Identification of genes from a schizophrenia-linked translocation breakpoint region

Colin Semple, Rebecca Devon, S Le Hellard, D J Porteous

Research output: Contribution to journalArticlepeer-review


The translocation t(1:11)(q42.1,q14.3) has previously been found to be linked with schizophrenia. Genes present at the chromosome 1 breakpoint have been investigated in some detail but little was known about genes in the chromosome 11 breakpoint region. Here we report a BAC clone contig encompassing 2.51 Mb around the chromosome 11 breakpoint, which was constructed computationally using draft genomic sequence data and existing mapping data for the region. The contig includes 26 clones and has led to the identification and relative ordering of 10 candidate genes in the region, including 2 novel transcripts. It constitutes a resource for polymorphic marker discovery and association studies to validate or reject candidate genes. Four candidate genes appear to be particularly promising based upon their proximity to the breakpoint and their likely functional roles. Three of these are involved in glutamatergic neurotransmission (the glutamate receptor GRM5, NAALADase II, and a close homolog), perturbation of which is one of the most widely held theories on the underlying biochemistry of schizophrenia. The 4th gene, tyrosinase, has been previously linked to schizophrenia through the cosegregation of oculocutaneous albinism with psychosis in several pedigrees.
Original languageEnglish
Pages (from-to)123-6
Number of pages4
Issue number1
Publication statusPublished - 2001


  • Antigens, Surface
  • Carboxypeptidases
  • Chromosome Mapping
  • Chromosomes, Artificial, Bacterial
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 11
  • Contig Mapping
  • Databases, Factual
  • Genetic Markers
  • Glutamate Carboxypeptidase II
  • Humans
  • Molecular Sequence Data
  • Monophenol Monooxygenase
  • Polymerase Chain Reaction
  • Schizophrenia
  • Translocation, Genetic


Dive into the research topics of 'Identification of genes from a schizophrenia-linked translocation breakpoint region'. Together they form a unique fingerprint.

Cite this