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Functional characterization of the 5′ flanking region of human ubiquitin fusion degradation 1 like gene ( UFD1L )
Author(s) -
Amati Francesca,
Conti Emanuela,
Botta Annalisa,
Amicucci Paola,
Dallapiccola Bruno,
Novelli Giuseppe
Publication year - 2002
Publication title -
cell biochemistry and function
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.933
H-Index - 61
eISSN - 1099-0844
pISSN - 0263-6484
DOI - 10.1002/cbf.966
Subject(s) - 5' flanking region , biology , gene , tata box , exon , transcription (linguistics) , genetics , microbiology and biotechnology , promoter , reporter gene , fusion gene , gene expression , linguistics , philosophy
Abstract UFD1L ( U biquitin F usion D egradation 1 L ike) 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). Copyright © 2002 John Wiley & Sons, Ltd.