Bichet D G
University of Montreal, Quebec, Canada.
Curr Opin Nephrol Hypertens. 1994 Jan;3(1):46-53. doi: 10.1097/00041552-199401000-00006.
The molecular cloning and characterization of receptors for [Arg8] vasopressin and oxytocin were recently accomplished. These receptors form a subfamily among the large number of guanine nucleotide-binding regulatory protein (G protein)-coupled receptors with seven transmembrane domains. The molecular cloning of the human V2 receptor was rapidly followed by the identification of mutations in the V2 receptor gene segregating with the clinical phenotype in families with X-linked nephrogenic diabetes insipidus. These naturally occurring mutations will be useful to identify critical functional regions of the vasopressin V2 receptor. Carrier detection and early diagnosis of affected male infants are available and can avert the physical and mental retardation that are the consequences of episodes of dehydration. Together with the recent cloning of the vasopressin-regulated water channels in the apical membrane of the collecting tubule, these developments will enable direct investigation of the mammalian concentrating mechanism.
最近完成了[精氨酸8]血管加压素和催产素受体的分子克隆及特性分析。这些受体在大量具有七个跨膜结构域的鸟嘌呤核苷酸结合调节蛋白（G蛋白）偶联受体中形成一个亚家族。人类V2受体的分子克隆之后，很快就鉴定出在患有X连锁肾性尿崩症的家族中，V2受体基因的突变与临床表型相关。这些自然发生的突变将有助于确定血管加压素V2受体的关键功能区域。现在可以对受影响男婴进行携带者检测和早期诊断，从而避免因脱水发作而导致的身心发育迟缓。连同最近克隆出的集合管顶端膜中血管加压素调节的水通道，这些进展将使人们能够直接研究哺乳动物的浓缩机制。
