Figure 4 | Scientific Reports

Figure 4

From: A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome

Figure 4

RLIM p.(Tyr421Cys) is functionally impaired in an assay for Xist lncRNA induction. (a) Human RLIM wild-type (WT), Y421C TOKAS variant or W600Y catalytically-inactive variant were expressed at increasing amounts (50–500 ng plasmid DNA) in Rlim+/y mESCs. Xist lncRNA expression was determined by qRT-PCR and normalised to Gapdh mRNA expression. Data are represented as mean ± standard error of the mean (n = 3). Statistical significance was determined by one-way ANOVA. Figure was generated using Graphpad Prism v8.0 (https://www.graphpad.com/scientific-software/prism/). (b) Human RLIM wild-type (WT) or W600Y catalytically-inactive variant were expressed at increasing amounts (50–500 ng plasmid DNA) in Rlim-/y mESCs. The RLIM Y421C TOKAS variant was expressed only at the maximum amount of plasmid DNA (500 ng) to enable comparison with similar levels of RLIM WT or Y421C expressed at lower amounts of plasmid DNA. RLIM expression was determined by immunoblotting and ERK1/2 expression analysed as a loading control.

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