纤毛内运输：在光感受器发育和视网膜退行性疾病发病机制中的关键参与者。
Intraflagellar transport: A critical player in photoreceptor development and the pathogenesis of retinal degenerative diseases.
机构信息
Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.
Morningside Graduate School of Biological Sciences, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.
出版信息
Cytoskeleton (Hoboken). 2024 Nov;81(11):556-568. doi: 10.1002/cm.21823. Epub 2023 Dec 23.
Abstract
In vertebrate vision, photons are detected by highly specialized sensory cilia called outer segments. Photoreceptor outer segments form by remodeling the membrane of a primary cilium into a stack of flattened disks. Intraflagellar transport (IFT) is critical to the formation of most types of eukaryotic cilia including the outer segments. This review covers the state of knowledge of the role of IFT in the formation and maintenance of outer segments and the human diseases that result from mutations in genes encoding the IFT complex and associated motors.
摘要
在脊椎动物的视觉中，光子是由高度专门化的感觉纤毛（称为外节段）检测到的。光感受器外节段是通过将初级纤毛的膜重塑为扁平盘的堆叠而形成的。鞭毛内运输（IFT）对于包括外节段在内的大多数类型的真核纤毛的形成至关重要。本综述涵盖了 IFT 在形成和维持外节段中的作用以及由编码 IFT 复合物和相关马达的基因突变引起的人类疾病的知识现状。
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