The evolutionary history of Neanderthal and Denisovan Y chromosomes

Science. 2020 Sep 25;369(6511):1653-1656. doi: 10.1126/science.abb6460.

Abstract

Ancient DNA has provided new insights into many aspects of human history. However, we lack comprehensive studies of the Y chromosomes of Denisovans and Neanderthals because the majority of specimens that have been sequenced to sufficient coverage are female. Sequencing Y chromosomes from two Denisovans and three Neanderthals shows that the Y chromosomes of Denisovans split around 700 thousand years ago from a lineage shared by Neanderthals and modern human Y chromosomes, which diverged from each other around 370 thousand years ago. The phylogenetic relationships of archaic and modern human Y chromosomes differ from the population relationships inferred from the autosomal genomes and mirror mitochondrial DNA phylogenies, indicating replacement of both the mitochondrial and Y chromosomal gene pools in late Neanderthals. This replacement is plausible if the low effective population size of Neanderthals resulted in an increased genetic load in Neanderthals relative to modern humans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosomes, Human, Y / genetics
  • DNA, Ancient
  • DNA, Mitochondrial / genetics
  • Evolution, Molecular*
  • Humans
  • Life History Traits*
  • Male
  • Neanderthals / classification
  • Neanderthals / genetics*
  • Phylogeny
  • Y Chromosome / genetics*

Substances

  • DNA, Ancient
  • DNA, Mitochondrial