title: Genomic sequencing reveals the structure of the Kcnk6 and map3k11 genes and their close vicinity to the sipa1 gene on mouse chromosome 19.
abstract: In this report we present the analysis of two overlapping mouse cosmid clones that contain the entire Kcnk6, Map3k11 and Pcnxl3 genes, as well as part of the Sipa1 gene. The sequence and genomic organisation of the Kcnk6 and Map3k11 genes are described in detail. Sipa1 and Map3k11, which have independently been mapped with low resolution to the centromeric region of mouse chromosome 19, are shown here to lie close to each other and to the Kcnk6 gene, which has not previously been mapped. This gene cluster maps to the vicinity of the Dancer (Dc) mutation, which involves inner ear abnormalities and circling phenotypes. Since potassium channels have been implicated in deafness disorders, we have analysed the Kcnk6 gene, which encodes a two-P domain potassium channel, in the Dc mutant. No Dc-causing mutation in the Kcnk6 coding region could be identified. However, we detected a polymorphism in the Kcnk6 gene that leads to a C-terminal extension of the encoded protein by eight amino acids.
authors.affiliation: Institute of Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Saridaki
authors.forename: C
authors.initials: C
authors.lastname: Ferraz
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: G
authors.initials: G
authors.lastname: Scherer
authors.forename: A F
authors.initials: AF
authors.lastname: Roux
mesh_terms: D000199:Actins / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001426:Bacterial Proteins; D001483:Base Sequence; D002503:Centromere / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics; D005091:Exons / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics*; D020930:MAP Kinase Kinase Kinases / Q000737:chemistry / Q000235:genetics*; D051379:Mice; D008817:Mice, Mutant Strains; D008840:Microfilament Proteins; D020929:Mitogen-Activated Protein Kinase Kinases; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D020161:Physical Chromosome Mapping; D011110:Polymorphism, Genetic / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics*; D024683:Potassium Channels, Tandem Pore Domain; D016415:Sequence Alignment; D000097767:Mitogen-Activated Protein Kinase Kinase Kinase 11
chemical_list: D000199:Actins; D001426:Bacterial Proteins; D020930:MAP Kinase Kinase Kinases; D008840:Microfilament Proteins; D020929:Mitogen-Activated Protein Kinase Kinases; D015221:Potassium Channels; D024683:Potassium Channels, Tandem Pore Domain; D000097767:Mitogen-Activated Protein Kinase Kinase Kinase 11; C118290:KCNK6 protein, human; C492208:Kcnk6 protein, mouse; C118287:SipA protein, Salmonella