Figure 5 | Scientific Reports

Figure 5

From: de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

Figure 5

Expression of several RNAP II-synthesized genes is increased in patient-derived cells. Quantification of ID2 (a), ID3 (b) and MRPL11 mRNAs (c) and U1 (d), U2 (e) and U4 snRNAs (fā€Š) by RT-qPCR. RNA was obtained from fibroblasts of the patient, the patient’s mother, four healthy individuals (Control 1–4) and LARP7 KO cultured under normal conditions. GAPDH mRNA was used as an internal control, and the amount of each analysed RNA relative to GAPDH mRNA is presented. The mean of three independent experiments ± SD is given. *p ≤ 0.05; **p ≤ 0.01; ***p ≤ 0.001; ****p ≤ 0.0001 by one-way ANOVA followed by Bonferroni post-hoc test for multiple comparison. ns, not significant.

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