Telethon Institute of Genetics and Medicine, Via Pietro Castellino, Naples, Italy.
Pediatr Nephrol. 2011 May;26(5):655-62. doi: 10.1007/s00467-010-1650-7. Epub 2010 Oct 3.
Primary cilia are specialized organelles consisting of an axoneme anchored to the plasma membrane through the basal body consisting of two centrioles. They protrude from the cell surface of almost all mammalian cells. Mutations in genes encoding for ciliary proteins cause ciliopathies, which are characterized by a wide spectrum of phenotypes, including polycystic kidney, hepatic disease, malformations in the central nervous system, skeletal defects, retinal degeneration, and obesity. Both clinical studies and animal models have revealed that during embryogenesis, primary cilium play an essential role in defining the correct patterning of the body. In this study, we focused our attention on the tissues mainly affected in ciliopathies, such as the kidney, liver, and central nervous system. Emerging studies reveal that the primary cilium may play similar roles, leading to distinct functions according to the different cell type and developmental stages. The state of the art in primary cilia studies reveals a very complex role. The aim of this review is to evaluate the recent advances in the function of primary cilia in different tissues, underlining similarities and differences.
原发性纤毛是一种特殊的细胞器，由轴丝通过由两个中心粒组成的基体锚定在质膜上。它们从几乎所有哺乳动物细胞的细胞表面伸出。编码纤毛蛋白的基因突变会导致纤毛病，其特征是表型广泛，包括多囊肾病、肝疾病、中枢神经系统畸形、骨骼缺陷、视网膜变性和肥胖症。临床研究和动物模型都表明，在胚胎发生过程中，初级纤毛在确定身体的正确模式方面起着至关重要的作用。在这项研究中，我们将注意力集中在纤毛病主要受影响的组织上，如肾脏、肝脏和中枢神经系统。新兴的研究表明，初级纤毛可能发挥类似的作用，根据不同的细胞类型和发育阶段产生不同的功能。目前的初级纤毛研究揭示了一个非常复杂的角色。本文的目的是评估初级纤毛在不同组织中的功能的最新进展，强调其相似性和差异性。
