Department of Ophthalmology, Duke University Medical Center, Durham, United States.
National Center for Microscopy and Imaging Research, School of Medicine, University of California, San Diego, La Jolla, United States.
Elife. 2023 Jul 14;12:e89160. doi: 10.7554/eLife.89160.
The first steps of vision take place within a stack of tightly packed disc-shaped membranes, or 'discs', located in the outer segment compartment of photoreceptor cells. In rod photoreceptors, discs are enclosed inside the outer segment and contain deep indentations in their rims called 'incisures'. The presence of incisures has been documented in a variety of species, yet their role remains elusive. In this study, we combined traditional electron microscopy with three-dimensional electron tomography to demonstrate that incisures are formed only after discs become completely enclosed. We also observed that, at the earliest stage of their formation, discs are not round as typically depicted but rather are highly irregular in shape and resemble expanding lamellipodia. Using genetically manipulated mice and frogs and measuring outer segment protein abundances by quantitative mass spectrometry, we further found that incisure size is determined by the molar ratio between peripherin-2, a disc rim protein critical for the process of disc enclosure, and rhodopsin, the major structural component of disc membranes. While a high perpherin-2 to rhodopsin ratio causes an increase in incisure size and structural complexity, a low ratio precludes incisure formation. Based on these data, we propose a model whereby normal rods express a modest excess of peripherin-2 over the amount required for complete disc enclosure in order to ensure that this important step of disc formation is accomplished. Once the disc is enclosed, the excess peripherin-2 incorporates into the rim to form an incisure.
视觉的第一步发生在一组紧密堆积的盘状膜(称为“盘”)中,这些膜位于光感受器细胞的外节隔室中。在杆状光感受器中,盘被封闭在外节内,其边缘有称为“切迹”的深凹陷。已经在各种物种中记录了切迹的存在,但它们的作用仍然难以捉摸。在这项研究中,我们将传统电子显微镜与三维电子断层扫描相结合,证明只有在盘完全封闭后才会形成切迹。我们还观察到,在形成的最早阶段,盘不是通常描绘的圆形,而是形状极不规则,类似于扩展的片状伪足。通过使用基因改造的小鼠和青蛙,并通过定量质谱法测量外节蛋白丰度,我们进一步发现切迹的大小取决于盘封闭过程中关键的盘缘蛋白 peripherin-2 与视紫红质(盘膜的主要结构成分)的摩尔比。虽然高 perpherin-2 与 rhodopsin 的比例会导致切迹大小和结构复杂性增加,但低比例会阻止切迹形成。基于这些数据,我们提出了一个模型,即正常的杆状细胞表达适量的peripherin-2 超过完全封闭盘所需的量,以确保盘形成的这一重要步骤得以完成。一旦盘被封闭,多余的 peripherin-2 就会整合到边缘形成切迹。