Changes in the transcriptome of HEK293T caused by mutations in the uS10 ribosomal protein

We transfected HEK293T cells with constructs carrying the uS10 ribosomal protein minigene with mutations identical to those mentioned above and examined the effects of the produced proteins on the cellular transcriptome. We showed that truncated forms of uS10 with mutations p.V50SfsX23 or p.L61EfsX11 cannot be incorporated into small (40S) ribosomal subunits, while the protein with the missense mutation p.V54L functionally replaces the respective endogenous protein in 40S subunit assembly and translation. The comparison of RNA-seq data obtained from cell producing aberrant forms of uS10 with data for those producing the wild-type protein revealed overlapping sets of differently expressed genes (DEGs), represented by up-regulated ones, which are largely associated with the p53 regulation pathway, the response to DNA damage and the induction of cellular senescence. Besides, down-regulated DFGs were found, which were abundant in cells producing uS10 with the p.L61EfsX11 mutation, being mainly related to the collagen fibril organization process.