Abstract：
Primary cilia are antenna-like sensory organelles that are evolutionarily conserved in nearly all modern eukaryotes, from the single-celled green alga, Chlamydomonas reinhardtii, to vertebrates and mammals. Cilia are microtubule-based cellular projections that have adapted to perform a broad range of species-specific functions, from cell motility to detection of light and the transduction of extracellular mechanical and chemical signals. These functions render cilia essential for organismal development and survival. The high conservation of cilia has allowed for discoveries in C. reinhardtii to inform our understanding of the basic biology of mammalian primary cilia, and to provide insight into the genetic etiology of ciliopathies. Over the last two decades, a growing number of studies has revealed that multiple aspects of ciliary homeostasis are regulated by the actin cytoskeleton, including centrosome migration and positioning, vesicle transport to the basal body, ectocytosis, and ciliary-mediated signaling. Here, we review actin regulation of ciliary homeostasis, and highlight conserved and divergent mechanisms in C. reinhardtii and mammalian cells. Further, we compare the disease manifestations of patients with ciliopathies to those with mutations in actin and actin-associated genes, and propose that primary cilia defects caused by genetic alteration of the actin cytoskeleton may underlie certain birth defects.
摘要：
初级纤毛是触角状的感觉细胞器，在几乎所有现代真核生物中在进化上都是保守的，来自单细胞绿藻，莱茵衣藻,脊椎动物和哺乳动物。纤毛是基于微管的细胞突起，已适应执行广泛的物种特异性功能，从细胞运动到检测光和细胞外机械和化学信号的转导。这些功能使纤毛对于生物体的发育和生存至关重要。纤毛的高度保守性允许在C.reinhardtii中发现，以告知我们对哺乳动物初级纤毛的基本生物学的理解，并提供对纤毛病的遗传病因的见解。在过去的二十年里，越来越多的研究表明，纤毛体内平衡的多个方面受肌动蛋白细胞骨架的调节，包括中心体迁移和定位，囊泡运输到基体，胞吞增多,和纤毛介导的信号传导。这里,我们回顾肌动蛋白对纤毛稳态的调节，并强调了莱茵衣原体和哺乳动物细胞中保守和不同的机制。Further,我们将纤毛病患者的疾病表现与肌动蛋白和肌动蛋白相关基因突变的患者进行比较，并提出由肌动蛋白细胞骨架的遗传改变引起的原发性纤毛缺陷可能是某些出生缺陷的基础。
