TY - JOUR
T1 - Allelic polymorphisms in the transcriptional regulatory region of human SEL1L
AU - Cattaneo, Monica
AU - Zollo, Massimo
AU - Malferrari, Giulia
AU - Orlandi, Rosaria
AU - D'Angelo, Anna
AU - Menard, Sylvie
AU - Biunno, Ida
PY - 2001
Y1 - 2001
N2 - In this work, we explored the existence of genetic variants within the SEL1L transcriptional regulatory region by direct sequencing of the basal promoter. SEL1L is the human ortholog of the Caenorhabditis elegans gene sel-1, a negative regulator of LIN-12/NOTCH receptor proteins. To understand the relation in SEL1L transcription pattern observed in different epithelial cells, we analysed its promoter activity. We found it to be considerably higher only in pancreatic cells. We then looked for the presence of genetic variability within this region by sequencing the minimal promoter of 63 individuals (126 alleles); two new and associated polymorphic variants were found only in few lung carcinoma bearing patients. The functional effects of this polymorphism was analysed by transient transfection assay which resulted in a significant increase in the transcriptional activity of the gene.
AB - In this work, we explored the existence of genetic variants within the SEL1L transcriptional regulatory region by direct sequencing of the basal promoter. SEL1L is the human ortholog of the Caenorhabditis elegans gene sel-1, a negative regulator of LIN-12/NOTCH receptor proteins. To understand the relation in SEL1L transcription pattern observed in different epithelial cells, we analysed its promoter activity. We found it to be considerably higher only in pancreatic cells. We then looked for the presence of genetic variability within this region by sequencing the minimal promoter of 63 individuals (126 alleles); two new and associated polymorphic variants were found only in few lung carcinoma bearing patients. The functional effects of this polymorphism was analysed by transient transfection assay which resulted in a significant increase in the transcriptional activity of the gene.
KW - Functional polymorphism
KW - Minimal promoter
KW - SEL1L (a pancreas-specific gene)
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U2 - 10.1016/S0027-5107(01)00241-X
DO - 10.1016/S0027-5107(01)00241-X
M3 - Article
C2 - 11691638
AN - SCOPUS:0034749577
VL - 458
SP - 71
EP - 76
JO - Mutation Research - Mutation Research Genomics
JF - Mutation Research - Mutation Research Genomics
SN - 1383-5726
IS - 3-4
ER -