Abstract

The Japanese people are one of the most important populations for studying the origin and diversification of East Asian populations. As an island population, the Japanese's path of migration is a long-standing controversy. Archeological evidence suggests that there were at least two waves of migration to the Japanese archipelago in prehistory: the Paleolithic and Neolithic Jomonese as well as the Aeneolithic Yayoiese. However, the contributions of these Jomonese and Yayoiese to the contemporary Japanese population remain unclear. In this article, we provide evidence from human genetics as a new approach to addressing this topic. At the beginning, we introduce the history of human migration to the Japanese archipelago, as well as materials and methods human geneticists use. Subsequently, we tested three distinct population expansion models using evidences from recent human genetic studies on the Japanese, East Asian, and Serbian populations. Finally, we conclude that the contemporary main island Japanese are the result of population admixture of Jomonese, Yayoiese, and Han Chinese, which consists with the Admixture model.

Highlights

  • There are at least two waves of migrations to the Japanese archipelago in the prehistory

  • Before the discovery of detailed markers on the Y chromosome, Sokal et al (1998) predicted that if the origin of Japanese consists with the Admixture model, the distribution of certain characteristics will be U-shaped or inverted U-shaped

  • Thanks to the large sample number of Y chromosome studies, the U-shaped and the inverted U-shaped patterns have been shown, which is supportive of the Admixture model

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Summary

Mapping Human Genetic Diversity on the Japanese Archipelago

The Japanese people are one of the most important populations for studying the origin and diversification of East Asian populations. Archeological evidence suggests that there were at least two waves of migration to the Japanese archipelago in prehistory: the Paleolithic and Neolithic Jomonese as well as the Aeneolithic Yayoiese. The contributions of these Jomonese and Yayoiese to the contemporary Japanese population remain unclear. We introduce the history of human migration to the Japanese archipelago, as well as materials and methods human geneticists use. We tested three distinct population expansion models using evidences from recent human genetic studies on the Japanese, East Asian, and Serbian populations. We conclude that the contemporary main island Japanese are the result of population admixture of Jomonese, Yayoiese, and Han Chinese, which consists with the Admixture model

Introduction
Paleolithic and Neolithic Jomon Period Migrations
Aeneolithic Yayoi Period Migrations
Three Competing Theories on the Origin of Contemporary Japanese
Evidences from Y Chromosome Analyses
SEAb CASb SASb OCEb
Haplogroup O
Haplogroup D
Haplogroups C and N
Evidences from mtDNA Analyses
Udegey Siberiana
Evidences from Autosomal Analyses
Findings
Conclusion and Prospects
Full Text
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