X-inactivation and X-reactivation: epigenetic hallmarks of mammalian reproduction and pluripotent stem cells

Hum Genet. 2011 Aug;130(2):265-80. doi: 10.1007/s00439-011-1024-7. Epub 2011 Jun 12.

Abstract

X-chromosome inactivation is an epigenetic hallmark of mammalian development. Chromosome-wide regulation of the X-chromosome is essential in embryonic and germ cell development. In the male germline, the X-chromosome goes through meiotic sex chromosome inactivation, and the chromosome-wide silencing is maintained from meiosis into spermatids before the transmission to female embryos. In early female mouse embryos, X-inactivation is imprinted to occur on the paternal X-chromosome, representing the epigenetic programs acquired in both parental germlines. Recent advances revealed that the inactive X-chromosome in both females and males can be dissected into two elements: repeat elements versus unique coding genes. The inactive paternal X in female preimplantation embryos is reactivated in the inner cell mass of blastocysts in order to subsequently allow the random form of X-inactivation in the female embryo, by which both Xs have an equal chance of being inactivated. X-chromosome reactivation is regulated by pluripotency factors and also occurs in early female germ cells and in pluripotent stem cells, where X-reactivation is a stringent marker of naive ground state pluripotency. Here we summarize recent progress in the study of X-inactivation and X-reactivation during mammalian reproduction and development as well as in pluripotent stem cells.

Publication types

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

MeSH terms

  • Animals
  • Epigenesis, Genetic / genetics
  • Epigenesis, Genetic / physiology*
  • Female
  • Genomic Imprinting / physiology*
  • Germ Cells / physiology*
  • Humans
  • Male
  • Mammals
  • Models, Biological
  • Pluripotent Stem Cells / physiology*
  • RNA, Long Noncoding
  • RNA, Untranslated / physiology
  • Species Specificity
  • X Chromosome / genetics
  • X Chromosome / physiology*
  • X Chromosome Inactivation / genetics
  • X Chromosome Inactivation / physiology*

Substances

  • RNA, Long Noncoding
  • RNA, Untranslated
  • XIST non-coding RNA