Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly

Proc Natl Acad Sci U S A. 2006 Oct 31;103(44):16520-5. doi: 10.1073/pnas.0603533103. Epub 2006 Oct 18.

Abstract

The telencephalic neuroepithelium (NE) of mammalian brain has an apical-basal polarity that is marked by the positioning of neural progenitors and adherens junctions on the apical/ventricular surface and the ascending of radial glia/progenitor fibers toward the pial/basal surface. The signaling pathway that establishes this apical-basal polarity of NE is not completely understood, but the Rho-family GTPase Cdc42 may play a critical role because it controls cadherin-based intercellular junctions and cell polarity in many species. Here, we tested this hypothesis by a conditional gene-targeting strategy by using the Foxg1-Cre line to delete Cdc42 in the telencephalic neural progenitors in mouse embryos. We found that Cdc42-deletion abolishes the apical localization of PAR6, aPKC, E-cadherin, beta-catenin, and Numb proteins in the NE, and severely impairs the extension of nestin-positive radial fibers. Consequently, neural progenitors were scattered throughout the entire depth of the NE, and the Cdc42-deficient telencephalon failed to bulge or separate into two cerebral hemispheres, resulting in holoprosencephaly. However, neither the midline expression of Sonic hedgehog nor the dorso-ventral patterning of the telencephalon was affected by Cdc42-deletion. Taken together, these results indicate that Cdc42 has an essential role in establishing the apical-basal polarity of the telencephalic NE, which is needed for the expansion and bifurcation of cerebral hemispheres.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Bone Morphogenetic Proteins / metabolism
  • Cell Polarity
  • Embryo, Mammalian / embryology
  • Embryo, Mammalian / metabolism
  • Embryo, Mammalian / pathology
  • Forkhead Transcription Factors / genetics
  • Forkhead Transcription Factors / metabolism
  • Hedgehog Proteins / genetics
  • Hedgehog Proteins / metabolism
  • Holoprosencephaly / embryology
  • Holoprosencephaly / genetics
  • Holoprosencephaly / metabolism*
  • Holoprosencephaly / pathology*
  • Mice
  • Mice, Knockout
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Signal Transduction
  • cdc42 GTP-Binding Protein / deficiency*
  • cdc42 GTP-Binding Protein / genetics
  • cdc42 GTP-Binding Protein / metabolism*

Substances

  • Bone Morphogenetic Proteins
  • Forkhead Transcription Factors
  • Foxg1 protein, mouse
  • Hedgehog Proteins
  • Nerve Tissue Proteins
  • Shh protein, mouse
  • cdc42 GTP-Binding Protein