Cloning of the Human Type-2 Vasopressin Receptor Gene
| Title: | Cloning of the Human Type-2 Vasopressin Receptor Gene |
|---|---|
| Authors: | Birnbaumer, Mariel; Barberis, Claude; Rosenthal, Walter; Seibold, Anita |
| Publisher: | Annals of the New York Academy of Sciences |
| Date Published: | July 22, 1993 |
| Reference Number: | 218 |
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This translation by the NDI Foundation is to assist the lay reader. To provide a clear, accessible interpretation of the original article, we eliminated or simplified some technical detail and complicated scientific language. We concentrated our translation on those aspects of the article dealing directly with NDI. The NDI Foundation thanks the researchers for their work toward understanding and more effectively treating this disorder.
© Copyright NDI Foundation 2007 (JC)
Those plates that showed increased AdC activity in response to AVP went through two further steps which enriched the DNA content in the mice cells until they produced 50 kilobase of human genomic DNA. From these cell cultures, they isolated a 2.2 kilobase DNA fragment that indicated by its ability to stimulate AdC in response to AVP that it contained the complete V2R gene. The V2R gene was cloned from this sample.
The V2R proved to be a member of the super family of G-protein-coupled receptors (GPCRs).
The V2R gene was located in the Xq28 region of the X chromosome. This is the same area researchers had identified as the location for the gene that, when mutated, causes nephrogenic diabetes insipidus (NDI). They did this using a type of analysis called genetic linkage analysis, which can locate the gene location without actually having to identify the gene. Since both methods of analysis located the NDI gene in the same area of the X chromosome, this strengthens the notion that the V2R gene is the NDI gene. That is, the gene that, when mutated, causes NDI.