Fig 1: Expression analysis of the homozygous WDR11Q419* variant.a WDR11Q419* leads to loss of WDR11 protein in patient fibroblasts. Immunostaining of control (upper panel) and WDR11Q419* fibroblasts (lower panel) with antibodies against WDR11 (green; Abcam, ab93871) and the Golgi/TGN marker Golgin97 (red; Molecular Probes, A-21270). Control cells show strong juxtanuclear WDR11 staining, while WDR11Q419* fibroblasts only show weak and unspecific background labeling. Scale bar, 10 µm. b Quantification of WDR11 signal intensities. Small images to the right show exemplary cells of two different control (Ctrl 1, Ctrl 2) and WDR11Q419* fibroblasts stained with anti-WDR11 antibodies (ab93871, green) used for quantification. Nuclear counterstain: DAPI. Data represent mean ± SEM, n number of analyzed cells. ***P < 0.0001; One-way ANOVA, Bonferroni’s multiple comparisons test. Scale bar, 20 µm. RFU: relative fluorescence units. c Western blot analyses show WDR11 expression in 4 independent control fibroblasts (130 kDa) but complete absence in patient III-1 of family A (2 independent experiments). No truncated WDR11 protein fragments were evident in patient’s lysate (see also Supplementary Fig. 1). N-term N-Terminus, antibody recognizing epitope aa268–348, C-term C-terminus, antibody recognizing epitope aa1174–1224.
Supplier Page from Abcam for Anti-WDR11 antibody