Structure and chromosomal localization of the human antidiuretic hormone receptor gene.

Applying a genomic DNA-expression approach, we cloned the gene and cDNA coding for the human anti-diuretic hormone receptor, also called "vasopressin V2 receptor" (V2R). The nucleotide sequence of both cloned DNAs provided the information to elucidate the structure of the isolated transcriptional unit. The structure of this gene is unusual in that it is the first G protein-coupled receptor gene that contains two very small intervening sequences, the second of which separates the region encoding the seventh transmembrane region from the rest of the open reading frame. The sequence information was used to synthesize appropriate oligonucleotides to be used as primers in the PCR. The V2R gene was localized by PCR using DNA from hybrid cells as template. The gene was found to reside in the q28-qter portion of the human X chromosome, a region identified as the locus for congenital nephrogenic diabetes insipidus.