Abstract
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.
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Acknowledgements
We acknowledge the assistance of Dr ML Yaspo in providing the BAC clone RP11-527H14. This work was supported by RIKEN BSI Funds, Grant-in-aid for scientific studies from the MEXT of Japan to TY and YI and CREST funds from the Japan Science and Technology Agency, Japan to TY.
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Meerabux, J., Ohba, H., Iwayama, Y. et al. Analysis of a t(18;21)(p11.1;p11.1) translocation in a family with schizophrenia. J Hum Genet 54, 386–391 (2009). https://doi.org/10.1038/jhg.2009.47
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DOI: https://doi.org/10.1038/jhg.2009.47
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