FIGURE 5

Comparison of the transcriptome of double homozygous zebrafish larvae and human SEGA samples. (A) Overlap of differentially expressed genes between tsc2 ^−/− zebrafish larvae, double homozygous zebrafish larvae (after conversion to human orthologs) and SEGA samples. 38% and 13% of total DEGs in the SEGA transcriptome were found to overlap with the double and tsc2 homozygotes transcriptome, respectively. A Chi-square test indicated that there was a statistically significant association (p = 2.2e-16) between the zebrafish genotype and the proportion of overlapping genes. (B) Enriched GO terms from up and downregulated genes that are shared between double homozygous zebrafish larvae and human SEGA samples. Terms enriched amongst upregulated genes are indicated in red, terms enriched amongst downregulated genes are indicated in blue. The x-axis represents the log10 (1/p-value), n indicates the number of genes appearing in each category. (C) Representative electron microscopy images (scale bar; 500 nm) visualizing mitochondria in wild-type, depdc5 ^−/−, tsc2 ^−/− , and double homozygous zebrafish larvae at 5 dpf. n = 1 larvae/group (D) Mitochondrial copy number in wild-type, depdc5 ^−/−, tsc2 ^−/− , and double homozygous zebrafish heads at 5 dpf. Data are presented as mean ± SEM, n = 3–6 larvae/condition. Significant values (one-way ANOVA) are noted as *p < 0.05. (E) ATP Levels in wild-type, depdc5 ^−/−, tsc2 ^−/− , and double homozygous zebrafish heads at 5 dpf. Data are presented as mean ± SEM, n = 15–20 larvae/condition. No statistical significant differences were detected (one-way ANOVA).