Abstract

Mitochondrial DNA (mtDNA), coupled with maternal inheritance and relatively high mutation rates, provides a pivotal way for us to investigate the formation histories of populations. The Hui minority with Islamic faith is one of the most widely distributed ethnic groups in China. However, the exploration of Hui’s genetic architecture from the complete mitochondrial genome perspective has not been detected yet. Therefore, in this study, we employed the complete mitochondrial genomes of 98 healthy and unrelated individuals from Northwest China, as well as 99 previously published populations containing 7274 individuals from all over the world as reference data, to comprehensively dissect the matrilineal landscape of Hui group. Our results demonstrated that Hui group exhibited closer genetic relationships with Chinese Han populations from different regions, which was largely attributable to the widespread of haplogroups D4, D5, M7, B4, and F1 in these populations. The demographic expansion of Hui group might occur during the Late Pleistocene. Finally, we also found that Hui group might have gene exchanges with Uygur, Tibetan, and Tajik groups in different degrees and retain minor genetic imprint of European-specific lineages, therefore, hinting the existence of multi-ethnic integration events in shaping the genetic landscape of Chinese Hui group.

Highlights

  • The Hui minority is one of the largest and widespread Chinese ethnic groups with Muslim followers

  • Central and Western Asia such as Persia, Arabia, and Turkic settled in China, laying a population foundation for the Hui group to eventually form an ethnic group in Ming dynasty (1368–1644 AD) [2]

  • The origin of Hui group was attributed to the substantial assimilation of East Asians and minor assimilation of West Eurasians based on the paternal Y chromosome analyses [5]

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Summary

Introduction

The Hui minority is one of the largest and widespread Chinese ethnic groups with Muslim followers. The fusion of Han, Tibetan, Mongolian, and other ethnic components into the Hui group has attracted the attention of scholars [3,4]. The origin of Hui group was attributed to the substantial assimilation of East Asians and minor assimilation of West Eurasians based on the paternal Y chromosome analyses [5]. Hui was proved to have proximal genetic relationships with Uygur, Han, Mongolian, and Salar groups [2,3,4]. The introduction of complete mitochondrial genome analyses will undoubtedly contribute to a more comprehensive interpretation of the matrilineal genetic structure of Hui group

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