1] Division of Genetics and Cell Biology, Dulbecco Telethon Institute (DTI) at Dibit, San Raffaele Scientific Institute, Via Olgettina, 58, 20132 Milan, Italy [2] Ph.D. Program in Molecular and Cellular Biology, Vita-Salute San Raffaele University, Via Olgettina, 58, 20132 Milan, Italy.
Nat Commun. 2013;4:2658. doi: 10.1038/ncomms3658.
Several organs, including the lungs and kidneys, are formed by epithelial tubes whose proper morphogenesis ensures correct function. This is best exemplified by the kidney, where defective establishment or maintenance of tubular diameter results in polycystic kidney disease, a common genetic disorder. Most polycystic kidney disease cases result from loss-of-function mutations in the PKD1 gene, encoding Polycystin-1, a large receptor of unknown function. Here we demonstrate that PC-1 has an essential role in the establishment of correct tubular diameter during nephron development. Polycystin-1 associates with Par3 favouring the assembly of a pro-polarizing Par3/aPKC complex and it regulates a programme of cell polarity important for oriented cell migration and for a convergent extension-like process during tubular morphogenesis. Par3 inactivation in the developing kidney results in defective convergent extension and tubular morphogenesis, and in renal cyst formation. Our data define Polycystin-1 as central to cell polarization and to epithelial tube morphogenesis and homeostasis.
几个器官,包括肺和肾脏,是由上皮管形成的,其适当的形态发生确保了正确的功能。肾脏就是最好的例子,其管状直径的建立或维持的缺陷会导致多囊肾病,这是一种常见的遗传疾病。大多数多囊肾病病例是由于编码多囊蛋白-1(一种未知功能的大型受体)的 PKD1 基因突变所致。在这里,我们证明 PC-1 在肾单位发育过程中建立正确的管状直径方面具有重要作用。多囊蛋白-1与 Par3 结合,有利于形成有利于极性的 Par3/aPKC 复合物,它调节细胞极性的程序对于细胞定向迁移和管状形态发生中的收敛延伸样过程很重要。在发育中的肾脏中 Par3 的失活会导致收敛延伸和管状形态发生的缺陷,并导致肾囊肿的形成。我们的数据将多囊蛋白-1定义为细胞极化和上皮管形态发生和动态平衡的核心。