Structure and Chromosomal Localization of the Human Antidiuretic Hormone Receptor Gene
|Title:||Structure and Chromosomal Localization of the Human Antidiuretic Hormone Receptor Gene|
|Authors:||Seibold, Anita; Brabet, Philippe; Rosenthal, Walter; Birnbaumer, Mariel|
|Publisher:||American Journal of Human Genetics|
|Date Published:||November 01, 1992|
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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)
In the disorder called congenital nephrogenic diabetes insipidus (NDI) the kidney cannot respond to AVP so it cannot reabsorb water or concentrate urine. This accounts for NDI's primary symptoms: polyuria (chronic passage of large volumes of urine) and polydipsia (chronic, excessive thirst). Researchers tracking the genetic linkage patterns associated with inherited NDI have mapped the position of the gene thought to be responsible for NDI to the q28-qter region of the X chromosome.
Seibold, et al., used genomic DNA extracted from hamster/human hybrid cell lines to localize the V2R gene by using a method called polymerase chain reaction (PCR). PCR amplifies the DNA to produce a sufficient amount for genetic analysis. They then cloned the V2R gene. The authors found the V2R gene had three expressed exons (an exon is a stretch of the gene that contains a coding sequence that instructs the development of the protein the gene synthesizes) and two unusually short introns (stretches of the gene that do not contain coding sequences.)
The first expressed exon is very short, and the second contains the code for approximately 80% of the V2R, up to the beginning of the V2R's seventh transmembrane region. (You can look at a diagram of V2R here.) The third exon codes for the seventh transmembrane region.
Again using PCR analysis, the authors found that the V2R gene was present in the q28-qtr position of the human X chromosome, a region previously identified by another method of analysis, genetic linkage, as the location of the NDI-causing gene. This finding gives strength to the notion that mutant V2R genes are the genes responsible for inherited NDI. The information about the structure and location of the V2R gene should facilitate comparison between the V2R genes of healthy individuals and those of people with NDI.