Type 2 Vasopressin Receptor Gene, the Gene Responsible for Nephrogenic Diabetes Insipidus, Maps to Xq28 Close to the LICAM Gene

Line
Title: Type 2 Vasopressin Receptor Gene, the Gene Responsible for Nephrogenic Diabetes Insipidus, Maps to Xq28 Close to the LICAM Gene
Authors: Frattini, Annalisa; Patrosso, Cristina; Repetto, Monica; Susani, Lucia; Strina, Dario; Redolfi, Elena; Vezzoni, Paolo; Romano, Giovanna; Zucchi, Ileana; Villa, Anna
Publisher: Biochemical and Biophysical Research Communications
Date Published: June 30, 1993
Reference Number: 130
Line
Although long contigs have been assembled in Xq28, the interval between the anonymous probe St14 and the color vision locus is still incompletely defined. We report here that the recently cloned gene for type 2 vasopressin receptor (V2R) is physically linked to L1CAM using YACs and cosmids across about 180 kb of the region. Since it is known that L1CAM maps near the color pigment genes, this finding locates V2R in Xq28 in the area where nephrogenic diabetes insipidus (NDI) has been mapped by linkage analysis. The PFGE analysis of the clones positions V2R about 40 kb from the L1CAM gene in a region that appears to contain other unknown genes, since at least four putative CpG islands were identified by restriction analysis with rare cutter enzymes.
The publisher has not granted permission to reproduce this article on our website.
You may, however, obtain this article at the pu
To return to this page, use your "back" key.

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)

The terminal, or end, portion of the X chromosome is called the Xq28-qtr. It is an extremely rich in genes responsible for human hereditary diseases. Frattini, et al., analyzed this section of the X chromosome with the goal of identifying all the genes that were located there. One of their findings was that the vasopressin-2 (V2R) gene is located in this area close to the L1CAM gene. It is in fact, physically linked to the L1CAM gene. This finding locates V2R in Xq28 in the area where nephrogenic diabetes insipidus (NDI) has been located through linkage analysis, a type of analysis that finds genes that are located close to one another. Closely linked groups of genes tend to be associated in inheritance. The authors' finding provides an independent verification of other research indicating that the location for the NDI gene and the location of the V2R gene are one and the same. And this makes it more likely that mutations in the V2R gene are responsible for NDI.