The Genetic Structure of Chinese Hui Ethnic Group Revealed by Complete Mitochondrial Genome Analyses Using Massively Parallel Sequencing

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.

Comprehensive Insights Into Forensic Features and Genetic Background of Chinese Northwest Hui Group Using Six Distinct Categories of 231 Molecular Markers

“…In addition to the reference Hui groups from Chinese different regions, the Northwest Hui group depicted using Y-STRs was more prone to display closer genetic relationships with populations from Central and West Asia, as well as several Chinese groups. Additionally, our previous research based on the complete mitochondrial genome illustrated that the Northwest Hui group typically exhibited closer genetic relationships with East Asian populations, roughly concordant with the genetic result provided by 55 AISNPs in this study (Chen et al, 2020). Briefly, our previous study indicated that the genetic component of the maternal lineage that appeared in the Northwest Hui group might be predominantly derived from East Asia (Chen et al, 2020); the Y chromosome strictly follows the paternal inheritance with little recombination during the genetic process, so the paternal lineage of the Northwest Hui group may still retain some ancient genetic imprints closely related to Central or West Asian populations (Gladney, 1998).…”

“…Additionally, our previous research based on the complete mitochondrial genome illustrated that the Northwest Hui group typically exhibited closer genetic relationships with East Asian populations, roughly concordant with the genetic result provided by 55 AISNPs in this study (Chen et al, 2020). Briefly, our previous study indicated that the genetic component of the maternal lineage that appeared in the Northwest Hui group might be predominantly derived from East Asia (Chen et al, 2020); the Y chromosome strictly follows the paternal inheritance with little recombination during the genetic process, so the paternal lineage of the Northwest Hui group may still retain some ancient genetic imprints closely related to Central or West Asian populations (Gladney, 1998). Considering the ancestral component prediction, the Northwest Hui group revealed a large proportion of ancestral components from East Asia and relatively little from Europe.…”

“…The intimate genetic relationships between the Hui group and some abovementioned Chinese populations were also reported in previous studies (Hong et al, 2007;Fang et al, 2018;He et al, 2018;Lan et al, 2018;Xie et al, 2018;Wang et al, 2019;Xie et al, 2019;Chen et al, 2020;Zhou et al, 2020). For example, the close genetic relationships between Hui groups and Han populations have been commonly reported from different perspectives, including Y-STRs and Y-SNPs (Wang et al, 2019;Xie et al, 2019), STRs (Fang et al, 2018), AISNPs (He et al, 2018), InDels (Xie et al, 2018;Zhou et al, 2020), and mitochondrial DNA (Chen et al, 2020). Other populations, such as Mongolian (Hong et al, 2007) and Xibe (Lan et al, 2018), were also reported to possibly have undergone gene exchange with Hui groups to some extent.…”

“…In the phylogenetic tree plot, the Northwest Hui group was initially clustered with East Asian populations, exhibiting extremely low genetic differentiations from the Tu, Xibe, Yi, Bai, Han, Hakka, and Mongolian groups, etc. The intimate genetic relationships between the Hui group and some abovementioned Chinese populations were also reported in previous studies (Hong et al, 2007;Fang et al, 2018;He et al, 2018;Lan et al, 2018;Xie et al, 2018;Wang et al, 2019;Xie et al, 2019;Chen et al, 2020;Zhou et al, 2020). For example, the close genetic relationships between Hui groups and Han populations have been commonly reported from different perspectives, including Y-STRs and Y-SNPs (Wang et al, 2019;Xie et al, 2019), STRs (Fang et al, 2018), AISNPs (He et al, 2018), InDels (Xie et al, 2018;Zhou et al, 2020), and mitochondrial DNA (Chen et al, 2020).…”

“…There are different opinions on the ethnogenesis of the Tu group, and various studies indicated that its genetic origin could be traced back to Tuyuhun Xianbei, to the Mongolian troop that came to the current Qinghai-Gansu region during the Mongolian conquest, or to the Han population (Schwarz, 1984;Hu, 2010). The Chinese Hui group was once conquered by the Yuan Dynasty (Schwarz, 1984;Xie and Shan, 2002) as aforementioned, and according to previous studies, the Hui group might exchange a large proportion of genes with the Chinese Han population due to the long-term intermarriages (Schwarz, 1984;Chen et al, 2020). These historical records and genetic studies might partially explain the intimate relationship between the Northwest Hui and Tu group revealed by the PCA plot.…”