[From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus].
In the kidney, binding of arginine vasopressin to the vasopressin type-2 receptor (V2R) causes redistribution of aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical cell membrane, a process which initiates urine concentration. This is disturbed in nephrogenic diabetes insipidus due to mutations in the V2R gene, which lies on Xq28 and has a sex-linked recessive heredity, or the AQP2 gene, which lies on chromosome 12 and has an autosomal heredity. In the case of a recessive abnormality the AQP2 protein which does not fold properly, remains in the endoplasmatic reticulum and is then broken down by a protease. For a dominant abnormality the transport signal in the AQP2 protein changes which results in it being found in another part of the cell namely the Golgi apparatus.
Knoers
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NV
Universitair Medisch Centrum St Radboud, afd. Antropogenetica, Postbus 9101, 6500 HB Nijmegen. n.knoers@antrg.azn.nl
Deen
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PM
D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins / Q000235:genetics* / Q000378:metabolism; D001127:Arginine Vasopressin / Q000235:genetics / Q000378:metabolism*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D018500:Diabetes Insipidus, Nephrogenic / Q000235:genetics* / Q000378:metabolism; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D017483:Receptors, Vasopressin / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics
C496023:AQP2 protein, human; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D017483:Receptors, Vasopressin; D001127:Arginine Vasopressin