AI Article Synopsis

  • Primary microcephaly is linked to mutations in genes like WDR62 and KIF2A, but understanding its mechanisms is still challenging.
  • Research using mutant mice and human brain organoids showed that deleting WDR62 reduces brain and organoid size by affecting neural progenitor cells (NPCs), particularly outer radial glia (oRG).
  • The study uncovered that WDR62 works with CEP170 to affect cilium disassembly and NPC proliferation, suggesting that the disruption of this function contributes to microcephaly.

Article Abstract

Primary microcephaly is caused by mutations in genes encoding centrosomal proteins including WDR62 and KIF2A. However, mechanisms underlying human microcephaly remain elusive. By creating mutant mice and human cerebral organoids, here we found that WDR62 deletion resulted in a reduction in the size of mouse brains and organoids due to the disruption of neural progenitor cells (NPCs), including outer radial glia (oRG). WDR62 ablation led to retarded cilium disassembly, long cilium, and delayed cell cycle progression leading to decreased proliferation and premature differentiation of NPCs. Mechanistically, WDR62 interacts with and promotes CEP170's localization to the basal body of primary cilium, where CEP170 recruits microtubule-depolymerizing factor KIF2A to disassemble cilium. WDR62 depletion reduced KIF2A's basal body localization, and enhanced KIF2A expression partially rescued deficits in cilium length and NPC proliferation. Thus, modeling microcephaly with cerebral organoids and mice reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly, disruption of which contributes to microcephaly.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565620PMC
http://dx.doi.org/10.1038/s41467-019-10497-2DOI Listing

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