title: Characterization and variation of a human inwardly-rectifying-K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit.
abstract: The ATP-sensitive K-channel plays a central role in insulin release from pancreatic beta-cells. We report here the cloning of the gene (KCNJ6) encoding a putative subunit of a human ATP-sensitive K-channel expressed in brain and beta-cells, and characterisation of its exon-intron structure. Screening of a somatic cell mapping panel and fluorescent in situ hybridization place the gene on chromosome 21 (21q22.1-22.2). Analysis of single-stranded conformational polymorphisms revealed the presence of two silent polymorphisms (Pro-149: CCG-CCA and Asp-328: GAC-GAT) with similar frequencies in normal and non-insulin-dependent diabetic patients.
authors.affiliation: University Laboratory of Physiology, Oxford, UK.
authors.forename: H
authors.initials: H
authors.lastname: Sakura
authors.forename: C
authors.initials: C
authors.lastname: Bond
authors.forename: M
authors.initials: M
authors.lastname: Warren-Perry
authors.forename: S
authors.initials: S
authors.lastname: Horsley
authors.forename: L
authors.initials: L
authors.lastname: Kearney
authors.forename: S
authors.initials: S
authors.lastname: Tucker
authors.forename: J
authors.initials: J
authors.lastname: Adelman
authors.forename: R
authors.initials: R
authors.lastname: Turner
authors.forename: F M
authors.initials: FM
authors.lastname: Ashcroft
mesh_terms: D000255:Adenosine Triphosphate / Q000494:pharmacology; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D003001:Cloning, Molecular; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels; D014644:Genetic Variation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D018807:Polymorphism, Single-Stranded Conformational; D015221:Potassium Channels / Q000737:chemistry / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying; D051381:Rats
chemical_list: D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels; C094401:KCNJ6 protein, human; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D000255:Adenosine Triphosphate