Sperm methylation profiles reveal features of epigenetic inheritance and evolution in primates

Cell. 2011 Sep 16;146(6):1029-41. doi: 10.1016/j.cell.2011.08.016.


During germ cell and preimplantation development, mammalian cells undergo nearly complete reprogramming of DNA methylation patterns. We profiled the methylomes of human and chimp sperm as a basis for comparison to methylation patterns of ESCs. Although the majority of promoters escape methylation in both ESCs and sperm, the corresponding hypomethylated regions show substantial structural differences. Repeat elements are heavily methylated in both germ and somatic cells; however, retrotransposons from several subfamilies evade methylation more effectively during male germ cell development, whereas other subfamilies show the opposite trend. Comparing methylomes of human and chimp sperm revealed a subset of differentially methylated promoters and strikingly divergent methylation in retrotransposon subfamilies, with an evolutionary impact that is apparent in the underlying genomic sequence. Thus, the features that determine DNA methylation patterns differ between male germ cells and somatic cells, and elements of these features have diverged between humans and chimpanzees.

Publication types

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

MeSH terms

  • Animals
  • Centromere / metabolism
  • DNA Methylation*
  • Embryonic Stem Cells / metabolism
  • Epigenesis, Genetic*
  • Genomics
  • Humans
  • Male
  • Pan troglodytes / genetics*
  • Primates / genetics
  • Promoter Regions, Genetic
  • Spermatozoa / metabolism

Associated data

  • GEO/GSE30340