基于线粒体基因组和Y染色体研究史前东亚农业向东南亚大陆扩散的模式

The advent of agriculture, being considered as one of the most important events in evolutionary history of modern human, is the key issue in promoting population expansion, population dispersals, formation of genetic landscapes of modern human. As one of the most important three homelands of agriculture in the world, East Asia’s agricultures had affected the a vast range of regions including the whole East Asia and its surroundings, especially Southeast Asia. Previous genetic studies suggested that the introduce of agriculture significantly facilitated the rapid increase of population size in Mainland Southeast Asia (MSEA). However, whether this expansion of farming technology is mediated by cultural or demic diffusion is still unknown. The key issue to resolve this problem is to identify the genetic markers in MSEA populations that can be traced back to the initial farmers in East Asia. For these reasons, in this project, we will firstly screen out the potential Neolithic haplogroups in MSEA that can be traced back to East Asia based on large-scale mitochondrial DNA (mtDNA) and Y chromosome SNP data that covering the whole East Asia and MSEA; then, by complete mtDNA sequencing and high-resolution Y-SNP genotyping, we further confirm the collection between these haplogroups and agriculture expansion based on phylogeographic and time estimation analyses. In the light of these results, we aim to answer the question about whether populations co-dispersed with this southward expansion of agriculture from East Asia. This project will shade more light on understanding the expansion model of East Asian agriculture, as well as the formation of genetic structure of Eastern Asian populations.

农业的产生是人类进化历史中最重大的事件之一，也是促使史前人口数量剧增、人群交流扩散及现今人群遗传格局形成的关键因素。作为世界最重要的农业发源地之一的东亚，虽然其农业的影响覆盖了整个东亚及东南亚等地，且有证据表明，东亚农业在向南扩散的过程中促进了东南亚大陆（MSEA）人口快速增长，但迄今仍不清楚该影响究竟限于文化层面还是由人群扩散介导。解答该问题的关键在于甄别MSEA人群中是否存在源自东亚农业人群的遗传组分。鉴于此，本项目拟基于覆盖东亚和MSEA的线粒体DNA（mtDNA）和Y染色体数据，筛选源自东亚的新石器时期遗传组分，并通过mtDNA全序列测定、高分辨率Y染色体SNP扫描及系统地理分析等手段，研究该组分与东亚史前农业扩散的关系，进而解答该扩散过程是否伴随人群迁徙这一核心科学问题。项目的开展有助于阐明东亚农业扩散的模式，为深入理解亚洲东部人群遗传多样性分布格局的形成机制提供新的证据和认识。

农业的产生是人类进化历史中最重大的事件之一，也是促使史前人口数量剧增、人群交流扩散及现今人群遗传格局形成的关键因素。作为世界最重要的农业发源地之一的东亚，其农业的影响覆盖了整个东亚及其周边等地区，但迄今仍不清楚该影响究竟限于文化层面还是由人群扩散介导。本项目综合东亚及其周边人群的遗传学数据（包括发表和本项目新增加的线粒体DNA数据共5万余份，以及Y染色体数据约3万余份），采用高分辨率SNP分型及测序的手段，深入解析了东亚人群的遗传结构。进一步结合考古学数据，厘清了东亚农业扩散对现代人群，尤其是藏族和汉族人群遗传结构的影响。同时，项目还对语言传播模式进行了探讨。同时基于Y染色体数据研究了东亚主要世系（主要是O等）进行了完善和解析。研究结果表明，东亚的三大古老农业（粟黍农业、水稻农业和热带农业）对汉族人群的遗传结构的形成起到了重要的促进作用；粟黍农业人群向高原的迁徙可能介导了大麦农业向青藏高原的传播，并且进一步促进了现代藏族人群遗传结构的形成。基于本项目，共表论文5篇，其中SCI论文4篇，影响因子大于13的2篇。相关研究成果对东亚人群遗传结构及其形成机制，以及早期农业扩散模式提供了新的认识。