School of Biological Sciences, UM-DAE Centre for Excellence in Basic Sciences, Kalina Campus, Santacruz (E), Mumbai 400098, India.
J Biosci. 2023;48(1). doi: 10.1007/s12038-023-00326-6.
The past few decades have seen a rise in research on vertebrate cilia and ciliopathy, with interesting collaborations between basic and clinical scientists. This work includes studies on ciliary architecture, composition, evolution, and organelle generation and its biological role. The human body has cells that harbour any of the following four types of cilia: 9+0 motile, 9+0 immotile, 9+2 motile, and 9+2 immotile. Depending on the type, cilia play an important role in cell/fluid movement, mating, sensory perception, and development. Defects in cilia are associated with a wide range of human diseases afflicting the brain, heart, kidneys, respiratory tract, and reproductive system. These are commonly known as ciliopathies and affect millions of people worldwide. Due to their complex genetic etiology, diagnosis and therapy have remained elusive. Although model organisms like have been a useful source for ciliary research, reports of a fascinating and rewarding translation of this research into mammalian systems, especially humans, are seen. The current review peeks into one of the complex features of this organelle, namely its birth, the common denominators across the formation of both 9+0 and 9+2 ciliary types, the molecules involved in ciliogenesis, and the steps that go towards regulating their assembly and disassembly.
在过去的几十年中,脊椎动物纤毛和纤毛病的研究有所增加,基础科学家和临床科学家之间进行了有趣的合作。这项工作包括对纤毛结构、组成、进化、细胞器生成及其生物学功能的研究。人体细胞有以下四种类型的纤毛:9+0 运动型、9+0 非运动型、9+2 运动型和 9+2 非运动型。根据类型的不同,纤毛在细胞/液体运动、交配、感觉感知和发育中发挥着重要作用。纤毛病与影响大脑、心脏、肾脏、呼吸道和生殖系统的广泛人类疾病有关。这些疾病通常被称为纤毛病,影响着全球数百万人。由于其复杂的遗传病因,诊断和治疗仍然难以捉摸。尽管像 这样的模式生物是纤毛研究的有用来源,但将这项研究转化为哺乳动物系统,特别是人类的引人入胜和富有成效的报道却很少见。目前的综述探讨了这个细胞器的一个复杂特征,即它的起源,形成 9+0 和 9+2 纤毛类型的共同特征,参与纤毛发生的分子以及调节它们组装和拆卸的步骤。