Polymorphic GGC repeat differentially regulates human reelin gene expression levels

A. M. Persico, P. Levitt, A. F. Pimenta

Research output: Contribution to journalArticlepeer-review


The human gene encoding Reelin (RELN), a pivotal protein in neurodevelopment, includes a polymorphic GGC repeat in its 5′ untranslated region (UTR). CHO cells transfected with constructs encompassing the RELN 5′UTR with 4-to-13 GGC repeats upstream of the luciferase reporter gene show declining luciferase activity with increasing GGC repeat number (P <0.005), as predicted by computer-based simulations. Conversely, RELN 5′UTR sequences boost reporter gene expression above control levels in neuronal SN56 and N2A cell lines, but 12- and 13-repeat alleles still yield 50-60% less luciferase activity compared to the more common 8- and 10-repeat alleles (P <0.0001). RELN "long" GGC alleles significantly blunt gene expression and may, through this effect, confer vulnerability to human disorders, such as schizophrenia and autism.

Original languageEnglish
Pages (from-to)1373-1382
Number of pages10
JournalJournal of Neural Transmission
Issue number10
Publication statusPublished - Oct 2006


  • Autism
  • Gene expression
  • Reelin
  • Schizophrenia
  • Transcription
  • Translation
  • Triplet repeat

ASJC Scopus subject areas

  • Neuroscience(all)


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