The Human Inward Rectifying K+Channel Kir 2.2 (KCNJ12) Gene: Gene Structure, Assignment to Chromosome 17p11.1, and Identification of a Simple Tandem Repeat Polymorphism

• Published in: Genomics (San Diego, Calif.) Vol. 39; no. 1; pp. 113 - 116
• Main Authors: Hugnot, J.P., Pedeutour, F., Le Calvez, C., Grosgeorge, J., Passage, E., Fontes, M., Lazdunski, M.
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 01-01-1997; Elsevier
• Subjects: Abnormalities, Multiple - genetics; Animals; Biological and medical sciences; Cell Line; Chromosome Mapping; Chromosomes, Human, Pair 17; Classical genetics, quantitative genetics, hybrids; Cloning, Molecular; Cricetinae; Dinucleotide Repeats; Exons; Female; Fundamental and applied biological sciences. Psychology; Gene Deletion; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; In Situ Hybridization, Fluorescence; Introns; Male; Mice; Molecular Sequence Data; Polymorphism, Genetic; Potassium Channels - genetics; Potassium Channels, Inwardly Rectifying; Syndrome; Genetic mapping; Human; Gene; Chromosome E17; Microsatellite DNA; Alpha-Peptide chain; Ionic channel; Molecular biology; Potassium; Polymorphism
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1996.4450

K+channels are essential for a variety of cellular functions in both excitable and nonexcitable cells, and K+channel gene alteration has been recently described in cardiac and neurological disorders. To explore further the relations between hereditary human diseases and K+channels, we isolated from a human cosmid library the gene encoding the inwardly rectifying K+channel α-subunit Kir 2.2 (KCNJ12). PCR analysis performed on this clone indicates that the entire open reading frame is contained in one unique exon. A polymorphic (CA)16sequence was localized 2.2 kb upstream of the ATG start codon. Fluorescencein situhybridization on human metaphases assigns the gene to band 17p11.1. The implication of a deletion of the Kir 2.2 gene in the Smith–Magenis syndrome, which is also localized at 17p11, is unlikely since a Kir 2.2-linked microsatellite sequence could be amplified from the DNA of a Smith–Magenis syndrome affected patient bearing a 17p interstitial deletion.