C9

Cilia effects upon perturbation of C9

Cilia number / % ciliated:

Increased Cilia Number/Decreased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

increased circulating sodium level, increased startle reflex

Mouse ciliopathy phenotype:

increased heart weight

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• T cell biology

Function

The ependymal cells of the injected ventricle showed C9 deposits on the apical surface and cilia in the ependymal cells (27209022). Immunofluorescence staining showed that the average incidence of spontaneous primary ciliogenesis was significantly higher in both C9KO cells and S8KO cells than in WT cells (Fig. 1 A–D). Moreover, under serum-starvation conditions, the percentage of ciliated cells increased dramatically in C9KO cells and S8KO cells compared with WT cells (Fig. 1 A–D). We also measured the primary cilium length in cells cultured with or without serum. Both C9KO and S8KO cells exhibited primary cilia with an increased average length (Fig. 1 A–D). Consistently, overexpressing C9orf72 or SMCR8 inhibited primary ciliogenesis (SI Appendix, Fig. S2 A–D) (https://doi.org/10.1073/pnas.2220496120).