1. Disease‐associated human WDR11 mutations are functionally defective
Disease‐associated human WDR11 mutations are functionally defective BMI curves of the index patient (filled circles) and his affected brother (open circles). The shaded area represents normal BMI for age (from grade 2 thinness to overweight).MR images of patients. Sagittal T1‐weighted image (right panel) of index patient demonstrates truncation of the pituitary stalk with slightly bright ectopic neurohypophysis (white arrowhead) and hypoplasia of the adenohypophysis. Image of his affected brother with same WDR11 mutation demonstrates ectopic neurohypophysis (white arrowhead) next to the normal pituitary stalk. Hypoplasia of the adenohypophysis is also seen. Coronal T2‐weighted images (left panel) of both patients demonstrate normal olfactory tracts (black arrows).Western blot of HEK293 cells transfected with WT or various mutants of WDR11 analysed by antibodies against GLI3 (for both FL and R form), Myc epitope (for WDR11) and β‐actin loading control, with the relative ratios of GLI3FL/GLI3R shown below (left panel). Band intensities of GLI3FL and GLI3R quantified by ImageJ were normalized to loading control and compared to the WT (right panel). Data are mean ± SEM from three independent experiments.Immunofluorescence images of HEK293 cells transfected with GFP‐tagged WT or mutant WDR11 constructs were analysed after leptomycin B (+) or solvent (−) treatment (representative images are shown in Appendix Fig S7C). The percentage of cells showing either nuclear or cytoplasmic localization of WDR11 is plotted. Data from four independent experiments, analysing 100–200 cells in each experiment, are presented as mean ± SEM with two‐way ANOVA followed by Tukey's post hoc test (****P < ). Source data are available online for this figure.
Yeon‐Joo Kim et al. EMBO Rep. 2018;19:
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