TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

Nat Commun. 2019 May 13;10(1):2129. doi: 10.1038/s41467-019-10081-8.

Abstract

De novo heterozygous missense variants in the γ-tubulin gene TUBG1 have been linked to human malformations of cortical development associated with intellectual disability and epilepsy. Here, we investigated through in-utero electroporation and in-vivo studies, how four of these variants affect cortical development. We show that TUBG1 mutants affect neuronal positioning, disrupting the locomotion of new-born neurons but without affecting progenitors' proliferation. We further demonstrate that pathogenic TUBG1 variants are linked to reduced microtubule dynamics but without major structural nor functional centrosome defects in subject-derived fibroblasts. Additionally, we developed a knock-in Tubg1Y92C/+ mouse model and assessed consequences of the mutation. Although centrosomal positioning in bipolar neurons is correct, they fail to initiate locomotion. Furthermore, Tubg1Y92C/+ animals show neuroanatomical and behavioral defects and increased epileptic cortical activity. We show that Tubg1Y92C/+ mice partially mimic the human phenotype and therefore represent a relevant model for further investigations of the physiopathology of cortical malformations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Video-Audio Media

MeSH terms

  • Animals
  • Behavior, Animal
  • Cell Movement / genetics
  • Centrosome / metabolism
  • Cerebral Cortex / abnormalities
  • Cerebral Cortex / cytology
  • Cerebral Cortex / diagnostic imaging
  • Disease Models, Animal
  • Embryo, Mammalian
  • Epilepsy / genetics
  • Female
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Fibroblasts / ultrastructure
  • Gene Knock-In Techniques
  • Genetic Predisposition to Disease
  • HeLa Cells
  • Humans
  • Intravital Microscopy
  • Male
  • Malformations of Cortical Development / genetics*
  • Mice
  • Mice, Transgenic
  • Microscopy, Confocal
  • Microscopy, Electron
  • Microtubules / genetics
  • Microtubules / metabolism*
  • Mutation, Missense
  • Neurogenesis / genetics*
  • Neurons / physiology*
  • Tubulin / genetics*

Substances

  • TUBG1 protein, human
  • TUBG1 protein, mouse
  • Tubulin