Cytogenetics and gene discovery in psychiatric disorders

B S Pickard, J K Millar, D J Porteous, W J Muir, D H R Blackwood

Research output: Contribution to journalArticle

25 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)81-88
Number of pages8
JournalPharmacogenomics Journal
Volume5
DOIs
Publication statusPublished - 25 Jan 2005

Keywords

  • cytogenetics
  • genomics
  • chromosomal translocation
  • haploinsufficiency
  • psychiatric illness
  • candidate gene
  • complex genetic disorders

Cite this

Pickard, B. S., Millar, J. K., Porteous, D. J., Muir, W. J., & Blackwood, D. H. R. (2005). Cytogenetics and gene discovery in psychiatric disorders. Pharmacogenomics Journal, 5, 81-88. https://doi.org/10.1038/sj.tpj.6500293