Involvement of Atm and Trp53 in neural cell loss due to Terf2 inactivation during mouse brain development

Jusik Kim1,2, Inseo Choi1,2, Youngsoo Lee3,4

  • 1Genomic Instability Research Center, School of Medicine, Ajou University, Suwon, 16499, Republic of Korea.

Insights

The study reveals that ATM and TP53 are crucial for maintaining genomic stability during mouse brain development after TERF2 inactivation. Their absence leads to abnormal neural cell formation and disrupted brain structures.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Genomic integrity is vital for neurodevelopment and preventing neurological diseases.
  • ATM, ATR, and TP53 pathways are known to manage DNA damage in neural cells during neurogenesis.

Purpose of the Study:

  • To investigate the roles of ATM and ATR in genomic instability caused by TERF2 inactivation during mouse brain development.
  • To understand the specific contributions of ATM and TP53 to neural cell survival and brain structure maintenance.

Main Methods:

  • Selective inactivation of the TERF2 gene in neural progenitors in mice.
  • Analysis of brain development and cell survival in Atm, Atr, Trp53, and Lig4 deficient backgrounds.
  • Assessment of genomic instability and telomere homeostasis.

Main Results:

  • TERF2 inactivation in neural progenitors caused severe brain structure loss via apoptosis.
  • This loss was partially rescued by Atm or Trp53 deficiency, but not Atr deficiency.
  • Atm deficiency led to incomplete brain structures; Trp53 deficiency resulted in multinucleated giant neural cells, which were absent in Lig4 deficiency.

Conclusions:

  • ATM and TP53 are essential for maintaining telomere homeostasis and monitoring telomere dysfunction during neurogenesis.
  • The findings highlight the critical roles of ATM and TP53 in ensuring genomic stability for proper brain development.