Fig. 7

Disruption in nonsense-mediated decay (NMD) and protein translation in R514G mice. a Simplified schematic of mRNA processing to protein translation. Exon junction complexes (EJCs) are deposited at exon–exon junctions upon completion of splicing. Components of nonsense-mediated decay, such as UPF3, associate with EJCs. Translation initiation requires eIF4F complex that binds to the 5′-cap of mRNA and 43S pre-initiation complex containing 40S ribosome. b Heat map of the expression level of the DEGs for EJC-NMD, translation initiation and ribosomal subunits in non-transgenic, WT-FUS and R514G-FUS mice along with their mean expression level across all samples (log10(TPM)), and p-value (− log10(p-value)) and fold change (log2(fold change)) in R514G-FUS mice as compared to non-transgenic mice. Positive and negative fold change are colored red and blue respectively and p-values corresponding to significant q-values < 0.1 are colored in yellow