Complete genomic sequence of 195 kb of human DNA containing the gene GABRG2

GABA (gamma-aminobutyric acid), as the main inhibitory neurotransmitter in the brain, plays an essential role for the overall balance between neuronal excitation and inhibition by acting on GABAA receptors, which are ligand-g ated chloride channels. Impaired GABAergic function contributes to certain forms of epilepsy, schizophrenia, Alzheimer's Disease, and other neurologic al disorders. In order to identify possible genetic features and to further study biological regulation of GABAA receptor genes whose promoter element s and sequence anomalies may contribute to epileptic disorders, as an initi al step, we shot-gun sequenced a BAC clone, dj082c10 (195,909-bp in size), encompassing human gamma (2) subunit of GABAA receptor (GABRG2). It is, we believe, the first genomic sequence of the GABA receptor gamma subunit fami ly. Four contigs were assembled from 2950 reads prior to gap in an average redundancy of eight folds over the entire region. The precision df the cons ensus sequence was predicted to be 99.999% after closing gaps and finishing weak regions. The nine exons of GABRG2 spans an 85-kb region that had 81 S INEs comprising 22.32%, and nine L1 elements comprising 3.40%, respectively . However, the density of L1 in the regions flanking GABRG2 gene (29.45% by 45 elements) is significantly higher than that within the gene. The length of GABRG2 introns varies in the range of 1.5 kb to 38.1 kb.