Requirement for DNA ligase IV during embryonic neuronal development

J Neurosci. 2011 Jul 6;31(27):10088-100. doi: 10.1523/JNEUROSCI.1324-11.2011.

Abstract

The embryonic ventricular and subventricular zones (VZ/SVZ) contain the neuronal stem and progenitor cells and undergo rapid proliferation. The intermediate zone (IZ) contains nonreplicating, differentiated cells. The VZ/SVZ is hypersensitive to radiation-induced apoptosis. Ablation of DNA non-homologous end-joining (NHEJ) proteins, XRCC4 or DNA ligase IV (LigIV), confers ataxia telangiectasia mutated (ATM)-dependent apoptosis predominantly in the IZ. We examine the mechanistic basis underlying these distinct sensitivities using a viable LigIV (Lig4(Y288C)) mouse, which permits an examination of the DNA damage responses in the embryonic and adult brain. Via combined analysis of DNA breakage, apoptosis, and cell-cycle checkpoint control in tissues, we show that apoptosis in the VZ/SVZ and IZ is activated by low numbers of DNA double-strand breaks (DSBs). Unexpectedly, high sensitivity in the VZ/SVZ arises from sensitive activation of ATM-dependent apoptosis plus an ATM-independent process. In contrast, the IZ appears to be hypersensitive to persistent DSBs. NHEJ functions efficiently in both compartments. The VZ/SVZ and IZ regions incur high endogenous DNA breakage, which correlates with VZ proliferation. We demonstrate a functional G(2)/M checkpoint in VZ/SVZ cells and show that it is not activated by low numbers of DSBs, allowing damaged VZ/SVZ cells to transit into the IZ. We propose a novel model in which microcephaly in LIG4 syndrome arises from sensitive apoptotic induction from persisting DSBs in the IZ, which arise from high endogenous breakage in the VZ/SVZ and transit of damaged cells to the IZ. The VZ/SVZ, in contrast, is highly sensitive to acute radiation-induced DSB formation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Animals
  • Animals, Newborn
  • Apoptosis / genetics
  • Apoptosis / physiology
  • Apoptosis / radiation effects
  • Ataxia Telangiectasia Mutated Proteins
  • Bromodeoxyuridine / metabolism
  • Cell Cycle / genetics
  • Cell Cycle Proteins
  • Cell Proliferation / radiation effects
  • Cerebral Ventricles / cytology*
  • Cerebral Ventricles / embryology*
  • Cerebral Ventricles / radiation effects
  • Chromosomal Proteins, Non-Histone / metabolism
  • Cysteine / genetics
  • DNA Breaks, Double-Stranded / radiation effects
  • DNA Ligase ATP
  • DNA Ligases / genetics
  • DNA Ligases / metabolism*
  • DNA-Binding Proteins / deficiency
  • DNA-Binding Proteins / metabolism
  • Embryo, Mammalian
  • Embryonic Development* / genetics
  • Embryonic Development* / physiology
  • Gene Expression Regulation, Developmental / genetics
  • Gene Expression Regulation, Developmental / radiation effects
  • Histones / metabolism
  • In Situ Nick-End Labeling / methods
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Models, Biological
  • Mutation / genetics
  • Neural Stem Cells / physiology
  • Neural Stem Cells / radiation effects
  • Neurons / physiology*
  • Neurons / radiation effects
  • Protein Serine-Threonine Kinases / deficiency
  • Radiation, Ionizing
  • T-Box Domain Proteins / metabolism
  • Tubulin / metabolism
  • Tumor Suppressor Proteins / deficiency
  • Tumor Suppressor p53-Binding Protein 1
  • Tyrosine / genetics

Substances

  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • Eomes protein, mouse
  • Histones
  • T-Box Domain Proteins
  • Trp53bp1 protein, mouse
  • Tubulin
  • Tumor Suppressor Proteins
  • Tumor Suppressor p53-Binding Protein 1
  • beta3 tubulin, mouse
  • Tyrosine
  • Ataxia Telangiectasia Mutated Proteins
  • Atm protein, mouse
  • Protein Serine-Threonine Kinases
  • DNA Ligases
  • DNA Ligase ATP
  • Bromodeoxyuridine
  • Cysteine