title: Screening of PIP5K2A promoter region for mutations in bipolar disorder and schizophrenia.
abstract: OBJECTIVE
  To analyze the promoter region of PIP5K2A, a phosphatidylinositol 4-phosphate 5-kinase that maps to 10p in a region linked to both bipolar disorder and schizophrenia.
  
  
  METHODS
  The promoter region was screened by single-strand conformation polymorphism analysis and DNA sequencing. Allele frequencies were determined in a case-control study. Functional significance of a promoter variant was determined by electromobility gel shift assays.
  
  
  RESULTS
  Homozygosity for a rare putative promoter variant, -1007C-->T, was found in only two patients with schizophrenia and in no controls or bipolar patients. The variant forms a 7/8 base match for the binding site of Oct-1, a member of the POU homeodomain family. Electromobility gel shift assays revealed increased binding of a brain-specific nuclear protein to the -1007T allele compared with -1007C.
  
  
  CONCLUSIONS
  The data suggest that homozygosity for -1007T could be a rare genetic factor in the development of schizophrenia.
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Division of Psychiatry Research, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
authors.forename: Pavla
authors.initials: P
authors.lastname: Stopkova
authors.forename: Jan
authors.initials: J
authors.lastname: Vevera
authors.forename: Ivo
authors.initials: I
authors.lastname: Paclt
authors.forename: Ilja
authors.initials: I
authors.lastname: Zukov
authors.forename: Demitri F
authors.initials: DF
authors.lastname: Papolos
authors.forename: Takuya
authors.initials: T
authors.lastname: Saito
authors.forename: Herbert M
authors.initials: HM
authors.lastname: Lachman
mesh_terms: D001483:Base Sequence; D001714:Bipolar Disorder / Q000235:genetics*; D017931:DNA Primers; D024202:Electrophoretic Mobility Shift Assay; D006801:Humans; D009154:Mutation; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D017931:DNA Primers; D019869:Phosphatidylinositol 3-Kinases