H4K20me3 marks distal intergenic and repetitive regions in human mature spermatozoa

Development. 2021 Aug 1;148(15):dev196477. doi: 10.1242/dev.196477. Epub 2021 Aug 3.

Abstract

Sperm histones represent an essential part of the paternally transmitted epigenome, but uncertainty exists about the role of those remaining in non-coding and repetitive DNA. We therefore analyzed the genome-wide distribution of the heterochromatic marker H4K20me3 in human sperm and somatic (K562) cells. To specify the function of sperm histones, we compared all H4K20me3-containing and -free loci in the sperm genome. Sperm and somatic cells possessed a very similar H4K20me3 distribution: H4K20me3 peaks occurred mostly in distal intergenic regions and repetitive gene clusters (in particular genes encoding odorant-binding factors and zinc-finger antiviral proteins). In both cell types, H4K20me3 peaks were enriched in LINEs, ERVs, satellite DNA and low complexity repeats. In contrast, H4K20me3-free nucleosomes occurred more frequently in genic regions (in particular promoters, exons, 5'-UTR and 3'-UTR) and were enriched in genes encoding developmental factors (in particular transcription activators and repressors). H4K20me3-free nucleosomes were also detected in substantial quantities in distal intergenic regions and were enriched in SINEs. Thus, evidence suggests that paternally transmitted histones may have a dual purpose: maintenance and regulation of heterochromatin and guidance towards transcription of euchromatin.

Keywords: H4K20me3; Human; Paternal epigenetic inheritance; Sperm histones.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics
  • 5' Untranslated Regions / genetics
  • Cell Line, Tumor
  • DNA / genetics
  • Exons / genetics
  • Genome / genetics
  • Heterochromatin / genetics
  • Histones / genetics*
  • Humans
  • K562 Cells
  • Male
  • Nucleosomes / genetics
  • Promoter Regions, Genetic / genetics
  • Repetitive Sequences, Nucleic Acid / genetics*
  • Spermatozoa / physiology*
  • Transcription Factors / genetics
  • Transcription, Genetic / genetics

Substances

  • 3' Untranslated Regions
  • 5' Untranslated Regions
  • Heterochromatin
  • Histones
  • Nucleosomes
  • Transcription Factors
  • DNA