doi: 10.1016/0888-7543(92)90067-3.
Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region
Affiliations
- PMID: 1324225
- DOI: 10.1016/0888-7543(92)90067-3
Item in Clipboard
Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region
Genomics.
1992 Aug.
Abstract
The gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) have both been localized in the Xqter region by genetic mapping and functional expression studies, respectively. In this paper genetic evidence that the DIR locus is localized distal to the DXS305 locus and that the functional gene for the V2 receptor is localized between the markers DXS269 and F8 is presented. These further refinements in the localization of both genes strengthen the assumption that both genes are identical and provide a rationale for cloning the gene by reversed genetics strategies.
Similar articles
-
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.Nat Genet. 1992 Oct;2(2):99-102. doi: 10.1038/ng1092-99. Nat Genet. 1992. PMID: 1303271
-
Derivatives of somatic cell hybrids which carry the human gene locus for nephrogenic diabetes insipidus (NDI) express functional vasopressin renal V2-type receptors.J Biol Chem. 1990 Sep 15;265(26):15379-82. J Biol Chem. 1990. PMID: 2168411
-
Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus.Nature. 1992 May 28;357(6376):336-9. doi: 10.1038/357336a0. Nature. 1992. PMID: 1534150
-
Nephrogenic diabetes insipidus: identification of the genetic defect.Pediatr Nephrol. 1993 Oct;7(5):685-8. doi: 10.1007/BF00852579. Pediatr Nephrol. 1993. PMID: 8251344 Review.
-
Molecular biology of diabetes insipidus.Annu Rev Med. 1995;46:331-43. doi: 10.1146/annurev.med.46.1.331. Annu Rev Med. 1995. PMID: 7541187 Review.
Cited by
-
X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies.Am J Hum Genet. 1992 Nov;51(5):1089-1102. Am J Hum Genet. 1992. PMID: 1357965 Free PMC article.
-
Treatment of congenital nephrogenic diabetes insipidus by hydrochlorothiazide and cyclooxygenase-2 inhibitor.Pediatr Nephrol. 2003 Oct;18(10):1073-6. doi: 10.1007/s00467-003-1195-0. Epub 2003 Jul 18. Pediatr Nephrol. 2003. PMID: 12883974
-
Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.J Clin Invest. 1995 Oct;96(4):2043-50. doi: 10.1172/JCI118252. J Clin Invest. 1995. PMID: 7560098 Free PMC article.
-
A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene.Pediatr Nephrol. 2007 May;22(5):670-3. doi: 10.1007/s00467-006-0388-8. Epub 2007 Jan 10. Pediatr Nephrol. 2007. PMID: 17216256
-
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.J Clin Invest. 1993 Sep;92(3):1262-8. doi: 10.1172/JCI116698. J Clin Invest. 1993. PMID: 8104196 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Medical
Molecular Biology Databases
Miscellaneous