Genes & Development · 2011 · 99 citations · 38 references
Life SciencesDevelopmental BiologyNeuroscienceDevelopmental NeurobiologyDevelopmental NeuroscienceGene ExpressionDevelopmental Signaling PathwaysMolecular NeurogeneticsNeural DevelopmentNeurodevelopmental GeneticsNeurogenesisWnt SignalingBeta-catenin RegulationCanonical Wnt PathwayDevelopmental NeurogenesisEmbryonic NeurogenesisMicrocephaly MutationsNeuronal Migration DefectsWnt In EmbryogenesisWnt Signaling Disruption
Autosomal recessive primary microcephaly (MCPH) is a neural developmental disorder in which patients display significantly reduced brain size. Mutations in Abnormal Spindle Microcephaly (ASPM) are the most common cause of MCPH. Here, we investigate the underlying functions of Aspm in brain development and find that Aspm expression is critical for proper neurogenesis and neuronal migration. The Wnt signaling pathway is known for its roles in embryogenesis, and genome-wide siRNA screens indicate that ASPM is a positive regulator of Wnt signaling. We demonstrate that knockdown of Aspm results in decreased Wnt-mediated transcription, and that expression of stabilized β-catenin can rescue this deficit. Finally, coexpression of stabilized β-catenin can rescue defects observed upon in vivo knockdown of Aspm. Our findings provide an impetus to further explore Aspm's role in facilitating Wnt-mediated neurogenesis programs, which may contribute to psychiatric illness etiology when perturbed.
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Chris Englund, Andy Fink, Charmaine Lau et al. · Journal of Neuroscience · 2005 · 1.3K citations · Full text