title: Evidence for association of schizophrenia with genetic variation in the 8p21.3 gene, PPP3CC, encoding the calcineurin gamma subunit.
abstract: Schizophrenia is a severe psychiatric disorder characterized by a complex mode of inheritance. Forebrain-specific CNB knockout mice display a spectrum of behavioral abnormalities related to altered behaviors observed in schizophrenia patients. To examine whether calcineurin dysfunction is involved in schizophrenia etiology, we undertook studies of an initial subset of calcineurin-related genes, prioritizing ones that map to loci previously implicated in schizophrenia by linkage studies. Transmission disequilibrium studies in a large sample of affected families detected association of the PPP3CC gene, which encodes the calcineurin gamma catalytic subunit, with disease. Our results identify PPP3CC, located at 8p21.3, as a potential schizophrenia susceptibility gene and support the proposal that alterations in calcineurin signaling contribute to schizophrenia pathogenesis.
authors.affiliation: Howard Hughes Medical Institute, RIKEN/Massachusetts Institute of Technology Neuroscience Research Center, The Picower Center for Learning and Memory, Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
authors.forename: David J
authors.initials: DJ
authors.lastname: Gerber
authors.forename: Diana
authors.initials: D
authors.lastname: Hall
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Miyakawa
authors.forename: Sandra
authors.initials: S
authors.lastname: Demars
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Gogos
authors.forename: Maria
authors.initials: M
authors.lastname: Karayiorgou
authors.forename: Susumu
authors.initials: S
authors.lastname: Tonegawa
mesh_terms: D000328:Adult; D001483:Base Sequence; D019703:Calcineurin / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D011110:Polymorphism, Genetic; D021122:Protein Subunits; D012559:Schizophrenia / Q000209:etiology / Q000235:genetics*; D015398:Signal Transduction
chemical_list: D018076:DNA, Complementary; D021122:Protein Subunits; D019703:Calcineurin