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Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.
Nat Genet. 1992 Oct; 2(2):103-6.NGen

Abstract

X-linked nephrogenic diabetes insipidus (NDI) is a rare disorder in which the kidney is insensitive to the antidiuretic hormone, vasopressin. It has been proposed that the kidney-specific V2 vasopressin receptor, a G protein-coupled receptor, is defective in this disorder as both the disease and the receptor map to Xq28. We report six unique mutations in the V2 receptor gene of five unrelated NDI patients, with one patient having two mutations. The most severely affected patient has a nonsense mutation which would terminate the protein in transmembrane domain III. Other mutations include three missense mutations, a frameshift and one small in-frame deletion. These results represent one of the first examples of recessive mutations affecting a G protein-coupled receptor.

Authors+Show Affiliations

Howard Hughes Medical Institute, University of California, San Francisco 94143.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

1303257

Citation

Pan, Y, et al. "Mutations in the V2 Vasopressin Receptor Gene Are Associated With X-linked Nephrogenic Diabetes Insipidus." Nature Genetics, vol. 2, no. 2, 1992, pp. 103-6.
Pan Y, Metzenberg A, Das S, et al. Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nat Genet. 1992;2(2):103-6.
Pan, Y., Metzenberg, A., Das, S., Jing, B., & Gitschier, J. (1992). Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nature Genetics, 2(2), 103-6.
Pan Y, et al. Mutations in the V2 Vasopressin Receptor Gene Are Associated With X-linked Nephrogenic Diabetes Insipidus. Nat Genet. 1992;2(2):103-6. PubMed PMID: 1303257.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. AU - Pan,Y, AU - Metzenberg,A, AU - Das,S, AU - Jing,B, AU - Gitschier,J, PY - 1992/10/1/pubmed PY - 1992/10/1/medline PY - 1992/10/1/entrez SP - 103 EP - 6 JF - Nature genetics JO - Nat. Genet. VL - 2 IS - 2 N2 - X-linked nephrogenic diabetes insipidus (NDI) is a rare disorder in which the kidney is insensitive to the antidiuretic hormone, vasopressin. It has been proposed that the kidney-specific V2 vasopressin receptor, a G protein-coupled receptor, is defective in this disorder as both the disease and the receptor map to Xq28. We report six unique mutations in the V2 receptor gene of five unrelated NDI patients, with one patient having two mutations. The most severely affected patient has a nonsense mutation which would terminate the protein in transmembrane domain III. Other mutations include three missense mutations, a frameshift and one small in-frame deletion. These results represent one of the first examples of recessive mutations affecting a G protein-coupled receptor. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/1303257/Mutations_in_the_V2_vasopressin_receptor_gene_are_associated_with_X_linked_nephrogenic_diabetes_insipidus_ L2 - http://dx.doi.org/10.1038/ng1092-103 DB - PRIME DP - Unbound Medicine ER -