Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation

Ribosome biogenesis defects in rrp4-G226D, rrp40-W195R, and rrp46-L191H mutant cells. (A) Northern blot analysis of steady-state levels of precursor rRNA levels in the indicated cells. Three biological replicates were grown at 30°C and analyzed. (B) Schematic of the yeast precursor rRNAs and the binding site of the probes used in A. Probes used to detect 18S, 25S, 5.8S, 5S, and scR1 bind to an internal region within the sequence of the mature RNA. (C) Quantification of the ratio of 7S precursor rRNA to mature 5S rRNA for data shown in A. (D) Quantification of 18S, 25S, and 5.8S mature rRNA levels relative to 5S rRNA, and the ratio of 25S to 18S, in the RNA exosomopathy mutant yeast models compared to wild-type control cells for three biological replicates shown in A.