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Cytogenetics and gene discovery in psychiatric disorders

The Pharmacogenomics Journal volume 5, pages 81–88 (2005)Cite this article

Abstract

The disruption of genes by balanced translocations and other rare germline chromosomal abnormalities has played an important part in the discovery of many common Mendelian disorder genes, somatic oncogenes and tumour supressors. A search of published literature has identified 15 genes whose genomic sequences are directly disrupted by translocation breakpoints in individuals with neuropsychiatric illness. In these cases, it is reasonable to hypothesise that haploinsufficiency is a major factor contributing to illness. These findings suggest that the predicted polygenic nature of psychiatric illness may not represent the complete picture; genes of large individual effect appear to exist. Cytogenetic events may provide important insights into neurochemical pathways and cellular processes critical for the development of complex psychiatric phenotypes in the population at large.

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Authors and Affiliations

  1. Medical Genetics, School of Molecular and Clinical Medicine, Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Edinburgh, UK

    B S Pickard, J K Millar & D J Porteous

  2. Psychiatry, School of Molecular and Clinical Medicine, University of Edinburgh, Kennedy Tower, Royal Edinburgh Hospital, Morningside Park, Edinburgh, UK

    W J Muir & D H R Blackwood

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  1. B S Pickard
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  2. J K Millar
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  3. D J Porteous
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  4. W J Muir
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Correspondence to B S Pickard.

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Pickard, B., Millar, J., Porteous, D. et al. Cytogenetics and gene discovery in psychiatric disorders. Pharmacogenomics J 5, 81–88 (2005). https://doi.org/10.1038/sj.tpj.6500293

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