The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis

Nat Neurosci. 2004 Apr;7(4):364-72. doi: 10.1038/nn1210. Epub 2004 Mar 14.

Abstract

Of 11 genes involved in nonspecific X-linked mental retardation (MRX), three encode regulators or effectors of the Rho GTPases, suggesting an important role for Rho signaling in cognitive function. It remains unknown, however, how mutations in Rho-linked genes lead to MRX. Here we report that oligophrenin-1, a Rho-GTPase activating protein that is absent in a family affected with MRX, is required for dendritic spine morphogenesis. Using RNA interference and antisense RNA approaches, we show that knock-down of oligophrenin-1 levels in CA1 neurons in rat hippocampal slices significantly decreases spine length. This phenotype can be recapitulated using an activated form of RhoA and rescued by inhibiting Rho-kinase, indicating that reduced oligophrenin-1 levels affect spine length by increasing RhoA and Rho-kinase activities. We further demonstrate an interaction between oligophrenin-1 and the postsynaptic adaptor protein Homer. Our findings provide the first insight into how mutations in a Rho-linked MRX gene may compromise neuronal function.

Publication types

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

MeSH terms

  • Animals
  • Cell Size / physiology
  • Cytoskeletal Proteins / deficiency
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / metabolism*
  • Dendrites / metabolism
  • Down-Regulation
  • GTPase-Activating Proteins / deficiency
  • GTPase-Activating Proteins / genetics
  • GTPase-Activating Proteins / metabolism*
  • Hippocampus / cytology
  • Hippocampus / growth & development*
  • Hippocampus / metabolism*
  • Mental Retardation, X-Linked / genetics
  • Mental Retardation, X-Linked / metabolism*
  • Mice
  • Morphogenesis
  • Neurites / metabolism*
  • Neurons / cytology
  • Neurons / metabolism*
  • Nuclear Proteins / deficiency
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Organ Culture Techniques
  • RNA Interference / physiology
  • RNA, Antisense / physiology
  • Rats
  • Synapses / metabolism*
  • Transfection

Substances

  • Cytoskeletal Proteins
  • GTPase-Activating Proteins
  • Nuclear Proteins
  • Ophn1 protein, mouse
  • RNA, Antisense