Aquaporin water channels in mammals
Aquaporin water channels in mammals
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DOI：
10.1007/s10157-008-0118-6
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发表时间：
2009-04-01
影响因子：
2.3
通讯作者：
Kondo, Shintaro
中科院分区：
文献类型：
--
作者：
Ishibashi, Kenichi;Hara, Shigeki;Kondo, Shintaro
水通道蛋白（aquaporins, AQPs）是一个小的完整质膜蛋白家族，主要负责在质膜上运输水。人类有13个成员（AQP0-12）。这个数字是最终的，因为人类基因组计划已经完成。根据主要序列将其分为三个亚群：水选择性AQPs (AQP0, 1,2,4,5,6,8)，水甘酯孔蛋白（AQP3, 7,9,10）和超水孔蛋白（aqp11,12）。由于目前还没有特异性的抑制剂，AQP在小鼠和人体内的功能作用被认为是无效的。AQP1、2、3、4、5缺失小鼠，尤其是AQP2缺失小鼠表现出异常的水代谢，因尿崩症致新生儿死亡。正常小鼠AQP3、7、9均表现为甘油转运异常。AQP0缺失小鼠可患白内障，但发病机制尚不清楚。出乎意料的是，AQP11缺失小鼠死于多囊肾导致的尿毒症。有趣的是，AQP6、8、10、12缺失小鼠几乎正常。AQP缺失的人有AQP0, 1,2,3,7的报道，只有AQP2缺失的人表现出突出的表型，尿崩症。本文对所有哺乳动物aqp的研究现状进行了综述，希望对今后在临床和基础领域的研究有所启发。
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.