Figure 4.

Functional effect of the TBX5 c.1333delC mutation on transcriptional regulation. COS-7 cells were transiently co-transfected either with mutant or wild type TBX5 expression constructs and a reporter encoding the luciferase gene under the control of the ANF promoter. Values were calculated by normalizing against Renilla reniformis luciferase activity and compared to the empty FLAG vector (column 1). Wild type TBX5-FLAG and TBX5-GFP effectively induced expression of the reporter gene (columns 2 and 3), whereas cells transfected with rising amounts of the mutant TBX5 construct demonstrated entire abrogation of reporter gene activation compared to wild type TBX5 (column 4, 5, 6).