RT-qPCR validations for RNA-seq results. (A, B) RT-qPCR validation of differential expression by major gene groups: (A) at 3dpf. Gene expression in a pool of 20 mutants is normalized to gapdh and relative to expression in a pool of 15 siblings, marked by a black dashed line, with siblings average standard error of means of 3 technical replicates in grey. Error bars indicate mutant pool’s standard error of means of 3 technical replicates. (B) at 5dpf. Gene expression in a pool of 9 mutants is normalized to gapdh and relative to expression in a pool of 9 WT siblings, marked by a black dashed line, with WT average standard error of means of 3 technical replicates in grey. Error bars indicate mutant pool’s standard error of means of 3 technical replicates. (C) aaRS genes upregulated in fibroblasts derived from an individual with the monoallelic, dominant negative ATAD3A variant. Gene expression is normalized to GAPDH and relative to expression in control fibroblasts (marked by a black line), with the average standard error of means of 3 technical replicates in grey. Error bars indicate standard error of means in 3 technical replicates of affected fibroblasts. Asterisks represent levels of significance (*p < 0.05, **p < 0.01, ***p < 0.001).
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