Predicting Environmental and Ecological Drivers of Human Population Structure

Mol Biol Evol. 2023 May 2;40(5):msad094. doi: 10.1093/molbev/msad094.

Abstract

Landscape, climate, and culture can all structure human populations, but few existing methods are designed to simultaneously disentangle among a large number of variables in explaining genetic patterns. We developed a machine learning method for identifying the variables which best explain migration rates, as measured by the coalescent-based program MAPS that uses shared identical by descent tracts to infer spatial migration across a region of interest. We applied our method to 30 human populations in eastern Africa with high-density single nucleotide polymorphism array data. The remarkable diversity of ethnicities, languages, and environments in this region offers a unique opportunity to explore the variables that shape migration and genetic structure. We explored more than 20 spatial variables relating to landscape, climate, and presence of tsetse flies. The full model explained ∼40% of the variance in migration rate over the past 56 generations. Precipitation, minimum temperature of the coldest month, and elevation were the variables with the highest impact. Among the three groups of tsetse flies, the most impactful was fusca which transmits livestock trypanosomiasis. We also tested for adaptation to high elevation among Ethiopian populations. We did not identify well-known genes related to high elevation, but we did find signatures of positive selection related to metabolism and disease. We conclude that the environment has influenced the migration and adaptation of human populations in eastern Africa; the remaining variance in structure is likely due in part to cultural or other factors not captured in our model.

Keywords: MAPS; SPRUCE; barriers; gene flow; migration; random forest.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Africa, Eastern
  • Animals
  • Climate
  • Genome-Wide Association Study
  • Genomics
  • Human Genetics
  • Human Migration*
  • Humans
  • Language
  • Models, Genetic*
  • Tsetse Flies