Figure 9

neb mutants show altered transcriptome profile. (A–D) Dendrograms and heatmaps from Metascape enrichment analysis illustrating selective (unique to each comparison in the study) and shared (common to all the comparisons in the study) enriched terms. (A) Selective downregulated pathways. (B) Shared downregulated pathways. Many of the downregulated genes in the nonsense mutants and the splice mutants neb^hu28 and neb²¹ are involved in muscle contraction, muscle tissue development, and intermediate filament-based processes. (C) Selective upregulated pathways. (D) Shared upregulated pathways. Highly upregulated genes in the nonsense mutants are mostly involved in protein degradation processes and response to stress, and cluster under the proteasome and stress response pathways. The heatmap cells are coloured by their p-values; white cells indicate the lack of enrichment for that term in the corresponding gene list. p-value cutoff = 0.05; minimum enrichment = 1.5; minimum overlap = 3; kappa score = 0.3. (E) UpSet plot illustrating number of DEGs unique and shared between the data sets. The nonsense mutants and neb^hu28 cluster together. Only three DEGs are shared by all five neb mutants depicted in the plot. (F) Dendrogram and heatmap illustrating expression of nemaline myopathy genes in nebulin mutants. Noticeable, acta1 and tnnt1 are downregulated in several of the mutants investigated in this study. See Supplemental Table 7 for recorded values.