Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA.
Department of Biomedical Engineering, College of Engineering, University of Houston, Houston, TX, USA.
Adv Exp Med Biol. 2023;1415:277-281. doi: 10.1007/978-3-031-27681-1_40.
The light-sensitive outer segment organelle of photoreceptor cells contains a stack of hundreds of flat, disc-shaped membranes called discs. The rims of these discs contain a photoreceptor-specific tetraspanin protein peripherin-2 (also known as rds or PRPH2). Mutations in the PRPH2 gene lead to a wide variety of inherited retinal degenerations in humans. The vast majority of these mutations occur within a large, intradiscal loop of peripherin-2, known as the D2 loop. The D2 loop mediates well-established intermolecular interactions of peripherin-2 molecules among themselves and a homologous protein ROM1. These interactions lead to the formation of large, highly ordered oligomers. In this chapter, we discuss the supramolecular organization of peripherin-2/ROM1 complexes and their contribution to the process of outer segment disc morphogenesis and enclosure.
感光细胞的光敏感外节细胞器包含数百个扁平的盘状膜，称为盘。这些盘的边缘包含一种感光细胞特异性的四跨膜蛋白——周边蛋白-2（也称为 rds 或 PRPH2）。PRPH2 基因的突变会导致人类出现多种遗传性视网膜变性。这些突变绝大多数发生在周边蛋白-2 的一个大的、盘内环，即 D2 环内。D2 环介导了周边蛋白-2 分子之间以及同源蛋白 ROM1 之间的成熟的分子间相互作用。这些相互作用导致形成大的、高度有序的寡聚物。在本章中，我们讨论了周边蛋白-2/ROM1 复合物的超分子组织及其对外节盘状结构发生和包裹过程的贡献。
