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 journalArticle

16 Citations (Scopus)

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. 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
Volume15
Issue number3
DOIs
StatePublished - Sep 2005

Fingerprint

Bipolar Disorder
Genetic Promoter Regions
Schizophrenia
Mutation
Gels
Nuclear Proteins
DNA Sequence Analysis
Gene Frequency
Case-Control Studies
Alleles
Binding Sites
Brain

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Genetics
  • Neuroscience(all)

Cite this

Screening of PIP5K2A promoter region for mutations in bipolar disorder and schizophrenia. / Stopkova, Pavla; Vevera, Jan; Paclt, Ivo; Zukov, Ilja; Papolos, Demitri F.; Saito, Takuya; Lachman, Herbert M.

In: Psychiatric Genetics, Vol. 15, No. 3, 09.2005, p. 223-227.

Research output: Contribution to journalArticle

Stopkova, Pavla ; Vevera, Jan ; Paclt, Ivo ; Zukov, Ilja ; Papolos, Demitri F. ; Saito, Takuya ; Lachman, Herbert M. / Screening of PIP5K2A promoter region for mutations in bipolar disorder and schizophrenia. In: Psychiatric Genetics. 2005 ; Vol. 15, No. 3. pp. 223-227.
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