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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.

Original publication

DOI

10.1006/geno.1994.1075

Type

Journal article

Journal

Genomics

Publication Date

01/1994

Volume

19

Pages

379 - 381

Addresses

Molecular Neurobiology Laboratory, Salk Institute, La Jolla, California 92037.

Keywords

Chromosomes, Human, Pair 15, Animals, Humans, Mice, Rats, Epilepsy, Mental Retardation, Chromosome Disorders, Chromosome Aberrations, Syndrome, Receptors, Nicotinic, DNA, Complementary, Chromosome Mapping, Cloning, Molecular, Species Specificity, Amino Acid Sequence, Base Sequence, Sequence Homology, Nucleic Acid, Genes, Molecular Sequence Data, Chromosome Inversion