FIGURE 6.
Impaired phototransduction was found in PDE6B patient retinal organoids. (A) GO analysis of differentially expressed genes for control and patient organoids at five different time points indicated in RNA-seq. (B) Expression of key genes in phototransduction (PDE6B, GNAT1, PDE6G) and photoreceptor and cone bipolar marker (RCVRN) at different time points included in the RNA-seq analysis. Total RNA of each sample was extracted of 3–5 organoids of two independent differentiations. (C) Representative qPCR results of two independent experiments. The results are the mean values ± SD of three replicates of each sample with 3–5 organoids. Two-tailed t-test, **P < 0.01, ***P < 0.001, ****P < 0.0001, ns P ¿ 0.05. (D) Changes in the expression of genes in the cGMP signaling pathway compared to patient versus control organoids. (E) Concentration of cGMP in retinal organoids. The results are the mean values ± SD of three independent experiments with three organoids in each sample of Control D193, Control D230 and Patient D230, and six independent experiments with three organoids in each sample of Patient D193. LSD test, *P < 0.5, ***P < 0.001.