Fig. 9: BMPR2 mutations that disrupt BMP10 binding also result in impaired BMPRII-mediated signalling.

BMPRII-mediated signalling assay was established by transfecting cells with pcDEF plasmids containing short form of BMPR2 WT or mutant sequences. a, b HepG2 (a) and 2H-11 (b) cells were seeded in 24-well plates and transfected with BRE-luc reporter, β-gal plasmid (transfection control) and mutant or WT BMPR2 plasmids in triplicate. 48 h post-transfection, the cells were serum-starved overnight before luciferase activity was measured. c HEK-EBNA cells were seeded in 6 well plates and transfected with the same set of BMPR2 plasmids over 24-hour duration before harvesting for RNA and qPCR analysis of ID1 gene expression. Gene expression level is presented as fold-change relative to B2M and further normalised to control (transfected with vector only). N = 5, with each N number represents an independent transfection and signalling experiment. For a–c, means ± SEM are shown, data were analysed using One-way ANOVA with Dunnett’s post test for comparing with WT transfection. #P < 0.05, ##P < 0.01, ###P < 0.001, ####P < 0.0001. Source data, including the exact p values, are provided as a Source Data file. Colour scheme and abbreviations are the same as in Fig. 8.