Establishment and functions of DNA methylation in the germline

Epigenomics. 2016 Oct;8(10):1399-1413. doi: 10.2217/epi-2016-0056. Epub 2016 Sep 23.


Epigenetic modifications established during gametogenesis regulate transcription and other nuclear processes in gametes, but also have influences in the zygote, embryo and postnatal life. This is best understood for DNA methylation which, established at discrete regions of the oocyte and sperm genomes, governs genomic imprinting. In this review, we describe how imprinting has informed our understanding of de novo DNA methylation mechanisms, highlight how recent genome-wide profiling studies have provided unprecedented insights into establishment of the sperm and oocyte methylomes and consider the fate and function of gametic methylation and other epigenetic modifications after fertilization.

Keywords: DNA methylation; embryo; imprinting; oogenesis; spermatogenesis; transgenerational inheritance.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • DNA Methylation*
  • Genomic Imprinting*
  • Germ Cells / metabolism*
  • Histone Code
  • Humans