Structure and organization of the gene encoding human dopamine transporter.

The human dopamine transporter (hDAT) is a member of the subfamily of monoamine transporters which show a common topological structure and possess significant amino acid sequence homology. We isolated and characterized the hDAT gene including about 1 kb of 5'-flanking region. The hDAT gene spans over 64 kb, consisting of 15 exons separated by 14 introns. The intron-exon structure of the hDAT gene is most similar to that of the human noradrenaline transporter (hNAT) gene. Promoter sequence analysis demonstrated a 'TATA'-less, 'CAT'-less and G+C-rich structure. Two E box and several Sp-1-binding sites exist in the promoter region. These structural features are similar to that of the human D1A dopamine receptor gene and the human monoamine oxidase A gene. The transcription start site was determined by both 5'-RACE and RNase protection assay. We determined the 5' end of the mRNA by identifying the 5'-terminal cap-G residue in 5'-RACE and RNase protection assay.