Human basal body basics.

Q2 Biochemistry, Genetics and Molecular Biology Cilia Pub Date : 2016-03-14 eCollection Date: 2016-01-01 DOI:10.1186/s13630-016-0030-8
Anastassiia Vertii, Hui-Fang Hung, Heidi Hehnly, Stephen Doxsey
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Abstract

In human cells, the basal body (BB) core comprises a ninefold microtubule-triplet cylindrical structure. Distal and subdistal appendages are located at the distal end of BB, where they play indispensable roles in cilium formation and function. Most cells that arrest in the G0 stage of the cell cycle initiate BB docking at the plasma membrane followed by BB-mediated growth of a solitary primary cilium, a structure required for sensing the extracellular environment and cell signaling. In addition to the primary cilium, motile cilia are present in specialized cells, such as sperm and airway epithelium. Mutations that affect BB function result in cilia dysfunction. This can generate syndromic disorders, collectively called ciliopathies, for which there are no effective treatments. In this review, we focus on the features and functions of BBs and centrosomes in Homo sapiens.

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人体基础知识。
在人体细胞中,基质体(BB)核心由九重微管三联体圆柱结构组成。远端和亚远端附属物位于基质体的远端,它们在纤毛形成和功能中发挥着不可或缺的作用。大多数停滞在细胞周期 G0 阶段的细胞在质膜上对接 BB 后,由 BB 介导的单生初级纤毛的生长。除了初级纤毛外,精子和气道上皮细胞等特化细胞中也存在运动纤毛。影响 BB 功能的突变会导致纤毛功能障碍。这可能导致综合症,统称为纤毛疾病,目前尚无有效的治疗方法。在这篇综述中,我们将重点讨论智人中 BB 和中心体的特征和功能。
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来源期刊
Cilia
Cilia Biochemistry, Genetics and Molecular Biology-Cell Biology
CiteScore
6.40
自引率
0.00%
发文量
0
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