title: 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.
abstract: 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 alpha-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)16 sequence was localized 2.2 kb upstream of the ATG start codon. Fluorescence in situ hybridization 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.
authors.affiliation: Institut de pharmacologie moleculaire et cellulaire, CNRS, Sophia Antipolis, France.
authors.forename: J P
authors.initials: JP
authors.lastname: Hugnot
authors.forename: F
authors.initials: F
authors.lastname: Pedeutour
authors.forename: C
authors.initials: C
authors.lastname: Le Calvez
authors.forename: J
authors.initials: J
authors.lastname: Grosgeorge
authors.forename: E
authors.initials: E
authors.lastname: Passage
authors.forename: M
authors.initials: M
authors.lastname: Fontes
authors.forename: M
authors.initials: M
authors.lastname: Lazdunski
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000818:Animals; D002460:Cell Line; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D006224:Cricetinae; D018900:Dinucleotide Repeats; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D015221:Potassium Channels / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying; D013577:Syndrome
chemical_list: D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying