Candidate psychiatric illness genes identified in patients with pericentric inversions of chromosome 18

B. S. Pickard, M. P. Malloy, L. Clark, S. Lehellard, H. L. Ewald, O. Mors, D. J. Porteous, D. H. Blackwood, W. J. Muir

Research output: Contribution to journalArticlepeer-review


Both the long and short arms of chromosome 18 have been consistently identified as potential locations for schizophrenia and bipolar affective disorder susceptibility genes. We previously described the identification of two independent pericentric inversions of chromosome 18 [inv(18)(p11.31;q21.2) and inv(18)(p11.31;q21.1)] occurring in two small families in which carriers have been diagnosed with schizophrenia and bipolar affective disorder, respectively. Using fluorescence in situ hybridization on patient metaphase chromosomes we have identified the locations of all four chromosome breakpoints in the inversion carriers. Neither pericentric inversion results in a direct gene disruption. However, each inversion breakpoint has the potential to perturb local gene expression by position effect or by the separation of important regulatory (enhancer) sequences from the core gene sequences. Five genes in the localities of the breakpoints have been identified as good candidates for the genetic basis of psychiatric illness in these families; TTMA, a novel membrane spanning protein; TCF4, a basic helix-loop-helix transcription factor; DLGAP1, an interactor of the PSD-95 synaptic protein; and ARKL1 and ARKL2, novel members of the ubiquitin ligase gene family.
Original languageEnglish
Pages (from-to)37-44
Number of pages8
JournalPsychiatric Genetics
Issue number1
Publication statusPublished - 2005


  • Amino Acid Sequence Base Sequence Carrier State Chromosome Mapping *Chromosomes, Human, Pair 18 Consensus Sequence DNA Primers Family Humans In Situ Hybridization, Fluorescence Inversion, Chromosome/*genetics Molecular Sequence Data Psychotic Disorders/*genetics Reverse Transcriptase Polymerase Chain Reaction Sequence Alignment Sequence Homology, Amino Acid


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