Sequence and genomic organization of the human G-protein Golf alpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia

The sequence and genomic organization of the human Golf alpha (GNAL) gene were determined. The human GNAL gene was found to contain 12 coding exons, and it spans over 80 kb on chromosome 18p11. 5' RACE analysis suggested an additional transcription initiation start site. Sequence analysis of the putative promoter region revealed conserved binding sites for several transcription factors, Sequence analysis of the 9'-untranslated region revealed the presence of two Alu sequences and two polyadenylation signals. 3' RACE analysis confirmed the functionality of the most downstream poly-a signal. The human GNAL was found to be expressed as a single transcript of about 5.9 kb in the brain. One highly informative dinucleotide repeat was found in intron 5. Additionally, a processed pseudogene for asparagine synthetase was found about 6 kb upstream of the GNAL gene, Knowledge of the sequence and structure of the human GNAL gene provides essential information for further analysis of the GNAL locus at chromosome 18p11 which has been linked to bipolar disorder and schizophrenia.