Fig. 3

SINEUP-CHD8 stimulates protein production in patient-derived CHD8 fibroblasts (A) Schematic representation of the CHD8 variants present in the fibroblast cell lines used in this study. The main CHD8 domains are depicted as colored boxes along the CHD8 protein (CHROMO domains, DEXDc helicase domain, HELC-SANT domain, BRK domain). (B) Representative WBs on patient-derived fibroblasts harboring c.2485dup (left) and c.6307_6310del (right) mutations, transduced with SINEUP_001/003 or with the control vector (pAIB-Empty). (C) Bar graph representing fold change quantification of CHD8 protein level for WB experiments (B) normalized on HSP90. (D and E) Bar graph reporting RT-qPCR quantification of CHD8 transcript expression (D) or SINEUP expression (E) upon SINEUP-CHD8_001/003 or control vector transduction. NONO was used as a stable housekeeping gene for normalization. Data presented as mean normalized relative expression 2(–ΔΔCt) ± SEM. n(WB) = 4–5 replicates per condition, n(RT-qPCR) = 3 replicates per condition; data are presented as scatter dot blot ± SEM, Kruskal-Wallis (WB) and one-way ANOVA (RT-qPCR) followed by post hoc multiple testing correction, significance level ∗∗p ≤ 0.01, ∗p ≤ 0.05; ns, not significant.