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 language | English (US) |
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Pages (from-to) | 223-227 |
Number of pages | 5 |
Journal | Psychiatric Genetics |
Volume | 15 |
Issue number | 3 |
DOIs | |
State | Published - Sep 2005 |
Keywords
- Bipolar disorder
- Inositol phosphate
- Lithium
- Phosphatidylinositol
- Schizophrenia
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
- Psychiatry and Mental health
- Biological Psychiatry