Functional consequences of archaic introgression and their impact on fitness

Maxime Rotival (1) , Lluis Quintana-Murci (1, 2)

1 Génétique Evolutive Humaine - Human Evolutionary Genetics
2 Collège de France - Chaire Génomique humaine et évolution

Anatomically modern humans started to exit Africa for the first time at least 60,000 years ago (ya). Along their journey across the globe, they encountered and admixed with other hominins that are now extinct, such as the Neanderthals or Denisovans. Given the deep divergence time between ancient hominins and modern humans, such admixture events left molecular traces in non-African populations that are still visible today in their genomes [1]. Over the past few years, there is accumulating evidence to suggest that these segments of “archaic” DNA have the potential to contribute to phenotypic differences between contemporary individuals and populations [2]. Yet, to understand the genuine contribution of archaic alleles to the genetic architecture of complex traits, it is necessary to account for the diverse selective pressures that have acted upon introgressed alleles. Here, we discuss recent findings on how natural selection—either negative or positive—has shaped the landscape of Neanderthal ancestry in the genomes of modern Eurasians, and comment on the contribution of archaic haplotypes to present-day phenotypic variation.

Domaines: Génétique des populations [q-bio.PE]; Génétique humaine

Maxime Rotival, Lluis Quintana-Murci. Functional consequences of archaic introgression and their impact on fitness. Genome Biology, 2020, 21 (1), pp.3. ⟨10.1186/s13059-019-1920-z⟩. ⟨pasteur-02549812⟩