Patterns of migration and admixture in sub-Saharan Africa and their contribution to populations of the Americas

by Francesco Montinaro

Human populations living on the South of the Sahara desert exhibit an exceptional degree of genetic variation. This heterogeneity is the results of demographic events and population movements spanning hundreds of thousand years, some possibly occurring in the early phases of the emergence of our species.

Systematic studies focusing on the genetic variability of sub-Saharan Africa human populations are still a few, preventing an exhaustive understanding of the complex demographic history underlying this variation and, more importantly, delaying the potential medical applications emerging from a better understanding of continental human genetic variation.

In this context, we assembled genome-wide data for ~5000 individuals from different African regions and explored the degree of genetic structure present across populations in the continent.

We identified a complex genetic structure which correlates with geographical features and linguistic groups, while the analysis of the distribution of genomic regions highlighted the spatial and chronological migration patterns present among African populations.

By integrating our dataset with genetic data of available ancient individuals throughout the continent, we inferred the genetic relationships between modern and ancient populations and gathered new insights into the genetic history of humans in Africa.

We finally use a representative subset of this extensive survey of human genetic variation to evaluate the impact of the deportation of millions of Africans on the genetic structure and demographic history of populations in the “new world”.