Comparative Mapping on the Mouse and Human X Chromosomes of a Human cDNA Clone Encoding the Vasopressin Renal-Type Receptor (AVP2R)

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Title: Comparative Mapping on the Mouse and Human X Chromosomes of a Human cDNA Clone Encoding the Vasopressin Renal-Type Receptor (AVP2R)
Authors: Birnbaumer, Mariel; Faust, Cynthia J.; Gonzales, Juanita C.; Seibold, Anita; Herman, Gail E.
Publisher: Genomics
Date Published: February 01, 1993
Reference Number: 138
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Abstract • Article • Translation
Mutations in the gene for the human renal-type vasopressin receptor (V2R) have recently been identified in patients with nephrogenic diabetes insipidus (NDI). Both V2R and NDI have been independently mapped to Xq28. Using a combination of genetic and physical mapping, we have localized the murine V2r locus to within 100 kb of L1Cam on the mouse X chromosome in a region syntenic with human Xq28. Based on conserved gene order of mouse and human loci in this region, physical mapping using DNA derived from human lymphoblasts has established that the corresponding human loci V2R and L1CAM are linked within 210 kb. The efficiency and precision of genetic mapping of V2r and other loci in the mouse suggest that it might be easier to map additional human genes in the mouse first and infer the corresponding human location. More precise physical mapping in man could then be performed using pulsed-field gel electrophoresis and/or yeast artificial chromosomes.
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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)

Researchers have long suspected that the gene responsible for nephrogenic diabetes insipidus (NDI) was the vasopressin-2 receptor (V2R) gene. Researchers had performed linkage analysis using genes whose location on the X chromosome were known, and established that the gene that caused NDI was located in the Xq28 region of the X chromosome. Other researchers found that hamster cells engineered to contain the Xq28 region of a human X chromosome were capable of binding with the hormone, arginine vasopressin (AVP) and then stimulating the metabolic regulator, cAMP. These are functions that are performed by human V2Rs; hence this experiment indicated that the V2R gene was also located in the Xq28 region of the X chromosome. This strengthened the notion that the NDI gene was, in fact, the V2R gene.

Faust, et al., report on their success in introducing human V2R DNA into mouse X chromosomes and then being able to locate the human V2R gene in the region of the mouse X chromosome that is analogous to the human Xq28 region. The efficiency and precision with which the authors could map the human V2R in mice suggests that it might be easier to map human genes in mouse chromosomes first, on the assumption that the human genes will locate in the same relative area of the mouse gene as they normally would in the human gene. Doing this, researchers could first find the location of the human gene on the mouse gene, infer its location on the human gene and then more precisely map it on the human gene using pulsed-field gel electrophoresis and/or artificial chromosomes.