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  A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

O'Neill, A. C., Kyrousi, C., Klaus, J., Leventer, R. J., Kirk, E. P., Fry, A., et al. (2018). A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. CELL REPORTS, 25(10), 2729-2741 e6. doi:10.1016/j.celrep.2018.11.029.

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1-s2.0-S2211124718317753-main.pdf (Publisher version), 7MB
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 Creators:
O'Neill, Adam C.1, Author
Kyrousi, Christina2, Author           
Klaus, Johannes2, Author           
Leventer, Richard J.1, Author
Kirk, Edwin P.1, Author
Fry, Andrew1, Author
Pilz, Daniela T.1, Author
Morgan, Tim1, Author
Jenkins, Zandra A.1, Author
Drukker, Micha1, Author
Berkovic, Samuel F.1, Author
Scheffer, Ingrid E.1, Author
Guerrini, Renzo1, Author
Markie, David M.1, Author
Goetz, Magdalena1, Author
Cappello, Silvia1, 2, Author           
Robertson, Stephen P.1, Author
Affiliations:
1External Organizations, ou_persistent22              
2Max Planck Research Group Developmental Neurobiology (Silvia Cappello), Max Planck Institute of Psychiatry, Max Planck Society, ou_2173645              

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Free keywords: RADIAL GLIAL-CELLS; PERIVENTRICULAR NODULAR HETEROTOPIA; OUTER SUBVENTRICULAR ZONE; CEREBRAL-CORTEX; NEURAL PROGENITORS; MUTATIONS; MOUSE; GENERATION; FRAMEWORK; NEOCORTEXCell Biology;
 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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Language(s): eng - English
 Dates: 2018
 Publication Status: Published in print
 Pages: 19
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Title: CELL REPORTS
Source Genre: Journal
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Publ. Info: 50 HAMPSHIRE ST, FLOOR 5, CAMBRIDGE, MA 02139 USA : CELL PRESS
Pages: - Volume / Issue: 25 (10) Sequence Number: - Start / End Page: 2729 - 2741 e6 Identifier: ISSN: 2211-1247