Department of Molecular Biosciences, University of Texas, Austin, United States.
Department of Pediatrics, Washington University School of Medicine, St Louis, United States.
Elife. 2018 Dec 18;7:e38497. doi: 10.7554/eLife.38497.
Motile ciliopathies are characterized by specific defects in cilia beating that result in chronic airway disease, subfertility, ectopic pregnancy, and hydrocephalus. While many patients harbor mutations in the dynein motors that drive cilia beating, the disease also results from mutations in so-called dynein axonemal assembly factors (DNAAFs) that act in the cytoplasm. The mechanisms of DNAAF action remain poorly defined. Here, we show that DNAAFs concentrate together with axonemal dyneins and chaperones into organelles that form specifically in multiciliated cells, which we term DynAPs, for dynein axonemal particles. These organelles display hallmarks of biomolecular condensates, and remarkably, DynAPs are enriched for the stress granule protein G3bp1, but not for other stress granule proteins or P-body proteins. Finally, we show that both the formation and the liquid-like behaviors of DynAPs are disrupted in a model of motile ciliopathy. These findings provide a unifying cell biological framework for a poorly understood class of human disease genes and add motile ciliopathy to the growing roster of human diseases associated with disrupted biological phase separation.
运动纤毛病的特征是纤毛摆动存在特定缺陷,导致慢性气道疾病、不孕、异位妊娠和脑积水。虽然许多患者携带有驱动纤毛摆动的动力蛋白马达的突变,但该疾病也源于所谓的动力蛋白轴丝组装因子(DNAAF)的突变,这些突变因子在细胞质中发挥作用。DNAAF 作用的机制仍未明确。在这里,我们表明,DNAAF 与轴丝动力蛋白和伴侣蛋白一起聚集到细胞器中,这些细胞器专门在多纤毛细胞中形成,我们将其称为 DynAPs,即动力蛋白轴丝颗粒。这些细胞器显示出生物分子凝聚物的特征,值得注意的是,DynAPs 富含应激颗粒蛋白 G3bp1,但不富含其他应激颗粒蛋白或 P 体蛋白。最后,我们表明,在运动纤毛病模型中,DynAPs 的形成和液态样行为都被破坏。这些发现为一类人类疾病基因提供了一个统一的细胞生物学框架,并将运动纤毛病添加到与生物相分离破坏相关的不断增加的人类疾病列表中。