Epigenetic Pattern on the Human Y Chromosome Is Evolutionarily Conserved

PLoS One. 2016 Jan 13;11(1):e0146402. doi: 10.1371/journal.pone.0146402. eCollection 2016.

Abstract

DNA methylation plays an important role for mammalian development. However, it is unclear whether the DNA methylation pattern is evolutionarily conserved. The Y chromosome serves as a powerful tool for the study of human evolution because it is transferred between males. In this study, based on deep-rooted pedigrees and the latest Y chromosome phylogenetic tree, we performed epigenetic pattern analysis of the Y chromosome from 72 donors. By comparing their respective DNA methylation level, we found that the DNA methylation pattern on the Y chromosome was stable among family members and haplogroups. Interestingly, two haplogroup-specific methylation sites were found, which were both genotype-dependent. Moreover, the African and Asian samples also had similar DNA methylation pattern with a remote divergence time. Our findings indicated that the DNA methylation pattern on the Y chromosome was conservative during human male history.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Y / genetics*
  • Conserved Sequence*
  • DNA Methylation / genetics
  • Epigenesis, Genetic*
  • Evolution, Molecular*
  • Family
  • Geography
  • Haplotypes / genetics
  • Humans
  • Inheritance Patterns / genetics
  • Male
  • Models, Genetic
  • Phylogeny
  • Time Factors

Grants and funding

This work was supported by Strategic Priority Research Program of the Chinese Academy of Sciences (grant no. XDA01040407), National Natural Science Foundation of China (grant no. 91019024, grant no. 31100558, and grant no. 91131002), National Basic Research Program of China (973 Program, grant no. 2012CB518302, and grant no. 2013CB911001), National Excellent Youth Science Foundation of China (grant no. 31222030), Shanghai Rising-Star Program (grant no. 12QA1400300), China Ministry of Education Scientific Research Major Project (grant no. 311016 and 113022A), MOE University Doctoral Research Supervisor’s Funds (grant no. 20120071110021), and Shanghai Professional Development Funding (grant no. 2010001).