Screening of PIP5K2A promoter region for mutations in bipolar disorder and schizophrenia

Pavla Stopkova, Jan Vevera, Ivo Paclt, Ilja Zukov, Demitri F. Papolos, Takuya Saito, Herbert M. Lachman

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


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. Conclusion: The data suggest that homozygosity for -1007T could be a rare genetic factor in the development of schizophrenia.

Original languageEnglish (US)
Pages (from-to)223-227
Number of pages5
JournalPsychiatric Genetics
Issue number3
StatePublished - Sep 2005


  • Bipolar disorder
  • Inositol phosphate
  • Lithium
  • Phosphatidylinositol
  • Schizophrenia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Psychiatry and Mental health
  • Biological Psychiatry


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