Journal
JOURNAL OF HUMAN GENETICS
Volume 54, Issue 7, Pages 386-391Publisher
SPRINGERNATURE
DOI: 10.1038/jhg.2009.47
Keywords
bacterial artificial chromosome (BAC); breakpoint; C18orf1; chromosome 18; chromosome 21; fluorescence in situ hybridization (FISH); position effect; quantitative RT-PCR
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Funding
- RIKEN BSI Funds
- MEXT of Japan
- CREST funds
- Japan Science and Technology Agency, Japan
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It is suggested that chromosome 18p11 is a susceptibility region for both bipolar disorder and schizophrenia. Aiming to identify susceptibility gene(s), we investigated a family whose members have either schizophrenia or schizophrenia-spectrum psychosis and carried a t(18;21)(p11.1;p11.1) translocation. Fluorescence in situ hybridization showed that the breakpoint on chromosome 21 was localized to a bacterial artificial chromosome (BAC) clone RP11-2503J9, which contained coding sequences for transmembrane phosphatase with tensin homology, although this gene was not disrupted. On chromosome 18p, the break point was narrowed to BAC clone RP11-527H14. In silico sequence analysis of this clone identified possible pseudo genes and gene fragments but no intact genes. RP11-527H14 also showed sites of cross hybridization, including 21p11.1. To test for a position effect on 18p11 sequences translocated to 21p11, we performed quantitative RT-PCR to measure the expression of the candidate gene C18orf1 in translocation carriers, but found no significant differences from controls in lymphoblastoid cells. Journal of Human Genetics (2009) 54, 386-391; doi: 10.1038/jhg.2009.47; published online 22 May 2009
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