Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor...

Genomic DNA that encodes the beta 1 subunit of the human gamma-aminobutyric acidA (GABAA) receptor was cloned and mapped. Exons and flanking introns (greater than 14 kb) were sequenced to determine the structural organization of the gene. The gene was localized on human chromosome 4, in bands p12-13. The beta 1 subunit is encoded by a relatively large gene (greater than 65 kb) on nine exons. In contrast to other conserved regions of the subunit polypeptide, the proposed channel-forming domain (M2) is derived from more than one exon. The organization of exons was compared with that of the genes that code for subunits of nicotinic acetylcholine receptors. There is no evidence for conservation of gene structure between these two members of the proposed gene superfamily. However, intron-exon junctions were found to be conserved precisely between subtypes of GABAA receptor subunits.