Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth

Proc Natl Acad Sci U S A. 2003 Jan 7;100(1):289-94. doi: 10.1073/pnas.0136913100. Epub 2002 Dec 27.

Abstract

Disrupted-in-Schizophrenia-1 (DISC-1) is a gene whose mutant truncation is associated with major psychiatric illness with a predominance of schizophrenic symptomatology. We have cloned and characterized rodent DISC-1. DISC-1 expression displays pronounced developmental regulation with the highest levels in late embryonic life when the cerebral cortex develops. In yeast two-hybrid analyses, DISC-1 interacts with a variety of cytoskeletal proteins. One of these, NudE-like (NUDEL), is associated with cortical development and is linked to LIS-1, the disease gene for a form of lissencephaly, a disorder of cortical development. The disease mutant form of DISC-1 fails to bind NUDEL. Expression of mutant, but not wild-type, DISC-1 in PC12 cells reduces neurite extension. As schizophrenia is thought to reflect defects in cortical development that are determined by cytoskeletal protein activities, the cellular disturbances we observe with mutant DISC-1 may be relevant to psychopathologic mechanisms.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Cloning, Molecular
  • Cysteine Endopeptidases
  • DNA Primers
  • Humans
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism*
  • Neurites / physiology*
  • Protein Binding
  • Rats
  • Recombinant Proteins / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Deletion*
  • Serine Endopeptidases / metabolism*
  • Subcellular Fractions / metabolism

Substances

  • DISC1 protein, human
  • DNA Primers
  • Disc1 protein, rat
  • Nerve Tissue Proteins
  • Recombinant Proteins
  • Serine Endopeptidases
  • Cysteine Endopeptidases
  • Ndel1 protein, rat