PDF(Pubmed)
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，光子被称为外段的高度专业化的感觉纤毛检测到。光感受器外部片段通过将初级纤毛的膜重塑为一堆扁平的圆盘而形成。骨内运输（IFT）对于大多数类型的真核纤毛（包括外节）的形成至关重要。这篇综述涵盖了IFT在外段形成和维持中的作用以及由编码IFT复合物和相关电机的基因突变引起的人类疾病的知识状态。
