Molecular Cloning and Chromosomal Localization of the Human α7-Nicotinic Receptor Subunit Gene (CHRNA7)

We have isolated cDNA and genomic clones coding for the human α7 neuronal nicotinic receptor subunit, the major component of brain nicotinic receptors that are blocked by α-bungarotoxin. The human α7 neuronal nicotinic cDNA encodes a mature protein of 479 amino acids that is highly homologous to the rat α7 neuronal nicotinic subunit (90%). We have mapped the human α7-nicotinic receptor subunit gene to chromosome 15, band q14, a region frequently rearranged in patients carrying a bisatellite 15 chromosome, large inv dup (15), whose clinical features include mental retardation and seizures.