Whole-genome sequence analysis of a Pan African set of samples reveals archaic gene flow from an extinct basal population of modern humans into sub-Saharan populations

Show full item record



Permalink

http://hdl.handle.net/10138/301310

Citation

Genome Biology. 2019 Apr 26;20(1):77

Title: Whole-genome sequence analysis of a Pan African set of samples reveals archaic gene flow from an extinct basal population of modern humans into sub-Saharan populations
Author: Lorente-Galdos, Belen; Lao, Oscar; Serra-Vidal, Gerard; Santpere, Gabriel; Kuderna, Lukas F K; Arauna, Lara R; Fadhlaoui-Zid, Karima; Pimenoff, Ville N; Soodyall, Himla; Zalloua, Pierre; Marques-Bonet, Tomas; Comas, David
Publisher: BioMed Central
Date: 2019-04-26
URI: http://hdl.handle.net/10138/301310
Abstract: Abstract Background Population demography and gene flow among African groups, as well as the putative archaic introgression of ancient hominins, have been poorly explored at the genome level. Results Here, we examine 15 African populations covering all major continental linguistic groups, ecosystems, and lifestyles within Africa through analysis of whole-genome sequence data of 21 individuals sequenced at deep coverage. We observe a remarkable correlation among genetic diversity and geographic distance, with the hunter-gatherer groups being more genetically differentiated and having larger effective population sizes throughout most modern-human history. Admixture signals are found between neighbor populations from both hunter-gatherer and agriculturalists groups, whereas North African individuals are closely related to Eurasian populations. Regarding archaic gene flow, we test six complex demographic models that consider recent admixture as well as archaic introgression. We identify the fingerprint of an archaic introgression event in the sub-Saharan populations included in the models (~ 4.0% in Khoisan, ~ 4.3% in Mbuti Pygmies, and ~ 5.8% in Mandenka) from an early divergent and currently extinct ghost modern human lineage. Conclusion The present study represents an in-depth genomic analysis of a Pan African set of individuals, which emphasizes their complex relationships and demographic history at population level.
Subject: Human population genetics
Genome diversity
Whole-genome sequences
Africa
Archaic introgression
Rights: The Author(s).


Files in this item

Total number of downloads: Loading...

Files Size Format View
13059_2019_Article_1684.pdf 1.040Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record