古蛋白质组学研究揭示东亚中更新世直立人遗传特征

doi:10.16288/j.yczz.26-115

遗传 ›› 2026, Vol. 48 ›› Issue (8): 753-758.doi: 10.16288/j.yczz.26-115

古蛋白质组学研究揭示东亚中更新世直立人遗传特征

邹紫仪¹^,²(), 饶慧芸¹(), 付巧妹¹^,²()

¹ 中国科学院古脊椎动物与古人类研究所，脊椎动物演化与人类起源重点实验室，北京 100044
² 中国科学院大学，北京 100049

收稿日期:2026-05-13 出版日期:2026-08-20 发布日期:2026-05-14
通讯作者: 付巧妹，博士，研究员，研究方向：古 DNA、古蛋白技术和方法开发，古遗传学研究。E-mail: fuqiaomei@ivpp.ac.cn
作者简介:邹紫仪，硕士研究生，专业方向：古蛋白质组学。E-mail: zouziyi@ivpp.ac.cn;
饶慧芸，博士，副研究员，研究方向：古蛋白质组学。E-mail: raohuiyun@ivpp.ac.cn
第一联系人：
邹紫仪和饶慧芸并列第一作者。
基金资助:
国家自然科学基金(L2424324);中国科学院稳定支持基础研究领域青年团队计划(YSBR-019);资助和全国考古人才振兴计划(2024-278)

Paleoproteomics reveal the genetic characteristics of Middle Pleistocene Homo erectus in East Asia

Ziyi Zou¹^,²(), Huiyun Rao¹(), Qiaomei Fu¹^,²()

¹ Key Laboratory of Vertebrate Evolution and Human Origins, Institute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences, Beijing 100044, China
² University of Chinese Academy of Sciences, Beijing 100049, China

Received:2026-05-13 Published:2026-08-20 Online:2026-05-14
Supported by:
National Natural Science Foundation of China(L2424324);Chinese Academy of Sciences (CAS) Stable Support for Young Teams in Basic Research Program(YSBR-019);Archaeological Talent Promotion Program of China(2024-278)

摘要/Abstract

摘要：

直立人的化石记录可追溯至约200万年前，广泛分布于非洲、欧亚大陆和东南亚，在人类演化中具有重要地位。然而，由于分子证据匮乏，其遗传特征、内部多样性以及与其他古人类和现代人的演化关系长期悬而未决。为探究这些问题，中国科学院古脊椎动物与古人类研究所付巧妹研究团队联合多家考古研究单位，对周口店、和县、孙家洞三个遗址距今约40万年前的6枚中更新世直立人牙齿开展了牙釉质蛋白质提取与质谱分析，在以下方面取得突破：首先，基于男性特异性Y型釉原蛋白(AMELY)建立了定量的古人类性别鉴定方法，确认其中5人为男性、1人为女性；其次，在所有三个遗址的全部样本中鉴定出了位于釉成熟蛋白(AMBN)上的两个特异性氨基酸突变位点：一是首次发现的AMBN-253G突变，未见于任何其他古人类或现代人群，为东亚中更新世直立人支系提供了独有的分子标记，证实周口店、和县和孙家洞直立人同属一个演化人群；二是AMBN-273V突变，此前也在丹尼索瓦人中发现，基因分析显示该突变可能是通过一支与这些中更新世直立人相关的人群引入丹尼索瓦人的，其中一部分又最终渗入了东南亚和大洋洲等现代人群。这项研究是全球首次从直立人化石中获得具有谱系特异性的分子信息，重塑了对东亚古人类演化和基因交流历史的认知。

关键词: 直立人, 古蛋白质组学, 周口店, 和县, 孙家洞

Abstract:

Homo erectus remains have been found in Africa, Eurasia, and Southeast Asia, with a fossil record dating back to 2 million years, holding a significant place in human evolution. However, due to limited molecular evidence, its genetic characteristics, diversity, and potential connections to other archaic homonins and modern humans have long remained unresolved. To address these issues, a research team led by Qiaomei Fu from the Institute of Vertebrate Paleontology and Paleoanthropology of the Chinese Academy of Sciences, in collaboration with other archaeological institutions, successfully extracted ancient enamel proteins from six Middle Pleistocene H. erectus teeth (~0.4 Ma) from the Zhoukoudian, Hexian, and Sunjiadong sites. Further in-depth paleoproteomic analyses revealed the following breakthroughs. First, a quantitative sex determination pipeline was established based on male-specific amelogenin, Y isoform (AMELY), confirming that five of these specimens are male and one is female. Second, two genetically specific amino acid variants in ameloblastin (AMBN) were identified in all specimens from three sites. One is a newly discovered variant, AMBN-253G, which has not been found in any other archaic or modern human populations. It represents a molecular marker specific to the East Asian Middle Pleistocene H. erectus lineage, providing solid evidence that H. erectus specimens from Zhoukoudian, Hexian, and Sunjiadong sites belonged to the same evolutionary lineage. The other variant, AMBN-273V, has previously been identified in Denisovans. However, genetic analysis in this study reveals that this variant may have been introduced into Denisovans through populations related to these Middle Pleistocene H. erectus, and some of which subsequently contributed to certain modern human populations from Southeast Asia or Oceania. This study obtains lineage-specific molecular information from Homo erectus fossils for the first time, and reshapes our understanding of hominin evolution and the history of genetic admixture in East Asia.

Key words: Homo erectus, paleoproteomics, Zhoukoudian, Hexian, Sunjiadong

邹紫仪, 饶慧芸, 付巧妹. 古蛋白质组学研究揭示东亚中更新世直立人遗传特征[J]. 遗传, 2026, 48(8): 753-758.

Ziyi Zou, Huiyun Rao, Qiaomei Fu. Paleoproteomics reveal the genetic characteristics of Middle Pleistocene Homo erectus in East Asia[J]. Hereditas(Beijing), 2026, 48(8): 753-758.

图/表 1

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古蛋白质组学研究揭示东亚中更新世直立人遗传特征

Paleoproteomics reveal the genetic characteristics of Middle Pleistocene Homo erectus in East Asia

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