title: Human adenosine A1 receptor gene: systematic screening for DNA sequence variation and linkage mapping on chromosome 1q31-32.1 using a silent polymorphism in the coding region.
abstract: Adenosine is a major inhibitory neuromodulator in the central nervous system. One of the receptors mediating the central effects of adenosine is the adenosine A1 receptor. We performed a systematic mutation scan of the coding region of the adenosine A1 receptor gene to explore its variability in the general population. Investigating 40 unrelated healthy subjects by single-strand conformation analysis no sequence changes of likely functional relevance were observed. We detected, however, a frequent T to G substitution at nucleotide position 716 which constitutes the first variant described in an adenosine receptor gene. It was used for fine scale linkage mapping of the A1 gene. Employing a polymerase-chain-reaction-based restriction assay, we genotyped 7 CEPH families (Centre d'Etude du Polymorphisme Humaine) and mapped the receptor in a gene cluster around the renin gene on chromosome 1q31-32.1. In addition, we utilized the 716T/G polymorphism to demonstrate biallelic expression of the adenosine A1 receptor gene in adult human brain.
authors.affiliation: Institute of Human Genetics, University of Bonn, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Deckert
authors.forename: M M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: S P
authors.initials: SP
authors.lastname: Bryant
authors.forename: H
authors.initials: H
authors.lastname: Ren
authors.forename: H K
authors.initials: HK
authors.lastname: Wolf
authors.forename: G L
authors.initials: GL
authors.lastname: Stiles
authors.forename: N K
authors.initials: NK
authors.lastname: Spurr
authors.forename: P
authors.initials: P
authors.lastname: Propping
mesh_terms: D000328:Adult; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D017931:DNA Primers; D008040:Genetic Linkage; D005819:Genetic Markers; D014644:Genetic Variation; D005838:Genotype; D006147:Guanine; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018047:Receptors, Purinergic P1 / Q000235:genetics*; D012016:Reference Values; D015183:Restriction Mapping; D013941:Thymine
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D018047:Receptors, Purinergic P1; D006147:Guanine; D013941:Thymine