Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease.
Hybridization of GABAA receptor probes to human chromosomes in situ and to DNA from sorted human chromosomes has localized the genes encoding a beta subunit and three isoforms of the alpha subunit. The alpha 2 and beta genes are both located on chromosome 4 in bands p12-p13 and may be adjacent. The alpha 1 gene is on chromosome 5 (bands q34-q35) and the alpha 3 gene is on the X chromosome. The alpha 3 locus was mapped also on the mouse X chromosome using genetic break-point analysis in an interspecies pedigree. The combined results locate the human alpha 3 gene within band Xq28, in a location that makes it a candidate gene for the X-linked form of manic depression.
Buckle
V J
VJ
Nuffield Department of Clinical Medicine, University of Oxford, England.
Fujita
N
N
Ryder-Cook
A S
AS
Derry
J M
JM
Barnard
P J
PJ
Lebo
R V
RV
Schofield
P R
PR
Seeburg
P H
PH
Bateson
A N
AN
Darlison
M G
MG
D000818:Animals; D002874:Chromosome Mapping; D004247:DNA; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008214:Lymphocytes / Q000502:physiology; D051379:Mice; D009693:Nucleic Acid Hybridization; D011963:Receptors, GABA-A / Q000235:genetics*
D011963:Receptors, GABA-A; D004247:DNA