Abstract

BackgroundRecent genetic studies have suggested that the colonization of East Asia by modern humans was more complex than a single origin from the South, and that a genetic contribution via a Northern route was probably quite substantial.ResultsHere we use a spatially-explicit computer simulation approach to investigate the human migration hypotheses of this region based on one-route or two-route models. We test the likelihood of each scenario by using Human Leukocyte Antigen (HLA) − A, −B, and − DRB1 genetic data of East Asian populations, with both selective and demographic parameters considered. The posterior distribution of each parameter is estimated by an Approximate Bayesian Computation (ABC) approach.ConclusionsOur results strongly support a model with two main routes of colonization of East Asia on both sides of the Himalayas, with distinct demographic histories in Northern and Southern populations, characterized by more isolation in the South. In East Asia, gene flow between populations originating from the two routes probably existed until a remote prehistoric period, explaining the continuous pattern of genetic variation currently observed along the latitude. A significant although dissimilar level of balancing selection acting on the three HLA loci is detected, but its effect on the local genetic patterns appears to be minor compared to those of past demographic events.Electronic supplementary materialThe online version of this article (doi:10.1186/s12862-015-0512-0) contains supplementary material, which is available to authorized users.

Highlights

  • Recent genetic studies have suggested that the colonization of East Asia by modern humans was more complex than a single origin from the South, and that a genetic contribution via a Northern route was probably quite substantial

  • The present results suggest that the impact of demographic factors on the East Asian Human Leukocyte Antigen (HLA) genetic variation overcame to a large extent the impact of balancing selection, as revealed at the global scale by significant correlations between HLA population differentiations and geography resulting from population migrations [29]

  • Our study reveals that evolutionary mechanisms related to the demographic history of East Asian populations had major effects on the observed genetic patterns compared to natural selection acting on HLA, which is weak for the three HLA loci

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Summary

Introduction

Recent genetic studies have suggested that the colonization of East Asia by modern humans was more complex than a single origin from the South, and that a genetic contribution via a Northern route was probably quite substantial. During their extensive colonization of the world since the emergence of Homo sapiens in East Africa around 200,000 years ago [1], modern human populations have evolved genetically through various mechanisms including random genetic drift, gene flow and natural selection [2]. Besides the aforementioned Southern route, modern humans followed a Northern route across Central Asia (along the northern edge of the Himalayas) and Southern Siberia to reach NEA [9]

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