A novel mutation in the steroidogenic acute regulatory protein gene promoter leading to reduced promoter activity.

@article{Casal2006ANM,
  title={A novel mutation in the steroidogenic acute regulatory protein gene promoter leading to reduced promoter activity.},
  author={Andr{\'e}s J Casal and Victoria J P Sinclair and Alessandro M. Capponi and J{\'e}r{\^o}me Nicod and Uyen Huynh-Do and Paolo Ferrari},
  journal={Journal of molecular endocrinology},
  year={2006},
  volume={37 1},
  pages={
          71-80
        }
}
We have identified a novel cytosine/thymidine polymorphism of the human steroidogenic acute regulatory (StAR) gene promoter located 3 bp downstream of the steroidogenic factor-1 (SF-1)-binding site and 9 bp upstream of the TATA box (ATTTAAG). Carriers of this mutation have a high prevalence of primary aldosteronism. In transfection experiments, basal StAR promoter activity was unaltered by the mutation in murine Y-1 cells and human H295R cells. In Y-1 cells, forskolin (25 microM, 6 h… CONTINUE READING
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