Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease

Buckle, Veronica J.; Fujita, Norihisa; Ryder-Cook, Allan S.; Derry, Jonathan M.J.; Barnard, Pene J.; Lebo, Roger V.; Schofield, Peter R.; Seeburg, Peter H.; Bateson, Alan N.; Darlison, Mark G.; Barnard, Eric A.

Abstract

Hybridization of {GABAA} receptor probes to human chromosomes in situ and to {DNA} from sorted human chromosomes has localized the genes encoding a β subunit and three isoforms of the a subunit. The α2 and β genes are both located on chromosome 4 in bands p12–p13 and may be adjacent. The α1 gene is on chromosome 5 (bands q34–q35) and the α3 gene is on the X chromosome. The a3 locus was mapped also on the mouse X chromosome using genetic break-point analysis in an interspecies pedigree. The combined results locate the human a3 gene within band Xg28, in a location that makes it a candidate gene for the X-linked form of manic depression.

• Journal Article Type: Article
• Publication Date: 1989-11
• Deposit Date: Jul 27, 2016
• Journal: Neuron
• Print ISSN: 0896-6273
• Publisher: Elsevier
• Peer Reviewed: Peer Reviewed
• Volume: 3
• Issue: 5
• Pages: 647-654
• DOI: https://doi.org/10.1016/0896-6273%2889%2990275-4
• Keywords: General Neuroscience
• Public URL: http://researchrepository.napier.ac.uk/Output/317363
• Publisher URL: http://www.sciencedirect.com/science/article/pii/0896627389902754