

Functional characterization of the 5′ flanking region of human Ubiquitin Fusion Degradation 1 Like gene (UFD1L). / Amati, Francesca; Conti, Emanuela; Botta, Annalisa; Amicucci, Paola; Dallapiccola, Bruno; Novelli, Giuseppe.

In: Cell Biochemistry and Function, Vol. 20, No. 2, 2002, p. 163-170.

Research output: Contribution to journalArticle

Amati, Francesca ; Conti, Emanuela ; Botta, Annalisa ; Amicucci, Paola ; Dallapiccola, Bruno ; Novelli, Giuseppe. / Functional characterization of the 5′ flanking region of human Ubiquitin Fusion Degradation 1 Like gene (UFD1L). In: Cell Biochemistry and Function. 2002 ; Vol. 20, No. 2. pp. 163-170.
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