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. Author manuscript; available in PMC: 2021 Nov 1.
Published in final edited form as: Hum Mutat. 2020 Aug 30;41(11):1918–1930. doi: 10.1002/humu.24092

Figure 5.

Figure 5

RPS20 p.Ile84 missense variant LCLs have variably altered pre-rRNA processing. (A) Representative electropherograms from LCL total RNA. The 18S and 28S rRNA peaks are indicated, as well as a minor 32S pre-rRNA peak in the BMF16 sample. (B) Comparison of 28S/18S rRNA ratios as measured by electropherograms; similar symbols came from the same experiment. P values were not calculated for BMF92-S1 nor NCI-62–1 as fewer than three biological replicates were performed. Shown is the mean and standard error of the mean (sem). (C) Representative northern blot analysis of RNA isolated from the designated LCLs (listed below) using an ITS1 probe. (D) Quantification of 21S pre-rRNA/28S rRNA ratios from four independent blots as in C. (E) Quantification of 18S-E pre-rRNA/28S rRNA ratios from four independent blots as in C. (F) Quantification of 21S/18S-E pre-rRNA ratios from four independent blots as in C. LCLs tested: BMF92 and NCI-62–1: RPS20 missense variants; BMF16: RPL5 missense variant; BMF92-F: unaffected father of BMF92; BMF92-S1: unaffected sibling of BMF92; RQ4–115: healthy/unaffected control; BMF54 and BMF73: RPS19 missense variants.