Cytogenetics and gene discovery in psychiatric disorders
Pickard, B S and Millar, J K and Porteous, D J and Muir, W J and Blackwood, D H R (2005) Cytogenetics and gene discovery in psychiatric disorders. Pharmacogenomics Journal, 5. pp. 81-88. ISSN 1470-269X (https://doi.org/10.1038/sj.tpj.6500293)
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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.
ORCID iDs
Pickard, B S ORCID: https://orcid.org/0000-0002-2374-6329, Millar, J K, Porteous, D J, Muir, W J and Blackwood, D H R;-
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Item type: Article ID code: 51255 Dates: DateEvent25 January 2005Published19 October 2004AcceptedSubjects: Medicine > Internal medicine > Neuroscience. Biological psychiatry. Neuropsychiatry
Medicine > Therapeutics. PharmacologyDepartment: Faculty of Science > Strathclyde Institute of Pharmacy and Biomedical Sciences Depositing user: Pure Administrator Date deposited: 26 Jan 2015 15:13 Last modified: 20 Oct 2024 18:11 Related URLs: URI: https://strathprints.strath.ac.uk/id/eprint/51255