Marshall Ryan A, Osborn Daniel P S
Cell Sciences and Genetics Research Centre, St George's University of London, London, SW17 0RE UK.
Cilia. 2016 May 10;5:16. doi: 10.1186/s13630-016-0036-2. eCollection 2016.
Understanding the role of basal bodies (BBs) during development and disease has been largely overshadowed by research into the function of the cilium. Although these two organelles are closely associated, they have specific roles to complete for successful cellular development. Appropriate development and function of the BB are fundamental for cilia function. Indeed, there are a growing number of human genetic diseases affecting ciliary development, known collectively as the ciliopathies. Accumulating evidence suggests that BBs establish cell polarity, direct ciliogenesis, and provide docking sites for proteins required within the ciliary axoneme. Major contributions to our knowledge of BB structure and function have been provided by studies in flagellated or ciliated unicellular eukaryotic organisms, specifically Tetrahymena and Chlamydomonas. Reproducing these and other findings in vertebrates has required animal in vivo models. Zebrafish have fast become one of the primary organisms of choice for modeling vertebrate functional genetics. Rapid ex-utero development, proficient egg laying, ease of genetic manipulation, and affordability make zebrafish an attractive vertebrate research tool. Furthermore, zebrafish share over 80 % of disease causing genes with humans. In this article, we discuss the merits of using zebrafish to study BB functional genetics, review current knowledge of zebrafish BB ultrastructure and mechanisms of function, and consider the outlook for future zebrafish-based BB studies.
在发育和疾病过程中，对基体（BBs）作用的理解在很大程度上被对纤毛功能的研究所掩盖。尽管这两种细胞器密切相关，但它们在细胞成功发育过程中有着特定的作用要完成。基体的正常发育和功能是纤毛功能的基础。事实上，越来越多影响纤毛发育的人类遗传疾病，统称为纤毛病。越来越多的证据表明，基体建立细胞极性、指导纤毛发生，并为纤毛轴丝内所需的蛋白质提供停靠位点。对基体结构和功能的认识主要来自对有鞭毛或有纤毛的单细胞真核生物的研究，特别是嗜热四膜虫和衣藻。要在脊椎动物中重现这些及其他发现，需要动物体内模型。斑马鱼迅速成为脊椎动物功能遗传学建模的主要选择生物之一。快速的子宫外发育、高产卵量、易于基因操作以及成本效益高，使斑马鱼成为一种有吸引力的脊椎动物研究工具。此外，斑马鱼与人类有超过80%的致病基因相同。在本文中，我们讨论了使用斑马鱼研究基体功能遗传学的优点，回顾了斑马鱼基体超微结构和功能机制的现有知识，并考虑了未来基于斑马鱼的基体研究的前景。
