Genetic Diversity Analysis of the Chinese Daur Ethnic Group in Heilongjiang Province by Complete Mitochondrial Genome Sequencing
Mitochondrial DNA (mtDNA) has the characteristics of maternal inheritance, high mutation rate, high copy number, and no recombination. As the most powerful tool for studying the origin and evolution of modern humans, mtDNA has great significance in the research of population genetics and evolutionar...
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Frontiers Media S.A.
2022-06-01
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Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.919063/full |
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author | Mansha Jia Qiuyan Li Qiuyan Li Qiuyan Li Tingting Zhang Tingting Zhang Bonan Dong Bonan Dong Xiao Liang Xiao Liang Songbin Fu Songbin Fu Jingcui Yu Jingcui Yu |
author_facet | Mansha Jia Qiuyan Li Qiuyan Li Qiuyan Li Tingting Zhang Tingting Zhang Bonan Dong Bonan Dong Xiao Liang Xiao Liang Songbin Fu Songbin Fu Jingcui Yu Jingcui Yu |
author_sort | Mansha Jia |
collection | DOAJ |
description | Mitochondrial DNA (mtDNA) has the characteristics of maternal inheritance, high mutation rate, high copy number, and no recombination. As the most powerful tool for studying the origin and evolution of modern humans, mtDNA has great significance in the research of population genetics and evolutionary genetics. Here, we provide new insights into the maternal genetic history of the Daur ethnic group by generating complete mitochondrial genomes from a total of 146 Daur individuals in China. We also collected the published complete mitochondrial genome sequences of 5,094 individuals from 56 worldwide populations as reference data to further explore the matrilineal genetic landscape of the Daur ethnic group. First, the haplotype diversity was 0.9943 ± 0.0019 and nucleotide diversity was 0.0428 ± 0.0210. The neutrality tests of the Daur group showed significant negative values and the mismatch distribution curve was obviously distributed in a unimodal pattern. The results showed that the Daur ethnic group has high genetic diversity and may have experienced recent population expansion. In addition, the main haplogroups of the Daur population were haplogroup D (31.51%), M* (20.55%), C (10.28%), F (7.53%), and B (6.85%), all of which were prevalent in northern China. It probably implies the northern Chinese origin of the Daur population. The PCA, FST, and phylogenetic analysis results indicated that the Daur group formed a cluster with East Asian populations, and had few genetic differences with the populations in northern China. More importantly, we found that disease-related mutation sites of the mitochondrial genome may be related to ethnic groups, which may have important implications for the prevention and occurrence of specific diseases. Overall, this study revealed the complexity and diversity of the matrilineal genetic background of the Daur ethnic group. Meanwhile, it provided meaningful data for the research on the diversity of the human genome. |
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spelling | doaj.art-49b13e2f7e3c4cafb8416e6467c9e5aa2022-12-22T02:33:52ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-06-011310.3389/fgene.2022.919063919063Genetic Diversity Analysis of the Chinese Daur Ethnic Group in Heilongjiang Province by Complete Mitochondrial Genome SequencingMansha Jia0Qiuyan Li1Qiuyan Li2Qiuyan Li3Tingting Zhang4Tingting Zhang5Bonan Dong6Bonan Dong7Xiao Liang8Xiao Liang9Songbin Fu10Songbin Fu11Jingcui Yu12Jingcui Yu13Scientific Research Centre, The Second Affiliated Hospital of Harbin Medical University, Harbin, ChinaLaboratory of Medical Genetics, Harbin Medical University, Harbin, ChinaKey Laboratory of Preservation of Human Genetic Resources and Disease Control in China, Harbin Medical University, Ministry of Education, Harbin, ChinaEditorial Department of International Journal of Genetics, Harbin Medical University, Harbin, ChinaLaboratory of Medical Genetics, Harbin Medical University, Harbin, ChinaKey Laboratory of Preservation of Human Genetic Resources and Disease Control in China, Harbin Medical University, Ministry of Education, Harbin, ChinaLaboratory of Medical Genetics, Harbin Medical University, Harbin, ChinaKey Laboratory of Preservation of Human Genetic Resources and Disease Control in China, Harbin Medical