Abstract
Determining the evolutionary relationships between fossil hominid groups such as Neanderthals and modern humans has been a question of enduring interest in human evolutionary genetics. Here we present a new method for addressing whether archaic human groups contributed to the modern gene pool (called ancient admixture), using the patterns of variation in contemporary human populations. Our method improves on previous work by explicitly accounting for recent population history before performing the analyses. Using sequence data from the Environmental Genome Project, we find strong evidence for ancient admixture in both a European and a West African population (p ≈ 10−7), with contributions to the modern gene pool of at least 5%. While Neanderthals form an obvious archaic source population candidate in Europe, there is not yet a clear source population candidate in West Africa.
Highlights
A long-standing controversy in the field of human evolution concerns the origin of modern humans [1,2]
The Recent African Origin (RAO) model posits that modern humans evolved in a single location in Africa and from there spread and replaced all other existing hominids [4]
We look for signs of Neanderthal admixture by analyzing the patterns of linkage disequilibrium (LD) in contemporary human DNA sequences
Summary
A long-standing controversy in the field of human evolution concerns the origin of modern humans [1,2]. The debate focuses on the relationship between various groups of archaic humans, such as Neanderthals or Asian Homo erectus, and anatomically and behaviorally modern Homo sapiens (i.e., modern humans). At one end of the spectrum, the multiregional model claims that modern humans evolved in concert across the Old World from various archaic groups [3]. The Recent African Origin (RAO) model posits that modern humans evolved in a single location in Africa and from there spread and replaced all other existing hominids [4]. We can rephrase the debate in terms of what contribution archaic human populations have made to the contemporary human gene pool. Other models predict intermediate contributions of archaic populations to the modern gene pool [7]
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