基因重复驱动的演化：基因组学时代的回顾与展望

doi:10.16288/j.yczz.24-215

遗传 ›› 2025, Vol. 47 ›› Issue (2): 147-171.doi: 10.16288/j.yczz.24-215

• 综述 • 下一篇

基因重复驱动的演化：基因组学时代的回顾与展望

沈洁宇¹^,²(), 苏天晗¹^,²(), 余大奇³, 谭生军¹(), 张勇¹^,²()

1.中国科学院动物研究所，动物进化与系统学院重点实验室，北京 100101
2.中国科学院大学，北京 100049
3.北京星辰集因科技有限责任公司, 北京 100095

收稿日期:2024-07-21 修回日期:2024-09-01 出版日期:2025-02-20 发布日期:2024-10-21
通讯作者: 张勇，博士，研究员，研究方向：演化基因组学。E-mail: zhangyong@ioz.ac.cn;
谭生军，博士，副研究员，研究方向：演化基因组学。E-mail: tanshengjun@ioz.ac.cn
作者简介:沈洁宇，博士研究生，专业方向：演化基因组学。E-mail: shenjieyu@ioz.ac.cn
苏天晗，博士研究生，专业方向：演化基因组学。E-mail: sutianhan17@mails.ucas.ac.cn
第一联系人：
沈洁宇和苏天晗并列第一作者。
基金资助:
国家自然科学基金项目(32325014);国家重点研发计划项目(2019YFA0802600);中国科学院基础前沿科学研究计划(ZDBS-LY-SM005)

Evolution by gene duplication: in the era of genomics

Jieyu Shen¹^,²(), Tianhan Su¹^,²(), Daqi Yu³, Shengjun Tan¹(), Yong E. Zhang¹^,²()

1. Key Laboratory of Zoological Systematics and Evolution, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China
2. University of Chinese Academy of Sciences, Beijing 100049, China
3. AstraGenomics, Beijing 100095, China

Received:2024-07-21 Revised:2024-09-01 Published:2025-02-20 Online:2024-10-21
Supported by:
National Natural Science Foundation of China(32325014);National Key R&D Program of China(2019YFA0802600);Chinese Academy of Sciences(ZDBS-LY-SM005)

摘要/Abstract

摘要：

基因重复指基因组中一个基因通过多样化的分子机制从一个基因拷贝形成两个或多个重复拷贝的过程，是新基因起源的重要途径之一，对真核生物基因组贡献了约为一半的基因，也推动了物种的适应性演化。在过去50年中，特别是近20年进入组学时代以来，演化遗传学领域对于重复基因的产生机制、演化历程与演化动力展开了广泛而深入的讨论。一方面，重复基因的序列相似性带来的功能冗余使机体具有更强的稳健性；另一方面，重复基因的功能分歧带来了新功能与可演化性的提升。本文全面介绍了上述基因重复的机制、重复基因的命运及演化模型，最后展望了三代测序技术、基因编辑等各种高通量技术将进一步推动重复基因在遗传-发育-演化网络中角色的解析。

关键词: 基因重复, 全基因组重复, 逆转录转座, 功能冗余, 新功能化, 亚功能化

Abstract:

Gene duplication is the process of a gene copied via specific molecular mechanisms to form more duplicate genes. As an important approach to the origination of new genes, gene duplication contributes to around half of the genes in eukaryotic genomes, facilitating the adaptive evolution of species. Over the past fifty years, especially since entering the genomics era in the last two decades, there have been extensive and profound discussions on the mechanisms, evolutionary processes and forces behind the emergence of duplicate genes. Sequence similarity of duplicate genes often leads to functional redundancy, enhancing organismal robustness. Conversely, functional divergence can create novel functions and improve evolvability. In this review, we summarize the mechanism of gene duplication, the fate and the evolutionary models of duplicate genes. This article concludes by outlining how long-read sequencing technologies, gene editing, and various other high-throughput techniques will further advance our understanding of the role of duplicate genes in the genetics-development-evolution network.

Key words: gene duplication, whole genome duplication, retroposition, functional redundancy, neofunctionalization, subfunctionalization

沈洁宇, 苏天晗, 余大奇, 谭生军, 张勇. 基因重复驱动的演化：基因组学时代的回顾与展望[J]. 遗传, 2025, 47(2): 147-171.

Jieyu Shen, Tianhan Su, Daqi Yu, Shengjun Tan, Yong E. Zhang. Evolution by gene duplication: in the era of genomics[J]. Hereditas(Beijing), 2025, 47(2): 147-171.

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模式体系	重复基因对负性上位互作率	随机基因对负性上位互作率	实验方法	参考文献
酵母 (S. cerevisiae)	33%~55%	2%	SGA	[113⇓⇓⇓~117]
秀丽隐杆线虫 (C. elegans)	6%	0.6%	RNAi	[118,119]
人细胞系 (H. sapiens)	5%	2%	CRISPR/Cas	[120⇓⇓⇓~124]

基因重复驱动的演化：基因组学时代的回顾与展望

Evolution by gene duplication: in the era of genomics

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