CCDC151 Mutations Result in Defects of the Outer Dynein Arms
(A) Respiratory epithelial cells from control and PCD-affected individuals OP-675 and OP-1255 carrying CCDC151 mutations were double-labeled with antibodies directed against acetylated α-tubulin (green) and DNAH5 (red). Both proteins colocalize (yellow) along the cilia in cells from the unaffected control. In contrast, in CCDC151 mutant, DNAH5 is not detectable in the ciliary axonemes.
(B) Respiratory epithelial cells from control and PCD-affected individuals OP-675 and OP-1255 carrying CCDC151 mutations were double-labeled with antibodies directed against the N-DRC component GAS8 (green) and DNALI1 (red). Both proteins colocalize (yellow) along the cilia in cells from the unaffected control as well as both of the PCD-affected individuals. Scale bars represent 10 μm.
(C) Transmission electron micrographs of cross-sections through respiratory epithelial cell cilia show an absence of the outer dynein arms in PCD-affected individuals with CCDC151 mutations (right panels, blue box and arrow), compared to a control individual without PCD. In the healthy control, outer dynein arms (left panel, blue arrows) are visible. Scale bars represent 0.1 μm.