Department of Internal Medicine and Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Proc Natl Acad Sci U S A. 2011 Jun 28;108(26):10679-84. doi: 10.1073/pnas.1016214108. Epub 2011 Jun 13.
Polycystic kidney disease (PKD) is a genetic disorder that is characterized by cyst formation in kidney tubules. PKD arises from abnormalities of the primary cilium, a sensory organelle located on the cell surface. Here, we show that the primary cilium of renal epithelial cells contains a protein complex comprising adenylyl cyclase 5/6 (AC5/6), A-kinase anchoring protein 150 (AKAP150), and protein kinase A. Loss of primary cilia caused by deletion of Kif3a results in activation of AC5 and increased cAMP levels. Polycystin-2 (PC2), a ciliary calcium channel that is mutated in human PKD, interacts with AC5/6 through its C terminus. Deletion of PC2 increases cAMP levels, which can be corrected by reexpression of wild-type PC2 but not by a mutant lacking calcium channel activity. Phosphodiesterase 4C (PDE4C), which catabolizes cAMP, is also located in renal primary cilia and interacts with the AKAP150 complex. Expression of PDE4C is regulated by the transcription factor hepatocyte nuclear factor-1β (HNF-1β), mutations of which produce kidney cysts. PDE4C is down-regulated and cAMP levels are increased in HNF-1β mutant kidney cells and mice. Collectively, these findings identify PC2 and PDE4C as unique components of an AKAP complex in primary cilia and reveal a common mechanism for dysregulation of cAMP signaling in cystic kidney diseases arising from different gene mutations.
多囊肾病(PKD)是一种遗传性疾病,其特征是肾小管中形成囊肿。PKD 源于初级纤毛的异常,初级纤毛是位于细胞表面的感觉细胞器。在这里,我们表明肾上皮细胞的初级纤毛包含一个蛋白复合物,该复合物由腺苷酸环化酶 5/6(AC5/6)、蛋白激酶 A 锚定蛋白 150(AKAP150)和蛋白激酶 A 组成。Kif3a 缺失导致初级纤毛缺失,从而导致 AC5 的激活和 cAMP 水平的增加。多囊蛋白-2(PC2)是一种突变的人类 PKD 中的纤毛钙通道,通过其 C 端与 AC5/6 相互作用。PC2 的缺失增加了 cAMP 水平,这可以通过野生型 PC2 的重新表达来纠正,但不能通过缺乏钙通道活性的突变体来纠正。磷酸二酯酶 4C(PDE4C),它分解 cAMP,也位于肾脏初级纤毛中,并与 AKAP150 复合物相互作用。PDE4C 的表达受转录因子肝细胞核因子-1β(HNF-1β)调节,该因子的突变会产生肾脏囊肿。HNF-1β 突变的肾细胞和小鼠中 PDE4C 的表达下调,cAMP 水平升高。总之,这些发现确定了 PC2 和 PDE4C 作为初级纤毛中 AKAP 复合物的独特成分,并揭示了不同基因突变引起的囊性肾病中 cAMP 信号转导失调的共同机制。