Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate cell types, are essential for regulating signalling pathways during development and adult homeostasis. Mutations in genes affecting cilia cause an overlapping spectrum of >30 human diseases and syndromes, the ciliopathies. Given the immense structural and functional diversity of the mammalian cilia repertoire, there is a growing disconnect between patient genotype and associated phenotypes, with variable severity and expressivity characteristic of the ciliopathies as a group. Recent technological developments are rapidly advancing our understanding of the complex mechanisms that control biogenesis and function of primary cilia across a range of cell types and are starting to tackle this diversity. Here, we examine the structural and functional diversity of primary cilia, their dynamic regulation in different cellular and developmental contexts and their disruption in disease.

初级纤毛是从大多数脊椎动物细胞类型表面突出的类似天线的感觉细胞器，对于调节发育和成体体内平衡过程中的信号通路至关重要。影响纤毛的基因突变会导致超过 30 种人类疾病和综合征，即纤毛病。鉴于哺乳动物纤毛的巨大结构和功能多样性，患者基因型和相关表型之间的脱节越来越大，纤毛病作为一个群体的严重程度和表达特征各不相同。最近的技术发展正在迅速推进我们对控制多种细胞类型的初级纤毛的生物发生和功能的复杂机制的理解，并开始解决这种多样性。在这里，我们研究了初级纤毛的结构和功能多样性、它们在不同细胞和发育环境中的动态调节以及它们对疾病的破坏。