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Background  Non-coding single nucleotide polymorphisms (SNPs) in  GABRB2 , the gene for β 2 -subunit of gamma-aminobutyric acid type A (GABA A ) receptor, have been associated with schizophrenia (SCZ) and quantitatively correlated to mRNA expression and alternative splicing.    Methods and Findings  Expression of the Exon 10 region of  GABRB2  from minigene constructs revealed this region to be an “alternative splicing hotspot” that readily gave rise to differently spliced isoforms depending on intron sequences. This led to a search in human brain cDNA libraries, and the discovery of two novel isoforms, β 2S1  and β 2S2 , bearing variations in the neighborhood of Exon-10. Quantitative real-time PCR analysis of postmortem brain samples showed increased β 2S1  expression and decreased β 2S2  expression in both SCZ and bipolar disorder (BPD) compared to controls. Disease-control differences were significantly correlated with SNP rs187269 in BPD males for both β 2S1  and β 2S2  expressions, and significantly correlated with SNPs rs2546620 and rs187269 in SCZ males for β 2S2  expression. Moreover, site-directed mutagenesis indicated that Thr 365 , a potential phosphorylation site in Exon-10, played a key role in determining the time profile of the ATP-dependent electrophysiological current run-down.    Conclusion  This study therefore provided experimental evidence for the importance of non-coding sequences in the Exon-10 region in  GABRB2  with respect to β 2 -subunit splicing diversity and the etiologies of SCZ and BPD.

Alternative-Splicing in the Exon-10 Region of GABAA Receptor β2 Subunit Gene: Relationships between Novel Isoforms and Psychotic Disorders