Fig. 3.

Tethered vesicular trafficking of TMEM138 and TMEM216 to primary cilia is required for ciliogenesis. (A) In patient fibroblasts under 48-hour serum starvation, TMEM138 p.A126T (MTI-656) mutations caused short cilia, and TMEM216 p.R73L mutations disrupt ciliogenesis (defined as having cilia <1 μm long).*P < 0.05, **P < 0.01 [versus wild type (WT) by one-way analysis of variance (ANOVA) with Bonferroni posttest, n = 40 to 50 cells]. Error bars indicate SEM. (B) In IMCD3 cells, high-resolution images of endogenous TMEM138/216 staining show that TMEM138 localized to ciliary axonemes and the base of cilia, whereas TMEM216 localized primarily to basal bodies. Both TMEMs also show closely adjacent vesicular patterns around the base of cilia (also see fig. S9C). Anti-Arl13b (cilia), anti-Glu/γ tubulin (cilia plus centrosome), polyclonal mouse anti-TMEM138 (fig. S9, A and B), and rabbit anti-TMEM216 antibodies were used. A, ciliary axoneme; T, transition zone; B, basal body. Scale bars, 5 μm.