Reiter Jeremy F, Leroux Michel R
Department of Biochemistry and Biophysics and Cardiovascular Research Institute, University of California, San Francisco, San Francisco CA 94158, USA.
Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada.
Nat Rev Mol Cell Biol. 2017 Sep;18(9):533-547. doi: 10.1038/nrm.2017.60. Epub 2017 Jul 12.
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The dysfunction of cilia causes diseases known as ciliopathies. The number of reported ciliopathies (currently 35) is increasing, as is the number of established (187) and candidate (241) ciliopathy-associated genes. The characterization of ciliopathy-associated proteins and phenotypes has improved our knowledge of ciliary functions. In particular, investigating ciliopathies has helped us to understand the molecular mechanisms by which the cilium-associated basal body functions in early ciliogenesis, as well as how the transition zone functions in ciliary gating, and how intraflagellar transport enables cargo trafficking and signalling. Both basic biological and clinical studies are uncovering novel ciliopathies and the ciliary proteins involved. The assignment of these proteins to different ciliary structures, processes and ciliopathy subclasses (first order and second order) provides insights into how this versatile organelle is built, compartmentalized and functions in diverse ways that are essential for human health.
运动性纤毛和非运动性（初级）纤毛几乎是普遍存在的细胞器。纤毛功能障碍会引发被称为纤毛病的疾病。已报道的纤毛病数量（目前为35种）在不断增加，与之相关的已确定基因（187个）和候选基因（241个）的数量也在增加。对纤毛病相关蛋白质和表型的表征增进了我们对纤毛功能的了解。特别是，对纤毛病的研究有助于我们理解纤毛相关基体在早期纤毛发生过程中的功能分子机制，以及过渡区在纤毛门控中的作用机制，还有鞭毛内运输如何实现货物运输和信号传导。基础生物学研究和临床研究都在揭示新的纤毛病以及涉及的纤毛蛋白。将这些蛋白质分配到不同的纤毛结构、过程和纤毛病亚类（一级和二级），有助于深入了解这个多功能细胞器是如何构建、分区以及以对人类健康至关重要的多种方式发挥功能的。
