光感受器盘形态发生:谁是这个高度有节律过程的指挥者?

Photoreceptor Disc Morphogenesis: Who Are the Conductors of This Highly Metronomic Process?

作者信息

Megaw Roly

机构信息

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

Princess Alexandra Eye Pavilion, NHS Lothian, Edinburgh, UK.

出版信息

Adv Exp Med Biol. 2025;1468:305-308. doi: 10.1007/978-3-031-76550-6_50.

Abstract

To ensure that normal vision is maintained, the photoreceptor must continually renew its outer segment, a massive expanse of ciliary membrane extending from the tip of its connecting cilium. The outer segment is organised into hundreds of flattened discs, the formation of which is highly regulated. Disc morphogenesis requires the metronomic assembly of an actin cytoskeletal network to initiate the necessary membrane deformation and subsequent network disassembly to allow disc completion. Disruption of disc turnover, due to human mutations, results in an inherited retinal dystrophy (IRD), a leading cause of visual loss in children and working adults. This chapter will describe the structural evidence that disc formation is actin-driven and discuss what is known of the molecular mechanisms that govern the process.

摘要

为确保维持正常视力,光感受器必须不断更新其外段,外段是从其连接纤毛尖端延伸出的一大片睫状膜。外段由数百个扁平的圆盘状结构组成,其形成受到高度调控。圆盘状结构的形态发生需要肌动蛋白细胞骨架网络有节奏地组装,以引发必要的膜变形,随后网络解体以完成圆盘状结构的形成。由于人类基因突变导致圆盘状结构更新中断,会引发遗传性视网膜营养不良(IRD),这是儿童和在职成年人视力丧失的主要原因。本章将描述圆盘状结构形成由肌动蛋白驱动的结构证据,并讨论已知的调控该过程的分子机制。

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