Fig. 2

Functional analysis of DAND5 variant. The identified p.R152H variant was evaluated through a luciferase assay as readout of Nodal signaling. In this assay a luciferase reporter gene under the control of three activin-responsive elements promoter, pAR3-lux, which is transcriptionally activated by Nodal signaling, was used. The results, from triplicates of three independent experiments, showed that the p.R152H DAND5 variant leads to an increase of NODAL signaling when compared to WT DAND5 protein. The effect of the different genes altogether and the individual effect for each one are shown. Data are shown as mean values from three independent experiments, with the bars indicating the S.D. Asterisks: sample with a significant difference (P < 0.01, t-test) calculated from comparison with wild-type