title: A new inward rectifier potassium channel gene (KCNJ15) localized on chromosome 21 in the Down syndrome chromosome region 1 (DCR1).
abstract: The Down syndrome chromosome region-1 (DCR1) on subband q22.2 of chromosome 21 is thought to contain genes contributing to many features of the trisomy 21 phenotype, including dysmorphic features, hypotonia, and psychomotor delay. Isolation, mapping, and sequencing of trapped exons and captured cDNAs from cosmids of this region have revealed the presence of a gene (KCNJ15) encoding a potassium (K+) channel belonging to the family of inward rectifier K+ (Kir) channels. The amino acid sequence deduced from the 1125-bp open reading frame indicates that this gene is a member of the Kir4 subfamily; it has been named Kir4.2. It is expressed in kidney and lung during human development and in several adult tissues including kidney and brain. After Kir3.2 (GIRK2), Kir4.2 is the second K+ channel gene of this type described within the DCR1.
authors.affiliation: Faculté de Médecine Necker, CNRS URA1335, 156 rue de Vaugirard, Paris, 75015, France.
authors.forename: P
authors.initials: P
authors.lastname: Gosset
authors.forename: G A
authors.initials: GA
authors.lastname: Ghezala
authors.forename: B
authors.initials: B
authors.lastname: Korn
authors.forename: M L
authors.initials: ML
authors.lastname: Yaspo
authors.forename: A
authors.initials: A
authors.lastname: Poutska
authors.forename: H
authors.initials: H
authors.lastname: Lehrach
authors.forename: P M
authors.initials: PM
authors.lastname: Sinet
authors.forename: N
authors.initials: N
authors.lastname: Créau
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003001:Cloning, Molecular; D003360:Cosmids; D018076:DNA, Complementary / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics*; D005091:Exons; D015870:Gene Expression; D006801:Humans; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D010641:Phenotype; D015221:Potassium Channels / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying; D012333:RNA, Messenger / Q000235:genetics; D051381:Rats; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: D018076:DNA, Complementary; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D012333:RNA, Messenger