Meiotic Genes Are Enriched in Regions of Reduced Archaic Ancestry

Mol Biol Evol. 2017 Aug 1;34(8):1974-1980. doi: 10.1093/molbev/msx141.


About 1-6% of the genetic ancestry of modern humans today originates from admixture with archaic humans. It has recently been shown that autosomal genomic regions with a reduced proportion of Neanderthal and Denisovan ancestries (NA and DA) are significantly enriched in genes that are more expressed in testis than in other tissues. To determine whether a cellular segregation pattern would exist, we combined maps of archaic introgression with a cross-analysis of three transcriptomic datasets deciphering the transcriptional landscape of human gonadal cell types. We reveal that the regions deficient in both NA and DA contain a significant enrichment of genes transcribed in meiotic germ cells. The interbreeding of anatomically modern humans with archaic humans may have introduced archaic-derived alleles that contributed to genetic incompatibilities affecting meiosis that were subsequently purged by natural selection.

Keywords: archaic hominin admixture; genetic incompatibilities; germ cells; meiosis; testis.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Databases, Genetic
  • Evolution, Molecular
  • Gene Expression Regulation, Developmental / genetics
  • Genome, Human / genetics
  • Genomics
  • Hominidae / genetics*
  • Humans
  • Male
  • Meiosis / genetics*
  • Neanderthals / genetics*
  • Selection, Genetic
  • Testis