Appendix 7 of Reinisalo, Mol Vis 2012; 18:38-54.
SNP (rs4547091) in OTX2 binding element 3 (−226 to −221) decrease the activity of the human tyrosinase promoter dramatically in the presence of OTX2 and MITF-A. To access the data, click or select the words “Appendix 7.” This will initiate the download of a compressed (pdf) archive that contains the file. Lucreporter construct containing the tyrosinase promoter fragments Enh./-2525, Enh./-2525SNP, −462, −462SNP or −462m3 were co-transfected into D407 RPE cells with MITF-A, OTX2, MITF-A/OTX2 factors or with empty expression vector (pCR3). Normalized luciferase activities are relative to tyrosinase promoter construct −152 (=1) co-transfected with empty expression vector pCR3 (not shown). Data are means±SEM from two independent transfections performed in triplicate.