Figure 5: Primary cilia are variable in length and longer in DYNC2LI1-mutant cells.
From: Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
(a) Immunofluorescence micrographs of serum-starved control and SRPS fibroblasts stained for ARL13B (green), GluTUB (red) and Hoescht (blue) show variable length and hyperelongated cilia in SRPS cells. (b) Percentage of ciliated cells in (a) (n=150 × 3 independent experiments). (c) Primary cilia length is highly variable in cells with DYNC2LI1 mutations (n>20 × 3 independent experiments). (d) Expression of untagged wild-type DYNC2LI1 through an IRES-GFP vector (artificially coloured blue) rescues cilia length variability in SRPS cells. Error bars represent±s.e.m. Statistical analyses performed using Mann–Whitney test, *P<0.05. Scale bar, 5 μm.
