Abstract

BackgroundHainan Island is located around the conjunction of East Asia and Southeast Asia, and during the Last Glacial Maximum (LGM) was connected with the mainland. This provided an opportunity for the colonization of Hainan Island by modern human in the Upper Pleistocene. Whether the ancient dispersal left any footprints in the contemporary gene pool of Hainan islanders is debatable.ResultsWe collected samples from 285 Li individuals and analyzed mitochondrial DNA (mtDNA) variations of hypervariable sequence I and II (HVS-I and II), as well as partial coding regions. By incorporating previously reported data, the phylogeny of Hainan islanders was reconstructed. We found that Hainan islanders showed a close relationship with the populations in mainland southern China, especially from Guangxi. Haplotype sharing analyses suggested that the recent gene flow from the mainland might play important roles in shaping the maternal pool of Hainan islanders. More importantly, haplogroups M12, M7e, and M7c1* might represent the genetic relics of the ancient population that populated this region; thus, 14 representative complete mtDNA genomes were further sequenced.ConclusionsThe detailed phylogeographic analyses of haplogroups M12, M7e, and M7c1* indicated that the early peopling of Hainan Island by modern human could be traced back to the early Holocene and/or even the late Upper Pleistocene, around 7 - 27 kya. These results correspond to both Y-chromosome and archaeological studies.

Highlights

  • Hainan Island is located around the conjunction of East Asia and Southeast Asia, and during the Last Glacial Maximum (LGM) was connected with the mainland

  • With comprehensive phylogeographic analyses based on complete mitochondrial DNA (mtDNA) genomes sequencing, we identified some potential candidate markers for the early peopling of Hainan Island, which could be traced back to ~ 7 - 27 kya

  • The phylogeny of mtDNA in Hainan Island Hypervariable sequence (HVS) analysis and partial coding region testing indicated that all mtDNA lineages of the 285 Li individuals were unambiguously assigned into the previously defined haplogroups in East and Southeast Asians

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Summary

Introduction

Hainan Island is located around the conjunction of East Asia and Southeast Asia, and during the Last Glacial Maximum (LGM) was connected with the mainland. Hainan Island might lay on one of the modern human northward migration routes from Southeast Asia to East Asia and it is likely that Hainan islanders may maintain certain ancient footprints of these dispersals [4]. This scenario has been supported by some recent archaeological evidence, which suggested that Hainan Island might. With comprehensive phylogeographic analyses based on complete mtDNA genomes sequencing, we identified some potential candidate markers for the early peopling of Hainan Island, which could be traced back to ~ 7 - 27 kya

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