University, Ministry of Education, Harbin, ChinaLaboratory of Medical Genetics, Harbin Medical University, Harbin, ChinaKey Laboratory of Preservation of Human Genetic Resources and Disease Control in China, Harbin Medical University, Ministry of Education, Harbin, ChinaLaboratory of Medical Genetics, Harbin Medical University, Harbin, ChinaKey Laboratory of Preservation of Human Genetic Resources and Disease Control in China, Harbin Medical University, Ministry of Education, Harbin, ChinaScientific Research Centre, The Second Affiliated Hospital of Harbin Medical University, Harbin, ChinaKey Laboratory of Preservation of Human Genetic Resources and Disease Control in China, Harbin Medical University, Ministry of Education, Harbin, ChinaMitochondrial DNA (mtDNA) has the characteristics of maternal inheritance, high mutation rate, high copy number, and no recombination. As the most powerful tool for studying the origin and evolution of modern humans, mtDNA has great significance in the research of population genetics and evolutionary genetics. Here, we provide new insights into the maternal genetic history of the Daur ethnic group by generating complete mitochondrial genomes from a total of 146 Daur individuals in China. We also collected the published complete mitochondrial genome sequences of 5,094 individuals from 56 worldwide populations as reference data to further explore the matrilineal genetic landscape of the Daur ethnic group. First, the haplotype diversity was 0.9943 ± 0.0019 and nucleotide diversity was 0.0428 ± 0.0210. The neutrality tests of the Daur group showed significant negative values and the mismatch distribution curve was obviously distributed in a unimodal pattern. The results showed that the Daur ethnic group has high genetic diversity and may have experienced recent population expansion. In addition, the main haplogroups of the Daur population were haplogroup D (31.51%), M* (20.55%), C (10.28%), F (7.53%), and B (6.85%), all of which were prevalent in northern China. It probably implies the northern Chinese origin of the Daur population. The PCA, FST, and phylogenetic analysis results indicated that the Daur group formed a cluster with East Asian populations, and had few genetic differences with the populations in northern China. More importantly, we found that disease-related mutation sites of the mitochondrial genome may be related to ethnic groups, which may have important implications for the prevention and occurrence of specific diseases. Overall, this study revealed the complexity and diversity of the matrilineal genetic background of the Daur ethnic group. Meanwhile, it provided meaningful data for the research on the diversity of the human genome.https://www.frontiersin.org/articles/10.3389/fgene.2022.919063/fullDaur ethnic groupmitochondrial DNAgenetic diversitymaternal inheritancepopulation genetics |
spellingShingle | Mansha Jia Qiuyan Li Qiuyan Li Qiuyan Li Tingting Zhang Tingting Zhang Bonan Dong Bonan Dong Xiao Liang Xiao Liang Songbin Fu Songbin Fu Jingcui Yu Jingcui Yu Genetic Diversity Analysis of the Chinese Daur Ethnic Group in Heilongjiang Province by Complete Mitochondrial Genome Sequencing Frontiers in Genetics Daur ethnic group mitochondrial DNA genetic diversity maternal inheritance population genetics |
title | Genetic Diversity Analysis of the Chinese Daur Ethnic Group in Heilongjiang Province by Complete Mitochondrial Genome Sequencing |
title_full | Genetic Diversity Analysis of the Chinese Daur Ethnic Group in Heilongjiang Province by Complete Mitochondrial Genome Sequencing |
title_fullStr | Genetic Diversity Analysis of the Chinese Daur Ethnic Group in Heilongjiang Province by Complete Mitochondrial Genome Sequencing |
title_full_unstemmed | Genetic Diversity Analysis of the Chinese Daur Ethnic Group in Heilongjiang Province by Complete Mitochondrial Genome Sequencing |
title_short | Genetic Diversity Analysis of the Chinese Daur Ethnic Group in Heilongjiang Province by Complete Mitochondrial Genome Sequencing |
title_sort | genetic diversity analysis of the chinese daur ethnic group in heilongjiang province by complete mitochondrial genome sequencing |
topic | Daur ethnic group mitochondrial DNA genetic diversity maternal inheritance population genetics |
url | https://www.frontiersin.org/articles/10.3389/fgene.2022.919063/full |
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