Allelic polymorphisms in the transcriptional regulatory region of human SEL1L

Monica Cattaneo, Massimo Zollo, Giulia Malferrari, Rosaria Orlandi, Anna D'Angelo, Sylvie Menard, Ida Biunno

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)71-76
Number of pages6
JournalMutation Research - Mutation Research Genomics
Issue number3-4
Publication statusPublished - 2001


  • Functional polymorphism
  • Minimal promoter
  • SEL1L (a pancreas-specific gene)

ASJC Scopus subject areas

  • Toxicology
  • Genetics


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