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 language | English |
|---|---|
| Pages (from-to) | 163-170 |
| Number of pages | 8 |
| Journal | Cell Biochemistry and Function |
| Volume | 20 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2002 |
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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 journal › Article
}
TY - JOUR
T1 - Functional characterization of the 5′ flanking region of human Ubiquitin Fusion Degradation 1 Like gene (UFD1L)
AU - Amati, Francesca
AU - Conti, Emanuela
AU - Botta, Annalisa
AU - Amicucci, Paola
AU - Dallapiccola, Bruno
AU - Novelli, Giuseppe
PY - 2002
Y1 - 2002
N2 - 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).
AB - 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).
KW - Chromosome 22q11
KW - GFP expression
KW - Transcriptional regulation
KW - Ubiquitin
UR - http://www.scopus.com/inward/record.url?scp=0036098381&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036098381&partnerID=8YFLogxK
U2 - 10.1002/cbf.966
DO - 10.1002/cbf.966
M3 - Article
C2 - 11979512
AN - SCOPUS:0036098381
VL - 20
SP - 163
EP - 170
JO - Cell Biochemistry and Function
JF - Cell Biochemistry and Function
SN - 0263-6484
IS - 2
ER -