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Updated: Feb 1, 2026

DiOLISTIC Labeling of Neurons from Rodent and Non-human Primate Brain Slices
Published on: July 6, 2010
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration
Adam C O'Neill1, Christina Kyrousi2, Johannes Klaus2
1Department of Women's and Children's Health, University of Otago, Dunedin, New Zealand; Institute of Stem Cell Research, Helmholtz Center, Munich, Germany; Physiological Genomics, Biomedical Center Ludwig-Maximilians-Universitaet, Munich, Germany.
Abstract:
The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that has rendered the brain susceptible to certain neurodevelopmental and neuropsychiatric conditions. We analyzed the exomes of 65 patients with the structural brain malformation periventricular nodular heterotopia (PH). De novo coding variants were observed in excess in genes defining a transcriptomic signature of basal radial glia, a cell type linked to brain evolution. In addition, we located two variants in human isoforms of two genes that have no ortholog in mice. Modulating the levels of one of these isoforms for the gene PLEKHG6 demonstrated its role in regulating neuroprogenitor differentiation and neuronal migration via RhoA, with phenotypic recapitulation of PH in human cerebral organoids. This suggests that this PLEKHG6 isoform is an example of a primate-specific genomic element supporting brain development.
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