Polycystin-1 cleavage and the regulation of transcriptional pathways.
Polycystin-1 cleavage and the regulation of transcriptional pathways.
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Polycystin-1 裂解和转录途径的调节。
DOI：
10.1007/s00467-013-2548-y
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Caplan,MichaelJ
中科院分区：
文献类型：
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作者：
Merrick,David;Bertuccio,ClaudiaA;Chapin,HannahC;Lal,Mark;Chauvet,Veronique;Caplan,MichaelJ
常染色体显性多囊肾病（ADPKD）是终末期肾病最常见的遗传原因，影响大约1 / 1000的人。这种疾病的特点是在几十年的时间里发展成许多充满液体的大肾囊肿。这些囊肿压迫周围肾实质并损害其功能。两种基因的突变是导致ADPKD的原因。这两个基因的蛋白产物polycytin -1和polycytin -2定位于初级纤毛并参与多种信号通路。多囊蛋白-1经过多次蛋白水解裂解，产生具有生物活性的片段。最近的研究结果表明，多囊蛋白-1裂解片段的产生是必要的，足以解释至少部分亲本蛋白的生理功能，尽管肯定不是全部。
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of end-stage renal disease, affecting approximately 1 in 1,000 people. The disease is characterized by the development of numerous large fluid-filled renal cysts over the course of decades. These cysts compress the surrounding renal parenchyma and impair its function. Mutations in two genes are responsible for ADPKD. The protein products of both of these genes, polycystin-1 and polycystin-2, localize to the primary cilium and participate in a wide variety of signaling pathways. Polycystin-1 undergoes several proteolytic cleavages that produce fragments which manifest biological activities. Recent results suggest that the production of polycystin-1 cleavage fragments is necessary and sufficient to account for at least some, although certainly not all, of the physiological functions of the parent protein.