Dong Rui, Pei Shaojun, Guan Mengcen, Yau Shek-Chung, Yin Changchuan, He Rong L, Yau Stephen S-T
Yau Mathematical Sciences Center, Tsinghua University, Beijing, China.
Yanqi Lake Beijing Institute of Mathematical Sciences and Applications, Beijing, China.
Front Genet. 2022 Feb 2;12:828805. doi: 10.3389/fgene.2021.828805. eCollection 2021.
A comprehensive description of human genomes is essential for understanding human evolution and relationships between modern populations. However, most published literature focuses on local alignment comparison of several genes rather than the complete evolutionary record of individual genomes. Combining with data from the 1,000 Genomes Project, we successfully reconstructed 2,504 individual genomes and propose Divided Natural Vector method to analyze the distribution of nucleotides in the genomes. Comparisons based on autosomes, sex chromosomes and mitochondrial genomes reveal the genetic relationships between populations, and different inheritance pattern leads to different phylogenetic results. Results based on mitochondrial genomes confirm the "out-of-Africa" hypothesis and assert that humans, at least females, most likely originated in eastern Africa. The reconstructed genomes are stored on our server and can be further used for any genome-scale analysis of humans (http://yaulab.math.tsinghua.edu.cn/2022_1000genomesprojectdata/). This project provides the complete genomes of thousands of individuals and lays the groundwork for genome-level analyses of the genetic relationships between populations and the origin of humans.
全面描述人类基因组对于理解人类进化以及现代人群之间的关系至关重要。然而,大多数已发表的文献都集中在几个基因的局部比对比较上,而不是单个基因组的完整进化记录。结合来自千人基因组计划的数据,我们成功重建了2504个个体基因组,并提出了划分自然向量法来分析基因组中核苷酸的分布。基于常染色体、性染色体和线粒体基因组的比较揭示了人群之间的遗传关系,不同的遗传模式导致了不同的系统发育结果。基于线粒体基因组的结果证实了“走出非洲”假说,并断言人类,至少是女性,最有可能起源于东非。重建的基因组存储在我们的服务器上,可进一步用于人类的任何基因组规模分析(http://yaulab.math.tsinghua.edu.cn/2022_1000genomesprojectdata/)。该项目提供了数千个个体的完整基因组,为人群间遗传关系和人类起源的基因组水平分析奠定了基础。