Molecular biology of diabetes insipidus.
The identification, characterization, and mutational analysis of three different genes, namely the prepro-arginine-vasopressin-neurophysin II gene (prepro-AVP-NPII), the arginine-vasopressin receptor 2 gene (AVPR2), and the vasopressin-sensitive water channel gene (aquaporin-2, AQP2), provide the basis for our understanding of three different hereditary forms of diabetes insipidus: autosomal dominant neurogenic diabetes insipidus, X-linked nephrogenic diabetes insipidus, and autosomal recessive nephrogenic diabetes insipidus, respectively. These advances provide diagnostic tools for physicians caring for these patients.
Fujiwara
T M
TM
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Morgan
K
K
Bichet
D G
DG
D000595:Amino Acid Sequence; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D001127:Arginine Vasopressin / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004252:DNA Mutational Analysis; D003919:Diabetes Insipidus / Q000235:genetics*; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D008969:Molecular Sequence Data; D009481:Neurophysins / Q000235:genetics*; D010121:Oxytocin; D010375:Pedigree; D011498:Protein Precursors / Q000235:genetics*; D017483:Receptors, Vasopressin / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
C496023:AQP2 protein, human; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D007473:Ion Channels; D009481:Neurophysins; D011498:Protein Precursors; D017483:Receptors, Vasopressin; D001127:Arginine Vasopressin; D010121:Oxytocin