Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710.
Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242.
Proc Natl Acad Sci U S A. 2024 Aug 20;121(34):e2408551121. doi: 10.1073/pnas.2408551121. Epub 2024 Aug 15.
The first steps of vision take place in the ciliary outer segment compartment of photoreceptor cells. The protein composition of outer segments is uniquely suited to perform this function. The most abundant among these proteins is the visual pigment, rhodopsin, whose outer segment trafficking involves intraflagellar transport (IFT). Here, we report three major findings from the analysis of mice in which ciliary transport was acutely impaired by conditional knockouts of IFT-B subunits. First, we demonstrate the existence of a sorting mechanism whereby mislocalized rhodopsin is recruited to and concentrated in extracellular vesicles prior to their release, presumably to protect the cell from adverse effects of protein mislocalization. Second, reducing rhodopsin expression significantly delays photoreceptor degeneration caused by IFT disruption, suggesting that controlling rhodopsin levels may be an effective therapy for some cases of retinal degenerative disease. Last, the loss of IFT-B subunits does not recapitulate a phenotype observed in mutants of the BBSome (another ciliary transport protein complex relying on IFT) in which non-ciliary proteins accumulate in the outer segment. Whereas it is widely thought that the role of the BBSome is to primarily participate in ciliary transport, our data suggest that the BBSome has another major function independent of IFT and possibly related to maintaining the diffusion barrier of the ciliary transition zone.
视觉的第一步发生在光感受器细胞的纤毛外节隔室中。外节的蛋白质组成是专门设计用来执行这一功能的。这些蛋白质中最丰富的是视觉色素视紫红质,其外节运输涉及鞭毛内运输(IFT)。在这里,我们报告了通过条件性敲除 IFT-B 亚基急性损害纤毛运输的小鼠分析中的三个主要发现。首先,我们证明了存在一种分选机制,通过该机制,错误定位的视紫红质被募集并浓缩在细胞外囊泡中,然后再释放它们,可能是为了保护细胞免受蛋白质错误定位的不利影响。其次,降低视紫红质的表达显著延迟了 IFT 破坏引起的光感受器变性,这表明控制视紫红质水平可能是治疗某些视网膜退行性疾病的有效方法。最后,IFT-B 亚基的缺失并不能重现 BBSome(另一种依赖 IFT 的纤毛运输蛋白复合物)突变体中观察到的表型,其中非纤毛蛋白在外节中积累。尽管人们普遍认为 BBSome 的作用主要是参与纤毛运输,但我们的数据表明,BBSome 具有另一个独立于 IFT 的主要功能,可能与维持纤毛过渡区的扩散屏障有关。