The sperm epigenome and potential implications for the developing embryo

Reproduction. 2012 Jun;143(6):727-34. doi: 10.1530/REP-11-0450. Epub 2012 Apr 11.


Recent work in the field of male fertility has yielded significant increases in our understanding of the sperm epigenome and its potential role in embryonic development. These new findings have enabled a broad classification of a normal epigenetic state in the male gamete and have provided insight into the possible etiologies of some idiopathic male infertility cases. Histone retention and modification, protamine incorporation into the chromatin, DNA methylation, and spermatozoal RNA transcripts appear to play important roles in the epigenetic state of mature sperm. These epigenetic factors may reveal a historical record of spermatogenesis, portend future functions in embryogenesis, and help to elucidate mechanism of pluripotency. In contrast to the once held dogma regarding the importance of the paternal epigenome, the unique epigenetic landscape in sperm appears to serve more than the gamete itself and is likely influential in the developing embryo. In fact, growing evidence suggests that mature sperm provide appropriate epigenetic marks that drive specific genes toward activation and contribute to the pluripotent state of the embryonic cells. Although not definitive, the current literature provides evidence for the role of the sperm epigenome in the embryo. Future work must be focused on the characterization of epigenetic abnormalities commonly found in individuals with compromised fertility to further establish this role. Additionally, studies should target the effects of environment and aging on the sperm epigenetic program and subsequent fertility loss to determine the etiology of aberrant epigenetic profiles.

Publication types

  • Review

MeSH terms

  • Animals
  • DNA Methylation / physiology
  • Embryonic Development / genetics*
  • Embryonic Development / physiology
  • Epigenesis, Genetic / physiology*
  • Histones / genetics
  • Histones / metabolism
  • Humans
  • Male
  • Models, Biological
  • Protein Processing, Post-Translational / physiology
  • Spermatogenesis / genetics
  • Spermatogenesis / physiology
  • Spermatozoa / metabolism*


  • Histones