古DNA解析东亚南北方人群的迁徙与演化历史

doi:10.16288/j.yczz.24-224

遗传 ›› 2025, Vol. 47 ›› Issue (1): 18-33.doi: 10.16288/j.yczz.24-224

古DNA解析东亚南北方人群的迁徙与演化历史

平婉菁¹(), 薛家旸¹^,²(), 付巧妹¹^,²()

1.中国科学院古脊椎动物与古人类研究所，北京 100044
2.中国科学院大学，北京 101408

收稿日期:2024-08-05 修回日期:2024-09-18 出版日期:2025-01-20 发布日期:2024-11-19
通讯作者: 付巧妹，研究员，研究方向：人类及伴生物种(动物、微生物)演化、古DNA和古蛋白技术研发。E-mail: fuqiaomei@ivpp.ac.cn
作者简介:平婉菁，硕士，工程师，研究方向：古DNA技术。E-mail: pingwanjing@ivpp.ac.cn
薛家旸，博士研究生，专业方向：古基因组学。E-mail: xuejiayang20@mails.ucas.ac.cn
第一联系人：
平婉菁和薛家旸并列第一作者。
基金资助:
国家自然科学基金杰出青年基金项目(41925009);中国科学院稳定支持基础研究领域青年团队计划(YSBR-019)

Ancient DNA elucidates the migration and evolutionary history of northern and southern populations in East Asia

Wanjing Ping¹(), Jiayang Xue¹^,²(), Qiaomei Fu¹^,²()

1. Institute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences, Beijing 100044, China
2. University of Chinese Academy of Sciences, Beijing 100049, China

Received:2024-08-05 Revised:2024-09-18 Published:2025-01-20 Online:2024-11-19
Supported by:
National Natural Science Foundation of China(41925009);Chinese Academy of Sciences(YSBR-019)

摘要/Abstract

摘要：

过去10余年里，古基因组学技术和研究不断发展，极大提高了学界和公众对人类演化历史的理解和认识。2017年起，东亚，特别是中国地区早期人类古基因组研究大规模开展，使得东亚不同时间和地点人类古基因组数据得以大量涌现，为东亚数万年来人群演化历史带来许多全新的认识。特别是2022年以来，中国南北方万年内古人群基因组研究成果大量涌现，为揭示东亚不同区域人群之间的迁徙扩散与互动交流历史带来诸多新证据，但目前尚无针对东亚地区该时段古人群基因组研究最新进展的系统性综述。因此，本文以中国地区古人群基因组研究为重点，系统梳理了东亚地区自旧石器时代晚期以来人群的遗传格局和迁移交流历史。综合现有研究表明，东亚古人群早在1.9万年前已经发生南北分化，形成不同的人群谱系，并从新石器时代早期开始发生双向的基因交流与互动；新石器时代中期，这种互动出现强化趋势；到历史时期，以东亚北方人群相关祖源成分对南方地区古人群影响更为显著，形成现今中国人群的遗传结构。在这一过程中，中国南北方古人群通过沿海和内陆通道与西伯利亚、日韩、东南亚、太平洋岛屿等其他周边地区古人群发生广泛的互动交流，对不同语系人群的形成发挥了重要作用。这些研究揭示出东亚万年以来人群遗传演化与交流融合的历史脉络，但仍留有许多尚未解决的谜团，有待更多时间段和更广泛区域范围的古人群样本基因组数据得以展开更加全面和细致的探索研究，推动相关科学问题进一步突破。

关键词: 古基因组, 东亚南方人群, 东亚北方人群, 二层假说, 基因交流

Abstract:

Over the past decade, the continuous development of ancient genomic technology and research has significantly advanced our understanding of human history. Since 2017, large-scale studies of ancient human genomes in East Asia, particularly in China, have emerged, resulting in a wealth of ancient genomic data from various time periods and locations, which has provided new insights into the genetic history of East Asian populations over tens of thousands of years. Especially since 2022, there emerged a series of new research progresses in the genetic histories of the northern and southern Chinese populations within the past 10,000 years. However, there is currently no systematic review focused on these recent ancient genomic studies in East Asia. Therefore, this article emphasizes the study of ancient human genomes in China and systematically reviews the genetic patterns and migration history of populations in East Asia since the Late Paleolithic. Existing research indicates that by at least 19,000 years ago, there was a north-south differentiation among ancient East Asian populations, leading to different genetic lineages divided by the Qinling-Huaihe line. Gene flow and interactions between northern and southern East Asians began in the Early Neolithic and were further strengthened from the Mid-Neolithic. By the historical period, northern East Asian ancestry played a profound role in the genetic components of southern populations, shaping the genetic structure of present-day Chinese populations. Throughout this process, ancient populations in northern and southern China also engaged in extensive interactions through coastal and inland routes with populations from surrounding regions, including Siberia, Japan, Korea, Southeast Asia, and Pacific islands, playing a crucial role in the formation of different linguistic groups. These studies have charted the evolutionary and interaction history of East Asian populations over tens of thousands of years; yet, many unresolved mysteries remain. Further exploration is needed through ancient genomic data from additional time periods and broader geographic areas to facilitate a more comprehensive and detailed investigation, thereby advancing related scientific questions.

Key words: ancient genome, southern East Asians, northern East Asians, two-layer hypothesis, genetic exchange

平婉菁, 薛家旸, 付巧妹. 古DNA解析东亚南北方人群的迁徙与演化历史[J]. 遗传, 2025, 47(1): 18-33.

Wanjing Ping, Jiayang Xue, Qiaomei Fu. Ancient DNA elucidates the migration and evolutionary history of northern and southern populations in East Asia[J]. Hereditas(Beijing), 2025, 47(1): 18-33.

图/表 2

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古DNA解析东亚南北方人群的迁徙与演化历史

Ancient DNA elucidates the migration and evolutionary history of northern and southern populations in East Asia

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