Germline and somatic imprinting in the nonhuman primate highlights species differences in oocyte methylation

Genome Res. 2015 May;25(5):611-23. doi: 10.1101/gr.183301.114. Epub 2015 Apr 10.


Genomic imprinting is an epigenetic mechanism resulting in parental allele-specific gene expression. Defects in normal imprinting are found in cancer, assisted reproductive technologies, and several human syndromes. In mouse models, germline-derived DNA methylation is shown to regulate imprinting. Though imprinting is largely conserved between mammals, species- and tissue-specific domains of imprinted expression exist. Using the cynomolgus macaque (Macaca fascicularis) to assess primate-specific imprinting, we present a comprehensive view of tissue-specific imprinted expression and DNA methylation at established imprinted gene clusters. For example, like mouse and unlike human, macaque IGF2R is consistently imprinted, and the PLAGL1, INPP5F transcript variant 2, and PEG3 imprinting control regions are not methylated in the macaque germline but acquire this post-fertilization. Methylome data from human early embryos appear to support this finding. These suggest fundamental differences in imprinting control mechanisms between primate species and rodents at some imprinted domains, with implications for our understanding of the epigenetic programming process in humans and its influence on disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • DNA Methylation*
  • DNA-Binding Proteins / genetics
  • Female
  • Genomic Imprinting*
  • Humans
  • Inositol Polyphosphate 5-Phosphatases
  • Kruppel-Like Transcription Factors / genetics
  • Macaca fascicularis
  • Male
  • Mice
  • Molecular Sequence Data
  • Oocytes / metabolism*
  • Organ Specificity
  • Phosphoric Monoester Hydrolases / genetics
  • RNA, Long Noncoding / genetics
  • Species Specificity


  • DNA-Binding Proteins
  • Kruppel-Like Transcription Factors
  • PEG3 protein, human
  • PLAG1 protein, human
  • RNA, Long Noncoding
  • Phosphoric Monoester Hydrolases
  • INPP5F protein, human
  • Inositol Polyphosphate 5-Phosphatases

Associated data

  • GENBANK/KP238484
  • GENBANK/KP238485
  • GENBANK/KP238486
  • GENBANK/KP238487