title: Molecular cloning and chromosomal localization of the human alpha 7-nicotinic receptor subunit gene (CHRNA7).
abstract: We have isolated cDNA and genomic clones coding for the human alpha 7 neuronal nicotinic receptor subunit, the major component of brain nicotinic receptors that are blocked by alpha-bungarotoxin. The human alpha 7 neuronal nicotinic cDNA encodes a mature protein of 479 amino acids that is highly homologous to the rat alpha 7 neuronal nicotinic subunit (90%). We have mapped the human alpha 7-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.
authors.affiliation: Molecular Neurobiology Laboratory, Salk Institute, La Jolla, California 92037.
authors.forename: B
authors.initials: B
authors.lastname: Chini
authors.forename: E
authors.initials: E
authors.lastname: Raimond
authors.forename: A B
authors.initials: AB
authors.lastname: Elgoyhen
authors.forename: D
authors.initials: D
authors.lastname: Moralli
authors.forename: M
authors.initials: M
authors.lastname: Balzaretti
authors.forename: S
authors.initials: S
authors.lastname: Heinemann
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D005796:Genes; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D051381:Rats; D011978:Receptors, Nicotinic / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity; D013577:Syndrome; D064569:alpha7 Nicotinic Acetylcholine Receptor
chemical_list: C579167:Chrna7 protein, human; C579166:Chrna7 protein, mouse; C579165:Chrna7 protein, rat; D018076:DNA, Complementary; D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor