Abstract
AbstractThe ancient Silk Road served as the main connection between East and West Eurasia for several centuries. At any rate, the genetic exchange between populations along the ancient Silk Road was likely to leave traces on the contemporary gene pool of local people in Northwest China, which was the passage of the Northern Silk Road. However, genetic sources from northwestern China are under-represented in the current population-scale genomic database. To characterize the genetic architecture and adaptative history of the Northern Silk Road ethnic populations, we performed whole-genome sequencing on 126 individuals from six ethnolinguistic groups (Tibeto-Burman (TB)-speaking Tibetan, Mongolic (MG)-speaking Dongxiang/Tu/eastern Yugur, and Turkic (TK)-speaking Salar/western Yugur) living in Gansu and Qinghai in the 10K Chinese people Genomic Diversity Project (10K_CPGDP). We observed ethnicity-related differentiated population structures among these geographically close Northwest Chinese populations, that is, Salar and Tu people showed a close affinity with southwestern TB groups, and other studied populations shared more alleles with MG and Tungusic groups. Overall, the patterns of genetic clustering were not consistent with linguistic classifications. We estimated that Dongxiang, Tibetan, and Yugur people inherited more than 10% West Eurasian ancestry, much higher than that of Salar and Tu people (<7%). Hence, the difference in the proportion of West Eurasian ancestry has primarily contributed to the genetic divergence of geographically close Northwest Chinese populations. The signatures of natural selection were identified in genes associated with cardiovascular system diseases or lipid metabolism related to triglyceride levels (e.g.,PRIM2, PDE4DIP, NOTCH2, DDAH1, GALNT2, andMLIP) and developmental and neurogenetic diseases (e.g.,NBPFs 8/9/20/25P, etc.). Moreover, theEPAS1gene, a transcription factor regulating hypoxia response, showed relatively high PBS values in our studied groups. The sex-biased admixture history, in which the West Eurasian ancestry was introduced primarily by males, was identified in Dongxiang, Tibetan, and Yugur populations. We determined that the eastern-western admixture occurred ∼783–1131 years ago, coinciding with the intensive economic and cultural exchanges during the historic Trans-Eurasian cultural exchange era.
Publisher
Cold Spring Harbor Laboratory
Reference77 articles.
1. The pleiotropic effect of a deleterious DES mutation in familial atrial fibrillation and the role of PDE4DIP as a genetic modifier for heart block;European Heart Journal,2020
2. Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction;Human Mutation,2021
3. Fast model-based estimation of ancestry in unrelated individuals
4. Bergstrom A , McCarthy SA , Hui R , Almarri MA , Ayub Q , Danecek P , Chen Y , Felkel S , Hallast P , Kamm J , et al. 2020a. Insights into human genetic variation and population history from 929 diverse genomes. Science 367.
5. Insights into human genetic variation and population history from 929 diverse genomes