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The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
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Epigenetic Pattern on the Human Y Chromosome Is Evolutionarily Conserved.

Minjie Zhang1,2, Chuan-Chao Wang3, Caiyun Yang1

  • 1Key Laboratory of Genomic and Precision Medicine, China Gastrointestinal Cancer Research Center, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.

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The DNA methylation pattern on the Y chromosome is evolutionarily conserved in human males. This epigenetic pattern remains stable across family members and haplogroups, indicating its conservative nature throughout human male history.

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Area of Science:

  • Epigenetics
  • Human Evolution
  • Genomics

Background:

  • DNA methylation is crucial for mammalian development.
  • The evolutionary conservation of DNA methylation patterns, particularly on the Y chromosome, remains largely unexplored.
  • The Y chromosome, passed paternally, is valuable for studying human evolutionary history.

Purpose of the Study:

  • To investigate the evolutionary conservation of DNA methylation patterns on the human Y chromosome.
  • To analyze epigenetic patterns in relation to Y chromosome phylogeny and human male history.

Main Methods:

  • Epigenetic pattern analysis of the Y chromosome from 72 donors.
  • Utilized deep-rooted pedigrees and the latest Y chromosome phylogenetic tree.
  • Compared DNA methylation levels across family members, haplogroups, and continental populations (African and Asian).

Main Results:

  • The DNA methylation pattern on the Y chromosome demonstrated stability within family members and across different haplogroups.
  • Identified two Y chromosome methylation sites specific to certain haplogroups, showing genotype-dependent characteristics.
  • Observed similar DNA methylation patterns in African and Asian samples, despite significant divergence times.

Conclusions:

  • The DNA methylation pattern on the human Y chromosome is conservative and stable throughout human male evolutionary history.
  • Epigenetic patterns on the Y chromosome can provide insights into paternal lineage and evolutionary relationships.