Sex chromosome inactivation in germ cells: emerging roles of DNA damage response pathways

Cell Mol Life Sci. 2012 Aug;69(15):2559-72. doi: 10.1007/s00018-012-0941-5. Epub 2012 Mar 2.

Abstract

Sex chromosome inactivation in male germ cells is a paradigm of epigenetic programming during sexual reproduction. Recent progress has revealed the underlying mechanisms of sex chromosome inactivation in male meiosis. The trigger of chromosome-wide silencing is activation of the DNA damage response (DDR) pathway, which is centered on the mediator of DNA damage checkpoint 1 (MDC1), a binding partner of phosphorylated histone H2AX (γH2AX). This DDR pathway shares features with the somatic DDR pathway recognizing DNA replication stress in the S phase. Additionally, it is likely to be distinct from the DDR pathway that recognizes meiosis-specific double-strand breaks. This review article extensively discusses the underlying mechanism of sex chromosome inactivation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Animals
  • Cell Cycle Proteins
  • DNA Damage / genetics*
  • DNA Damage / physiology
  • DNA Repair
  • Epigenesis, Genetic
  • Female
  • Germ Cells / metabolism
  • Histones / metabolism
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Intracellular Signaling Peptides and Proteins / metabolism
  • Male
  • Meiosis / genetics
  • Meiosis / physiology
  • Models, Biological
  • Models, Genetic
  • Signal Transduction
  • X Chromosome Inactivation / genetics*
  • X Chromosome Inactivation / physiology

Substances

  • Adaptor Proteins, Signal Transducing
  • Cell Cycle Proteins
  • Histones
  • Intracellular Signaling Peptides and Proteins
  • MDC1 protein, mouse