Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region.
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.
van den Ouweland
A M
AM
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Knoop
M T
MT
Knoers
V V
VV
Markslag
P W
PW
Rocchi
M
M
Warren
S T
ST
Ropers
H H
HH
Fahrenholz
F
F
Monnens
L A
LA
van Oost
B A
BA
D000818:Animals; D001127:Arginine Vasopressin / Q000494:pharmacology; D002460:Cell Line; D002874:Chromosome Mapping; D002875:Chromosomes; D006224:Cricetinae; D000242:Cyclic AMP / Q000096:biosynthesis; D003919:Diabetes Insipidus / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011945:Receptors, Angiotensin / Q000235:genetics*; D017483:Receptors, Vasopressin; D014667:Vasopressins / Q000378:metabolism*
D005819:Genetic Markers; D011945:Receptors, Angiotensin; D017483:Receptors, Vasopressin; D014667:Vasopressins; D001127:Arginine Vasopressin; D000242:Cyclic AMP