title: The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia.
abstract: Mutations in various ion channel genes are responsible for neuromuscular and other neurological disorders. We have previously identified the human small conductance calcium-activated potassium channel gene (hSKCa3) which has two tandemly arranged CAG repeats in its 5' region. Here we have isolated the first genomic clones containing the gene and have shown that both repeats are in exon 1. Homology to the previously localized sequence tagged site G16005 indicated that the gene may be on chromosome 22q, however using polymerase chain reaction amplification of somatic cell hybrid DNA and fluorescence in situ hybridization of two P1 artificial chromosome clones, we physically localized the gene to chromosome 1q21.3. We previously found an association between the highly polymorphic second (more 3') CAG repeat and schizophrenia in 98 patients and 117 controls. We have now genotyped an additional 19 patients with schizophrenia and have performed statistical analyses on the entire group of patients and controls to investigate the possible effect of age of onset, family history, and gender of the patients on the observed association. None of these factors were found to influence the results. Both CAG repeats have been typed in 86 bipolar I disorder patients, and no significant difference in allele distribution was observed between our bipolar disorder patients and controls.
authors.affiliation: Institut für Humangenetik and Anthropologie, Universität Freiburg, Germany.
authors.forename: O
authors.initials: O
authors.lastname: Wittekindt
authors.forename: A
authors.initials: A
authors.lastname: Jauch
authors.forename: E
authors.initials: E
authors.lastname: Burgert
authors.forename: L
authors.initials: L
authors.lastname: Schärer
authors.forename: H
authors.initials: H
authors.lastname: Holtgreve-Grez
authors.forename: G
authors.initials: G
authors.lastname: Yvert
authors.forename: G
authors.initials: G
authors.lastname: Imbert
authors.forename: J
authors.initials: J
authors.lastname: Zimmer
authors.forename: M R
authors.initials: MR
authors.lastname: Hoehe
authors.forename: J P
authors.initials: JP
authors.lastname: Macher
authors.forename: P
authors.initials: P
authors.lastname: Chiaroni
authors.forename: D
authors.initials: D
authors.lastname: van Calker
authors.forename: M A
authors.initials: MA
authors.lastname: Crocq
authors.forename: D J
authors.initials: DJ
authors.lastname: Morris-Rosendahl
mesh_terms: D000818:Animals; D017101:Bacteriophage P1 / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D001714:Bipolar Disorder / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003001:Cloning, Molecular; D006224:Cricetinae; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D008040:Genetic Linkage / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D006822:Hybrid Cells / Q000166:cytology; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping; D016133:Polymerase Chain Reaction; D015221:Potassium Channels / Q000235:genetics* / Q000302:isolation & purification; D024681:Potassium Channels, Calcium-Activated; D012559:Schizophrenia / Q000235:genetics*; D051640:Small-Conductance Calcium-Activated Potassium Channels; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: C406328:KCNN3 protein, human; D015221:Potassium Channels; D024681:Potassium Channels, Calcium-Activated; D051640:Small-Conductance Calcium-Activated Potassium Channels