SMAD1 Loss-of-Function Variant Responsible for Congenital Heart Disease

Figure 2

Functional impairment of SMAD1 caused by the variation. Dual-luciferase reporter analysis of the transcriptional activation of TBX20 promoter-driven firefly luciferase in cultured COS7 cells by equal amount of wild-type or Tyr88-mutant SMAD1 plasmid, singly or in combination, demonstrated that Tyr88-mutant SMAD1 lost transcriptional activity. Three transient transfection experiments were performed in triplicate for every expression plasmid. The results are reported as the deviation of the data from three independent reporter assays. and , when compared with wild-type SMAD1 (400 ng).