Fig. 4: Genotype-specific reduction of binding capacity to AT-rich DNA sequences and transcriptional activation for SETBP1 variants outside the degron. | Nature Communications

Fig. 4: Genotype-specific reduction of binding capacity to AT-rich DNA sequences and transcriptional activation for SETBP1 variants outside the degron.

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

Fig. 4

a Results of luciferase assays with constructs containing WT and SETBP1 variants, and the reporter constructs with the consensus SETBP1 binding sequences. Values are expressed relative to the control condition, which used a pCMV-YFP construct without SETBP1. b Results of the M1H assay for SETBP1 transcriptional regulatory activity with WT and SETBP1 variants fused with an N-terminal GAL4 in combination with a reporter construct with or without the GAL4-binding site. Values are expressed relative to the control condition, which used a pBIND2-GAL4 construct without SETBP1. c) Results of luciferase assays with constructs containing WT and SETBP1 variants, and reporter constructs with FOXP2 promoters: TSS1 (left) and TSS2 (right). Values are expressed relative to the control condition, which used a pCMV-YFP construct without SETBP1. All graphs for luciferase assays show the mean ± SEM of three independent experiments, each performed in triplicate (*p < 0.05, **p < 0.01, ***p < 0.001, ****p < 0.0001 vs WT; one-way ANOVA and a post-hoc Dunnett’s test). All graphs for the mammalian-one-hybrid assay show the mean ± SEM of three independent experiments, each performed in triplicate (*p < 0.05, ***p < 0.001, ****p < 0.0001 vs reporter without GAL4-binding site; #p < 0.05, ###p < 0.001, ####p < 0.0001 vs WT; two-way ANOVA and a post-hoc Tukey’s test). Details of statistical tests and p-values are provided in Source Data 5. Source data are provided as a Source Data file.

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