Fig. 3
From: De novo and biallelic DEAF1 variants cause a phenotypic spectrum
Effect of DEAF1 variants on transcriptional activity. a, b DEAF1 promoter activity after transfection of HEK293t cells with wild-type (WT) or the indicated variants. a Compared with WT, all de novo variants resulted in loss of transcriptional repression activity at the DEAF1 promoter. b Heritable biallelic variants had no effect on DEAF1 promoter transcriptional repression, except for p.(Trp234*). c, d Eif4g3 promoter activity after transfection of HEK293t cells with WT or the indicated variants. (c) All de novo variants, except p.(Pro293Leu) and p.(Ser236Gly), resulted in suppression of transcription relative to WT transactivation. No change from basal promoter activity (pcDNA3) was detected for p.(Ser236Gly) and increased promoter activity was observed for p.(Pro293Leu). d Heritable biallelic variants had no effect on Eif4g3 promoter activation compared with WT. Each bar represents the mean +/− SEM of the normalized luciferase activity of three independent experiments when the activity of pcDNA3 (DEAF1 promoter alone) was set to 100% (N = 5–7 de novo variants with N = 14–15 WT, N = 4–5 heritable variants with N = 10–12 WT). **p < 0.01 One-way analysis of variance (ANOVA) with Dunnett’s multiple comparison WT DEAF1 versus each mutant.
