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Identification of genes associated with cortical malformation using a transposon-mediated somatic mutagenesis screen

I-Ling Lu1, Chien Chen2,3, Chien-Yi Tung4,5

  • 1Institute of Brain Science, National Yang-Ming University, Taipei, 112, Taiwan.

Nature Communications
|June 29, 2018
PubMed

Insights

Researchers identified 33 new candidate genes for malformations of cortical development (MCDs) using a novel genetic screen. These findings advance understanding of brain development disorders and may reveal new therapeutic targets.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Malformations of cortical development (MCDs) arise from genetic mutations affecting neuronal development.
  • Many causative genes for MCDs remain unknown, hindering diagnosis and treatment.

Purpose of the Study:

  • To identify novel genes involved in cortical development and MCD pathogenesis.
  • To develop a genetic screening method for discovering MCD-related genes.

Main Methods:

  • Developed a transposon-mediated somatic mutagenesis screen in mice using in utero electroporation.
  • Identified candidate genes based on the failure of mutant neuronal precursors to migrate correctly.
  • Validated candidate genes using RNAi and CRISPR/Cas9 gene editing.
  • Analyzed somatic mutations in human focal cortical dysplasia brain tissue.

Main Results:

  • Identified 33 candidate genes associated with MCDs.
  • Disruption of candidate genes led to neuronal migration defects resembling human cortical dysplasia.
  • Found enrichment of mutations in candidate genes within human focal cortical dysplasia samples.

Conclusions:

  • The developed genetic screen effectively identifies novel genes implicated in cortical development and MCDs.
  • The identified genes hold potential for understanding MCD pathogenesis and clinical relevance.

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