title: Two naturally occurring amino acid substitutions in the human 5-HT1A receptor: glycine 22 to serine 22 and isoleucine 28 to valine 28.
abstract: The human 5-HT1A receptor was screened for naturally occurring mutations. The PCR product of the 5-HT1A receptor gene was digested with several restriction enzymes and evaluated by single-strand conformational polymorphism (SSCP) analysis. Comparison of the SSCP electrophoretic pattern with a restriction map of the 5-HT1A receptor allowed localization of the polymorphic sites facilitating their identification by sequence analysis. Two polymorphisms were identified in the human 5-HT1A receptor gene that altered amino acid composition. The polymorphisms encode amino acid substitutions in the 5-HT1A receptor of a glycine to serine at amino acid 22 and an isoleucine to valine at amino acid 28, respectively. Both polymorphisms alter the extracellular amino terminal domain of the 5-HT1A receptor. The polymorphic 5-HT1A alleles have been found in American and Finnish Caucasians and in native American Indians. This is the first report of a polymorphism in the human 5-HT1A receptor gene that alters the structure of the 5-HT1A receptor protein composition.
authors.affiliation: Section of Molecular Genetics, NIAAA, National Institutes of Health, Rockville, MD 20852, USA.
authors.forename: B
authors.initials: B
authors.lastname: Nakhai
authors.forename: D A
authors.initials: DA
authors.lastname: Nielsen
authors.forename: M
authors.initials: M
authors.lastname: Linnoila
authors.forename: D
authors.initials: D
authors.lastname: Goldman
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D000596:Amino Acids / Q000235:genetics*; D001483:Base Sequence; D017931:DNA Primers; D005998:Glycine / Q000235:genetics; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011985:Receptors, Serotonin / Q000235:genetics*; D012694:Serine / Q000235:genetics; D014633:Valine / Q000235:genetics
chemical_list: D000596:Amino Acids; D017931:DNA Primers; D011985:Receptors, Serotonin; D007532:Isoleucine; D012694:Serine; D014633:Valine; D005998:Glycine