Fig. 2: SETBP1 variants outside the degron show increased protein abundance but do not affect SET binding or pPP2A/PP2A ratio in patient fibroblasts. | Nature Communications

Fig. 2: SETBP1 variants outside the degron show increased protein abundance but do not affect SET binding or pPP2A/PP2A ratio in patient fibroblasts.

From: SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder

Fig. 2

a Immunoblot of whole cell lysates of control and patient human dermal fibroblasts (HDF) probed with anti-SETBP1, anti-SET, anti-pPP2A (T307) and anti-PP2A antibodies. β-actin was used as a loading control. b Quantification of protein levels of SETBP1 variants normalised to β-actin (right). Bars represent the mean ± SEM of three independent experiments (vs controls, one-way ANOVA and a post-hoc Dunnett’s test). c Immunoblot of whole cell lysates of HEK293T/17 cells expressing FLAG-tagged SETBP1 variants probed with anti-SETBP1 and anti-FLAG antibodies. β-actin was used as a loading control (left). Representative blots of three independent experiments are shown. d Quantification of protein levels of FLAG-tagged SETBP1 variants normalised to β-actin (right). Values are expressed relative to wild type (WT) and represent the mean ± SEM of three independent experiments (*p < 0.05, **p < 0.01, ***p < 0.001, using one-way ANOVA and a post-hoc Dunnett’s test). e Normalised SET transcript expression (bottom) in control and patient HDFs. Bars represent the mean ± SEM of three independent experiments (vs controls, one-way ANOVA and a post-hoc Dunnett’s test). f Quantification of pPP2A/PP2A ratio. Bars represent the mean ± SEM of three independent experiments (vs controls, one-way ANOVA and a post-hoc Dunnett’s test). Source data are provided as a Source Data file. All details of statistical tests and p-values are provided in Source Data 4.

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