Identification of renal transportsomes by analyzing disease-causing mutants of transporters and their regulators.

本研究的目的是通过研究AQP水通道、ClC氯通道和Na-Cl协转运蛋白(NCC)基因的自然突变来鉴定这些基因的重要功能复合体。我们发现原肌球蛋白5b与磷酸化水通道蛋白2的结合是水通道蛋白2‘S被加压素顶端分离所必需的。我们还在肾脏中发现了一个新的磷酸化级联蛋白(WNK-OSR1/SPAK-NCC)，它对血压调节具有重要作用。

The aim of this study was to identify functionally important proteincomplexes regulating AQP water channels, CLC chloride channels and Na-Cl cotransporter(NCC), by focusing on the naturally occurring mutations of these genes. We found that thebinding of tropomyosin 5b to phosphorylated AQP2 was necessary for AQP2's apical sortingby vasopressin. We also found a novel phosphorylation cascade (WNK-OSR1/SPAK-NCC)in the kidney that is important for blood pressure regulation.