title: Sequence and genomic organization of the human G-protein Golfalpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia.
abstract: The sequence and genomic organization of the human Golfalpha (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 3'-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.
authors.affiliation: Biocenter Oulu and Department of Medical Biochemistry, University of Oulu, Finland.
authors.forename: J T
authors.initials: JT
authors.lastname: Vuoristo
authors.forename: W H
authors.initials: WH
authors.lastname: Berrettini
authors.forename: J
authors.initials: J
authors.lastname: Overhauser
authors.forename: D J
authors.initials: DJ
authors.lastname: Prockop
authors.forename: T N
authors.initials: TN
authors.lastname: Ferraro
authors.forename: L
authors.initials: L
authors.lastname: Ala-Kokko
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D001483:Base Sequence; D001714:Bipolar Disorder / Q000235:genetics*; D015152:Blotting, Northern; D002887:Chromosomes, Human, Pair 18; D003360:Cosmids; D017931:DNA Primers; D018076:DNA, Complementary; D018900:Dinucleotide Repeats; D005091:Exons; D044385:GTP-Binding Protein alpha Subunits; D015723:Gene Library; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic / Q000235:genetics; D012333:RNA, Messenger / Q000032:analysis; D012559:Schizophrenia / Q000235:genetics*; D017422:Sequence Analysis, DNA; D015398:Signal Transduction / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions; D017931:DNA Primers; D018076:DNA, Complementary; D044385:GTP-Binding Protein alpha Subunits; D012333:RNA, Messenger; C084618:olfactory G protein subunit alpha olf; D020962:Heterotrimeric GTP-Binding Proteins