title: Nucleotide sequence analysis of the human KCNJ1 potassium channel locus.
abstract: Detailed analyses of transcripts encoding various isoforms of the human potassium (K+, inward rectifying) channel ROM-K (also referred to as K(ir)1.1) revealed the existence of at least five distinct transcripts [Shuck et al., J. Biol. Chem. 269 (1994) 24261-24270]. These five hROM-K transcripts appear to be the result of alternative splicing of five exons. The nucleotide sequence of the genomic DNA including and spanning these exons (the KCNJ1 locus) was obtained directly from lambda and P1 clones (a total of 40 kb). The organization of the hKCNJ1 gene was determined by combining this sequence information with data obtained from primer extension and RT-PCR experiments. It appears that the hKCNJ1 gene utilizes multiple promoters, with promoter-like elements found 5' of exons 1, 4, or 5. The promoter 5' of exon 5 was unexpected; thus, it appears that the hKCNJ1 gene is capable of producing six distinct hROM-K transcripts via the use of three promoters and alternative splicing of five exons. Comparisons of the rat and human ROM-K cDNA sequences find human homologs (orthologs) for two of the three distinct rROM-K transcripts. A search of the complete human KCNJ1 sequence with the exon sequence that defines the other rROM-K transcript located a region of shared nucleotides, a putative sixth exon, in the hKCNJ1 gene. This finding suggests that the rKCNJ1 gene may contain an exon that is no longer or infrequently used in transcripts derived from the hKCNJ1 gene.
authors.affiliation: Molecular Biology Unit, Pharmacia and Upjohn Company, Kalamazoo, MI 49007, USA.
authors.forename: J H
authors.initials: JH
authors.lastname: Bock
authors.forename: M E
authors.initials: ME
authors.lastname: Shuck
authors.forename: C W
authors.initials: CW
authors.lastname: Benjamin
authors.forename: M
authors.initials: M
authors.lastname: Chee
authors.forename: M J
authors.initials: MJ
authors.lastname: Bienkowski
authors.forename: J L
authors.initials: JL
authors.lastname: Slightom
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA; D017931:DNA Primers; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D011061:Poly A; D015221:Potassium Channels / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying; D011401:Promoter Regions, Genetic; D051381:Rats; D012091:Repetitive Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; C086989:KCNJ1 protein, human; C510692:Kcnj1 protein, rat; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D011061:Poly A; D004247:DNA