| First Author | Buckle VJ | Year | 1989 |
| Journal | Cytogenet Cell Genet | Volume | 51 |
| Pages | 972 (Abstr.) | Mgi Jnum | J:12522 |
| Mgi Id | MGI:60767 | Citation | Buckle VJ, et al. (1989) Localization of the human GABA-A3 receptor subunit gene to Xq28: a candidate gene for X-linked manic depression. Cytogenet Cell Genet 51:972 (Abstr.) |
| abstractText | Full text of Abstract: Abstracts of workshop presentations: Localization of the human GABA-A3 receptor subunit gene to Xq28: a candidate gene for X-linked manic depression. (A2378) VJ Buckle1, N Fujita2, AN Bateson2, MG Darlison2, EA Barnard2; 1Nuffield Department of Clinical Medicine, University of Oxford, Oxford, OX3 9DU, England; 1MRC Molecular Neurobiology Unit, MRC Centre, Cambridge, CB2 2QH, England The GABA-A receptor is the major inhibitory neurotransmitter receptor in vertebrate brain. Three isoforms of the alpha subunit and one Beta subunit have been identified and mapped: GABRA2 and GABRB1 map to 4p12-p13 and GABRA1 maps to 5q34-q35 (Neuron, in press). We have now mapped the third isoform of the alpha subunit, GABRA3, to Xq28 by in situ hybridization. Nineteen per cent of grains counted over the male karyotype in thirty-five cells were localized to Xq27-q28, and there was no evidence of cross-hybridization to other chromosomes. 79% of all grains scored over the X chromosomes were localized to band Xq28. Linkage analysis has placed X-linked manic depression close to colour blindness and G6PD in Xq28. Linkage has also been found with F9 in Xq27 although with a recombination fraction of 0.11; this could be consistent with a location in the proximal part of Xq28. Given the localization of GABRA3 to Xq28, we suggest that it be considered a candidate gene for X-linked manic depression. Studies on the abundance and distribution of mRNA and protein indicate that GABRA3 may be present in receptors in only a small minority of neurons and hence a defect in it may be pathogenic but not lethal. |
