Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, 55905, USA.
Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, 55905, USA.
Nat Commun. 2018 Aug 17;9(1):3310. doi: 10.1038/s41467-018-05867-1.
Tubulin polyglutamylation is a predominant axonemal post-translational modification. However, if and how axoneme polyglutamylation is essential for primary cilia and contribute to ciliopathies are unknown. Here, we report that Joubert syndrome protein ARL13B controls axoneme polyglutamylation, which is marginally required for cilia stability but essential for cilia signaling. ARL13B interacts with RAB11 effector FIP5 to promote cilia import of glutamylase TTLL5 and TTLL6. Hypoglutamylation caused by a deficient ARL13B-RAB11-FIP5 trafficking pathway shows no effect on ciliogenesis, but promotes cilia disassembly and, importantly, impairs cilia signaling by disrupting the proper anchoring of sensory receptors and trafficking of signaling molecules. Remarkably, depletion of deglutamylase CCP5, the predominant cilia deglutamylase, effectively restores hypoglutamylation-induced cilia defects. Our study reveals a paradigm that tubulin polyglutamylation is a major contributor for cilia signaling and suggests a potential therapeutic strategy by targeting polyglutamylation machinery to promote ciliary targeting of signaling machineries and correct signaling defects in ciliopathies.
微管多聚谷氨酸化是轴突的主要翻译后修饰。然而,轴突多聚谷氨酸化是否以及如何对初级纤毛至关重要,并导致纤毛病,目前尚不清楚。在这里,我们报告说,基底神经节综合征蛋白 ARL13B 控制着轴突多聚谷氨酸化,这对于纤毛稳定性来说是可有可无的,但对于纤毛信号传导却是必不可少的。ARL13B 与 RAB11 效应物 FIP5 相互作用,促进谷氨酸酶 TTLL5 和 TTLL6 向纤毛的导入。由 ARL13B-RAB11-FIP5 运输途径缺陷引起的低聚谷氨酸化对纤毛发生没有影响,但会促进纤毛解体,更重要的是,通过破坏感觉受体的正确锚定和信号分子的运输,损害纤毛信号。值得注意的是,去谷氨酸酶 CCP5(主要的纤毛去谷氨酸酶)的消耗有效地恢复了低聚谷氨酸化诱导的纤毛缺陷。我们的研究揭示了一个范例,即微管多聚谷氨酸化是纤毛信号的主要贡献者,并提出了一种潜在的治疗策略,即通过靶向多聚谷氨酸化机制来促进信号机制向纤毛的靶向,并纠正纤毛病中的信号缺陷。