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.

doi:10.1016/0896-6273(89)90275-4

Cited by 115 publications

(48 citation statements)

References 29 publications

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“…Most of the genes are organized in ␥-␣-␤ and ␥-␣-␣-␤ gene clusters on different chromosomes. In humans, the ␥1-␣2-␣4-␤1 subunit gene cluster is localized on chromosome 4p12 (Buckle et al, 1989;Kirkness et al, 1991;Wilcox et al, 1992;McLean et al, 1995;Simon et al, 2004), the ␥2-␣1-␣6-␤2 cluster on chromosome 5q34 (Johnson et al, 1992;Wilcox et al, 1992;Russek and Farb, 1994;Kostrzewa et al, 1996;Simon et al, 2004), the ␥3-␣5-␤3 cluster on chromosome 15q13.2 (Wagstaff et al, 1991;Knoll et al, 1993;Greger et al, 1995;Simon et al, 2004), and the -␣3-cluster on Xq28 (Bell et al, 1989;Levin et al, 1996;Wilke et al, 1997). The human genes coding for ␦ and subunits are localized on chromosomes 1p36.3 (Emberger et al, 2000) and 5q35.1 (Simon et al, 2004), respectively.…”

Section: Gaba a Receptorsmentioning

confidence: 99%

Enhancement of GABAergic Activity: Neuropharmacological Effects of Benzodiazepines and Therapeutic Use in Anesthesiology

et al. 2011

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Section: Gaba a Receptorsmentioning

confidence: 99%

Enhancement of GABAergic Activity: Neuropharmacological Effects of Benzodiazepines and Therapeutic Use in Anesthesiology

et al. 2011

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“…IIiaosatellite mapping information and informativeness was obtained from: Buckle et al 1989;Decker et al 1992;Dracopoli et al 1991;� et aI. 1991;Granqvist et aI.…”

Section: 20)mentioning

confidence: 99%

Linkage Analysis of Fifty-Seven Microsatellite Loci to Bipolar Disorder

Gejman¹,

Martínez

Cao³

et al. 1993

Neuropsychopharmacol

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authors' goal was to screen for genetic linkage with mghly infonnative deoxyribonucleic acid (DNA)Urosatellite markers on a series of moderately sized HDrth American bipolar disorder (BP) pedigrees. These IP pedigrees were genotyped with 57 short tandem rrptIlt polymorphic systems (microsatellites) that were tcymIltiCll lly amplified from genomic DNA. We did not ,., significant evidence for genetic linkage. We found II\' WORDS: Mapping; Bipolar illness; Microsatellites; Gmtti c linkage simulations; GNASl; Human X-linked GABA-A receptor a3-subunit gene A body of epidemiologic studies implies that there is l&metic component that confers susceptibility to bipo

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“…The set of 19 GABA A receptor (GABR) subunits is the largest of any among the mammalian ion channel receptors, and the arrangement in the genome of their genes, as will be discussed, is unusual and can itself be of intrinsic significance. The mapping of these genes began in 1989 with the assignment of ␣1 to chromosome 5q34 and ␣3 to X q28, and most significantly, ␣2 and ␤1 were found together on 4p12 (10,11). The distribution of 14 of these genes in clusters on human chromosomes, as known from further cytogenetic, linkage, and genomic cloning studies, was reviewed in 1999 (12,13).…”

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confidence: 99%

Analysis of the Set of GABAA Receptor Genes in the Human Genome

Simon

Wakimoto

Fujita

et al. 2004

Journal of Biological Chemistry

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The genes of the ionotropic ␥-aminobutyric acid receptor (GABR) subunits have shown an unusual chromosomal clustering, but only now can this be fully specified by analyses of the human genome. We have characterized the genes encoding the 18 known human GABR subunits, plus one now located here, for their precise locations, sizes, and exon/intron structures. Clusters of 17 of the 19, distributed between five chromosomes, are specified in detail, and their possible significance is considered. By applying search algorithms designed to recognize sequences of all known GABRtype subunits in species from man down to nematodes, we found no new GABR subunit is detectable in the human genome. However, the sequence of the human orthologue of the rat GABR 3 receptor subunit was uncovered by these algorithms, and its gene could be analyzed. Consistent with those search results, orthologues of the ␤4 and ␥4 subunits from the chicken, not cloned from mammals, were not detectable in the human genome by specific searches for them. The relationships are consistent with the mammalian subunit being derived from the ␤ line and ⑀ from the ␥ line, with mammalian loss of ␤4 and ␥4. In their structures the human GABR genes show a basic pattern of nine coding exons, with six different genomic mechanisms for the alternative splicing found in various subunits. Additional noncoding exons occur for certain subunits, which can be regulatory. A dicysteine loop and its exon show remarkable constancy between all GABR subunits and species, of deduced functional significance.

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

Cited by 115 publications

References 29 publications

Enhancement of GABAergic Activity: Neuropharmacological Effects of Benzodiazepines and Therapeutic Use in Anesthesiology

Enhancement of GABAergic Activity: Neuropharmacological Effects of Benzodiazepines and Therapeutic Use in Anesthesiology

Linkage Analysis of Fifty-Seven Microsatellite Loci to Bipolar Disorder

Analysis of the Set of GABAA Receptor Genes in the Human Genome

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