Ishibashi Kenichi, Hara Shigeki, Kondo Shintaro
Department of Medical Physiology, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan.
Clin Exp Nephrol. 2009 Apr;13(2):107-117. doi: 10.1007/s10157-008-0118-6. Epub 2008 Dec 16.
Water channels, aquaporins (AQPs), are a family of small integral plasma membrane proteins that primarily transport water across the plasma membrane. There are 13 members (AQP0-12) in humans. This number is final as the human genome project has been completed. They are divided into three subgroups based on the primary sequences: water selective AQPs (AQP0, 1, 2, 4, 5, 6, 8), aquaglyceroporins (AQP3, 7, 9, 10), and superaquaporins (AQP11, 12). Since no specific inhibitors are yet available, functional roles of AQPs are suggested by AQP null mice and humans. Abnormal water metabolism was shown with AQP1, 2, 3, 4, 5 null mice, especially with AQP2 null mice: fatal at neonate due to diabetes insipidus. Abnormal glycerol transport was shown with AQP3, 7, 9 null mice, although they appeared normal. AQP0 null mice suffer from cataracts, although the pathogenesis is not clear. Unexpectedly, AQP11 null mice die from uremia as a result of polycystic kidneys. Interestingly, AQP6, 8, 10, 12 null mice are almost normal. AQP null humans have been reported with AQP0, 1, 2, 3, 7: only AQP2 null humans show an outstanding phenotype, diabetes insipidus. This review summarizes the current knowledge on all mammalian AQPs and hopefully will stimulate future research in both clinical and basic fields.
水通道,即水孔蛋白(AQP),是一类小的整合质膜蛋白家族,主要负责跨质膜转运水。人类中有13个成员(AQP0 - 12)。由于人类基因组计划已完成,这个数字是最终确定的。根据一级序列,它们被分为三个亚组:水选择性水孔蛋白(AQP0、1、2、4、5、6、8)、水甘油孔蛋白(AQP3、7、9、10)和超级水孔蛋白(AQP11、12)。由于目前尚无特异性抑制剂,水孔蛋白的功能作用通过水孔蛋白基因敲除小鼠和人类来推测。AQP1、2、3、4、5基因敲除小鼠表现出异常的水代谢,尤其是AQP2基因敲除小鼠:因尿崩症在新生儿期致死。AQP3、7、9基因敲除小鼠虽外观正常,但表现出异常的甘油转运。AQP0基因敲除小鼠患有白内障,但其发病机制尚不清楚。出乎意料的是,AQP11基因敲除小鼠因多囊肾死于尿毒症。有趣的是,AQP6、8、10、12基因敲除小鼠几乎正常。已报道了AQP0、1、2、3、7基因敲除的人类:只有AQP2基因敲除的人类表现出明显的表型,即尿崩症。本综述总结了目前关于所有哺乳动物水孔蛋白的知识,希望能激发临床和基础领域的未来研究。