Supplementary Figure 11: Pyrosequencing of the PDE3A mutation encoding T445N in MSCs from VI/17.
From: PDE3A mutations cause autosomal dominant hypertension with brachydactyly
The figure shows the raw data from PDE3A pyrosequencing of the patient harboring the T445N substitution. The data shown are from a reverse pyrosequencing approach. The yellow area indicates the position of the PDE3A mutation. The base “G” varies between 50 and 100%, and the base “T” varies between 0 and 50%. The data shown are from three independent replicates; error bars, s.d. The presence of each allele in the reaction is displayed as a percentage. Compared to the wild-type allele “G” (G = 99%, T = 1%), no significant differential expression was detected for the mutated PDE3A “T” allele of the patient harboring the T445N substitution (G = 55%, T = 45%). Preferred monoallelic expression, due to either the mutation or the inversion, was excluded.
