Complex genetic patterns in human arise from a simple range-expansion model over continental landmasses

PLoS One. 2018 Feb 21;13(2):e0192460. doi: 10.1371/journal.pone.0192460. eCollection 2018.

Abstract

Although it is generally accepted that geography is a major factor shaping human genetic differentiation, it is still disputed how much of this differentiation is a result of a simple process of isolation-by-distance, and if there are factors generating distinct clusters of genetic similarity. We address this question using a geographically explicit simulation framework coupled with an Approximate Bayesian Computation approach. Based on six simple summary statistics only, we estimated the most probable demographic parameters that shaped modern human evolution under an isolation by distance scenario, and found these were the following: an initial population in East Africa spread and grew from 4000 individuals to 5.7 million in about 132 000 years. Subsequent simulations with these estimates followed by cluster analyses produced results nearly identical to those obtained in real data. Thus, a simple diffusion model from East Africa explains a large portion of the genetic diversity patterns observed in modern humans. We argue that a model of isolation by distance along the continental landmasses might be the relevant null model to use when investigating selective effects in humans and probably many other species.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Demography
  • Genetics, Population
  • Geography*
  • Humans
  • Models, Genetic*

Grants and funding

This project was funded by a grant from the Swiss National Science Fundation (grant number 31003A_138180), http://www.snf.ch/en/Pages/default.aspx. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.