Fig. 6

ASS1 deficiency is associated with distinct alterations of gene expression mainly involving (ribo)nucleotide metabolism and cerebral channels/receptors. Total RNA of mock- or MO-injected zebrafish larvae was extracted at developmental age 1 dpf using TRIzol reagent. RNA sequencing was commercially perfomed at Novogene Company Ltd. (UK) according to the service provider's protocols. (A) Volcano plot illustrating differentially expressed genes in ASS1-deficient (ASS1-KO) versus wildtype (WT) zebrafish larvae. Data are expressed in log2FoldChange (abscissa) and -log10(padj) (ordinate). Values for each gene with log2(FoldChange)| ≥ 1 and padj ≤0.05 were considered significant. Whereas the majority of 26,771 genes was not altered between both cohorts, 484 were significantly differentially expressed in ASS1-KO larvae with 185 genes being upregualted and 299 genes being downregulated. (B) Scatter plot of GO enrichment analysis in ASS1-KO zebrafish larvae depicting the ratio of the number of differentially expressed genes linked with a specific GO term to the total number of differential genes (abscissa) for the most significantly enriched GO terms (ordinate). The size of a point represents the number of genes annotated to a specific GO term, and the color grading from red to purple represents the level of significance of enrichment (padj). Alterations in gene expression in ASS1-deficient zebrafish larvae clustered in distinct (metabolic) pathways predominantly involving (ribo)nucleotide metabolism and cerebral channel/receptor expression. (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.)