The HERC2 rs12913832 enhancer is regulated by the transcription factors HLTF, MITF, and LEF1. (A) ChIP-qPCR of HLTF at the rs12913832 region in HEMn-LP (C-allele) and HEMn-DP (T-allele) cells. HLTF binding is only observed for the T-allele. (B) Overexpression of HLTF in HEMn-DP cells results in increased OCA2 expression but not in HEMn-LP cells. (C) ChIP-qPCR of MITF at the HERC2 rs12913832 region in HEMn-LP (C-allele) and HEMn-DP (T-allele) cells. MITF binding is only observed for the T-allele. (D) ChIP-qPCR of LEF1 at the HERC2 rs12913832 region in HEMn-LP (C-allele) and HEMn-DP (T-allele) cells. LEF1 binding is only observed for the T-allele. ChIP enrichments displayed are relative to NDN. (E) Overexpression of MITF in HEMn-LP cells results in increased OCA2 expression. This is not observed in HEMn-DP cells. Overexpression of a dominant negative MITF (dnMITF) results in decreased OCA2 expression in both HEMn-LP and HEMn-DP cells. Expression is relative to ACTB expression and nontransfected control cells. Data are represented as mean ± SEM; (*) p < 0.05; (**) p < 0.01; (***) p < 0.005.
