Biozentrum, University of Basel, Klingelbergstrasse 50/70, CH-4056 Basel, Switzerland.
Biozentrum, University of Basel, Klingelbergstrasse 50/70, CH-4056 Basel, Switzerland.
FEBS Lett. 2014 Aug 1;588(15):2366-72. doi: 10.1016/j.febslet.2014.06.030. Epub 2014 Jun 18.
Centrioles function in the assembly of centrosomes and cilia. Structural and numerical centrosome aberrations have long been implicated in cancer, and more recent genetic evidence directly links centrosomal proteins to the etiology of ciliopathies, dwarfism and microcephaly. To better understand these disease connections, it will be important to elucidate the biogenesis of centrioles as well as the controls that govern centriole duplication during the cell cycle. Moreover, it remains to be fully understood how these organelles organize a variety of dynamic microtubule-based structures in response to different physiological conditions. In proliferating cells, centrosomes are crucial for the assembly of microtubule arrays, including mitotic spindles, whereas in quiescent cells centrioles function as basal bodies in the formation of ciliary axonemes. In this short review, we briefly introduce the key gene products required for centriole duplication. Then we discuss recent findings on the centriole duplication factor STIL that point to centrosome amplification as a potential root cause for primary microcephaly in humans. We also present recent data on the role of a disease-related centriole-associated protein complex, Cep164-TTBK2, in ciliogenesis.
中心体在中心体和纤毛的组装中发挥作用。结构和数量上的中心体异常长期以来一直与癌症有关,最近的遗传证据直接将中心体蛋白与纤毛病、 dwarfism 和小头畸形的病因联系起来。为了更好地理解这些疾病之间的联系,阐明中心体的生物发生以及在细胞周期中控制中心体复制的机制将非常重要。此外,仍需要充分了解这些细胞器如何在不同的生理条件下组织各种动态的基于微管的结构。在增殖细胞中,中心体对于微管阵列的组装至关重要,包括有丝分裂纺锤体,而在静止细胞中,中心体作为纤毛轴丝形成的基底体发挥作用。在这篇简短的综述中,我们简要介绍了中心体复制所需的关键基因产物。然后,我们讨论了最近关于中心体复制因子 STIL 的发现,该发现指出中心体扩增可能是人类原发性小头畸形的潜在根本原因。我们还介绍了最近关于与疾病相关的中心体相关蛋白复合物 Cep164-TTBK2 在纤毛发生中的作用的数据。