Rescue of med27 KO fish phenotype by human MED27. The results presented here are from the INS10 mutant line. For results from the INS5 and DEL5 mutant lines, refer to Fig. S7. A Three categories of phenotypes observed in larvae at 3 dpf after embryonic injection. B Distribution of larvae phenotypes after microinjection of different doses of WT MED27 mRNA into med27−/− embryos. The control group was injected with water (n = 20), and the following groups were injected with 40 pg (n = 24), 200 pg (n = 24), and 800 pg (n = 25) of WT MED27 mRNA. C Distribution of phenotypes after rescue experiments using WT MED27 mRNA or patient-specific mutant MED27 mRNA. The water-injected group (n = 29) served as the control, while the following groups were injected with: MED27-WT (n = 28), MED27-V242A (n = 25), MED27-P259L (n = 24), MED27-P280L (n = 23), and MED27-G291S (n = 25). D Distribution of larval phenotypes after microinjection of water (n = 262), med27 KD morpholino (MO group, n = 311), morpholino control (MO con group, n = 312), and med27 KD morpholino plus WT MED27 mRNA (MO rescue group, n = 283). Phenotype comparisons were analyzed using chi-square tests. ns: not significant; *: P < 0.05; ***: P < 0.001; ****: P < 0.0001
|
