Huang Liwei, Lipschutz Joshua H
Department of Medicine, Eastern Virginia Medical School, Norfolk, Virginia.
Birth Defects Res C Embryo Today. 2014 Jun;102(2):174-85. doi: 10.1002/bdrc.21066. Epub 2014 Jun 5.
In the past decade, cilia have been found to play important roles in renal cystogenesis. Many genes, such as PKD1 and PKD2 which, when mutated, cause autosomal dominant polycystic kidney disease (ADPKD), have been found to localize to primary cilia. The cilium functions as a sensor to transmit extracellular signals into the cell. Abnormal cilia structure and function are associated with the development of polyscystic kidney disease (PKD). Cilia assembly includes centriole migration to the apical surface of the cell, ciliary vesicle docking and fusion with the cell membrane at the intended site of cilium outgrowth, and microtubule growth from the basal body. This review summarizes the most recent advances in cilia and PKD research, with special emphasis on the mechanisms of cytoplasmic and intraciliary protein transport during ciliogenesis.
在过去十年中，人们发现纤毛在肾囊肿形成过程中发挥着重要作用。许多基因，如PKD1和PKD2，发生突变时会导致常染色体显性多囊肾病（ADPKD），已被发现定位于初级纤毛。纤毛作为一种传感器，将细胞外信号传递到细胞内。异常的纤毛结构和功能与多囊肾病（PKD）的发生发展有关。纤毛组装包括中心粒向细胞顶端表面迁移、纤毛小泡在纤毛生长的预定部位对接并与细胞膜融合，以及微管从基体生长。本综述总结了纤毛与PKD研究的最新进展，特别强调了纤毛发生过程中细胞质和纤毛内蛋白质运输的机制。
