Charron A J, Nakamura S, Bacallao R, Wandinger-Ness A
Integrated Graduate Program in the Life Sciences, Northwestern University Medical School, Chicago, Illinois 60611, USA.
J Cell Biol. 2000 Apr 3;149(1):111-24. doi: 10.1083/jcb.149.1.111.
Cystogenesis associated with autosomal dominant polycystic kidney disease (ADPKD) is characterized by perturbations in the polarized phenotype and function of cyst-lining epithelial cells. The polycystins, the protein products of the genes mutated in the majority of ADPKD cases, have been described recently, but the pathological mechanism by which causal mutations result in the mislocalization of cell membrane proteins has remained unclear. This report documents the dissociation from the ADPKD cell basolateral membrane of three molecules essential for spatial organization and exocytosis. The adherens junction protein E-cadherin, the subcellular disposition of which governs intercellular and intracellular architecture, was discovered sequestered in an internal ADPKD cell compartment. At the same time, sec6 and sec8, components of a complex critical for basolateral cargo delivery normally arrayed at the apico-lateral apex, were depleted from the ADPKD cell plasma membrane. An analysis of membrane transport revealed that basolateral trafficking of proteins and lipids was impaired as a result of delayed cargo exit from the ADPKD cell Golgi apparatus. Apical transport proceeded normally. Taken together with recent documentation of an association between polycystin-1 and E-cadherin (Huan and van Adelsberg 1999), the data suggest that causal mutations disrupt E-cadherin-dependent cytoarchitecture, adversely affecting protein assemblies crucial for basolateral trafficking.
与常染色体显性多囊肾病(ADPKD)相关的囊肿形成的特征是囊肿内衬上皮细胞的极化表型和功能受到干扰。多囊蛋白是大多数ADPKD病例中发生突变的基因的蛋白质产物,最近已有相关描述,但导致突变致使细胞膜蛋白定位错误的病理机制仍不清楚。本报告记录了对空间组织和胞吐作用至关重要的三种分子与ADPKD细胞基底外侧膜的解离。黏附连接蛋白E-钙黏蛋白,其亚细胞定位决定细胞间和细胞内结构,被发现隔离在ADPKD细胞内部隔室中。与此同时,sec6和sec8,通常排列在顶-外侧顶端、对基底外侧货物运输至关重要的复合物的组成部分,从ADPKD细胞质膜中耗尽。膜运输分析表明,由于货物从ADPKD细胞高尔基体延迟排出,蛋白质和脂质的基底外侧运输受损。顶端运输正常进行。结合最近关于多囊蛋白-1与E-钙黏蛋白之间关联的文献(Huan和van Adelsberg,1999年),这些数据表明,致病突变破坏了E-钙黏蛋白依赖性细胞结构,对基底外侧运输至关重要的蛋白质组装产生不利影响。