Genetic Adaptations Specific to the Modern Human Lineage

Funded by the Centre National de la Recherche Scientifique

Modern humans differ from their closest extinct relatives, such as Neandertals and Denisovans, by a number of anatomical and behavioral traits. However, the genetic changes underlying these differences remain largely unknown. While comparing archaic and modern human genomes has revealed many variants unique to modern humans, distinguishing those with functional relevance from neutral changes remains a major challenge.

In this project, we identify the key genetic changes that distinguish modern humans from archaic humans and determine which of these contributed to the emergence of lineage-specific traits. By integrating modern and archaic genomes with signatures of selection, functional annotations, and machine learning approaches, we disentangle potentially adaptive mutations from neutral variation accumulated since the divergence of these groups around 600,000 years ago.

Through this integrative framework, we aim to predict the biological and medical consequences of modern human-specific genetic changes and to better understand the molecular basis of traits unique to our lineage.

What are the key genetic changes that define modern humans? Some mutations that spread to all humans during human evolution likely form the genetic basis of important traits specific to our lineage.
(Peyrégne et al., 2017) (Peyrégne et al., 2022)

References

2022

  1. Article
    The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals
    Stéphane Peyrégne, Janet Kelso, Benjamin M Peter, and 1 more author
    eLife, 2022

2017

  1. Method
    Detecting ancient positive selection in humans using extended lineage sorting
    Stéphane Peyrégne, Michael James Boyle, Michael Dannemann, and 1 more author
    Genome research, 2017