基因组进化过程中的基因丢失机制与功能研究进展

doi:10.13560/j.cnki.biotech.bull.1985.2024-1239

摘要/Abstract

摘要：

基因丢失在生物中广泛存在，是基因组进化的重要机制，对生物的环境适应和物种分化具有重要意义。然而，基因丢失如何发生以及会造成怎样影响等尚未完全阐明。本文综述了基因丢失的分子机制、功能和偏好性等方面的研究进展。基因丢失主要由DNA复制错误、转座活动和染色体结构变异等内在机制引发，并受到遗传漂变和自然选择等进化因素的影响。基因丢失可能通过优化资源利用、简化代谢途径和增强环境适应性，从而提高生物的生存和繁殖能力。然而，关键功能基因的丢失可能削弱生物对环境变化的适应能力，并进一步增加生存风险。基因丢失表现出非随机的偏好性，受基因功能、表达水平、剂量敏感性、基因组位置和蛋白质网络结构等因素影响。基因丢失与基因复制、水平基因转移等机制相互作用，共同维持了基因组“获得-丢失”的动态平衡。未来研究应进一步关注基因丢失的代价与风险，解析其在调控适应性策略中的具体机制及其对环境适应的影响，并探讨其在物种分化和适应性进化中的作用，从而推动其在遗传及生物工程育种等领域的应用。

关键词: 基因丢失, 基因组进化, 适应性进化, 基因功能, 丢失偏好性

Abstract:

Gene loss is widespread among organisms and is one of crucial mechanisms in the evolution of genomes, contributing significantly to environmental adaptation and speciation. However, how gene loss happens and its implications remain unclear. This review synthesizes research progress in understanding the molecular mechanisms, functional consequences, and bias patterns of gene loss. Gene loss primarily arises from intrinsic mechanisms such as DNA replication errors, transposon activities, and chromosome structural variations, with additional influences from genetic drift, natural selection and other evolutionary forces. While gene loss can enhance the survival and reproductive capacities of organisms by optimizing resource utilization, streamlining metabolic pathways, and improving environmental adaptability, it likely inhibits adaptive flexibility to environmental changes due to the loss of critical functional genes, thereby increasing survival risks. Gene loss demonstrates non-random preferences, which is influenced by gene function, expression level, dosage sensitivity, genomic location, and protein network topology. Gene loss interacts with gene duplication, horizontal gene transfer (HGT) and other mechanisms to maintain a dynamic balance between genome reduction and expansion. In the future, it is essential to investigate the trade-offs and risks associated with gene loss, to clarify the mechanisms of gene loss in regulating adaptive strategies and its impacts on environmental adaptation, particularly in speciation and adaptive evolution, and ultimately to advance its applications in genetic and bioengineering breeding.

Key words: gene loss, genome evolution, adaptive evolution, gene function, loss bias

周熠, 刘勇波. 基因组进化过程中的基因丢失机制与功能研究进展[J]. 生物技术通报, 2025, 41(6): 38-48.

ZHOU Yi, LIU Yong-bo. Research Progress in the Mechanisms and Functions of Gene Loss in Genome Evolution[J]. Biotechnology Bulletin, 2025, 41(6): 38-48.

图/表 2

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物种 Species	基因组大小 Genome size （Gb）	基因 Gene	丢失机制 Loss mechanisms	参考文献 Reference
人类 Homo sapiens	约3.1	L-古洛糖酸内酯氧化酶	基因失活，无法自行合成维生素 C	［56］
裸鼹鼠 Heterocephalus glaber	约2.5	气味感知能力下降，依赖其他感官	地下生活减少嗅觉依赖，气味基因丢失，触觉或听觉增强	［55］
蝾螈 Salamandridae	14-130	增强再生能力	基因丢失降低炎症反应，提高组织再生能力	［51］
冰鱼 Channichthyidae	-	血红蛋白基因	基因缺失和假基因化影响氧气运输	［53］
海豚 Delphinidae	约2.5	嗅觉受体基因	水生环境嗅觉依赖性降低，相关基因假基因化	［57］
墨西哥盲洞鱼 Astyanax mexicanus	约1.4	眼发育基因（如视蛋白基因）	黑暗环境中视觉基因丢失或突变	［16］
鸡 Gallus gallus	约1.0	牙釉质基因（如牙釉蛋白基因）	牙齿退化导致牙釉质基因丢失	［58］
须鲸 Mysticeti	-	牙发育基因	从牙齿到鲸须的进化过渡中，相关基因假基因化	［59］
大熊猫 Ailuropoda melanoleuca	约2.4	Tas1r1基因	鲜味受体基因假基因化，导致鲜味感知丧失	［54］
象鸟 Aepyornithidae	-	与飞行相关基因（如肌肉发育基因）	不飞行导致相关基因丢失和突变	［60］

物种 Species	基因组大小 Genome size （Gb）	基因 Gene	丢失机制 Loss mechanisms	参考文献 Reference
人类 Homo sapiens	约3.1	L-古洛糖酸内酯氧化酶	基因失活，无法自行合成维生素 C	［56］
裸鼹鼠 Heterocephalus glaber	约2.5	气味感知能力下降，依赖其他感官	地下生活减少嗅觉依赖，气味基因丢失，触觉或听觉增强	［55］
蝾螈 Salamandridae	14-130	增强再生能力	基因丢失降低炎症反应，提高组织再生能力	［51］
冰鱼 Channichthyidae	-	血红蛋白基因	基因缺失和假基因化影响氧气运输	［53］
海豚 Delphinidae	约2.5	嗅觉受体基因	水生环境嗅觉依赖性降低，相关基因假基因化	［57］
墨西哥盲洞鱼 Astyanax mexicanus	约1.4	眼发育基因（如视蛋白基因）	黑暗环境中视觉基因丢失或突变	［16］
鸡 Gallus gallus	约1.0	牙釉质基因（如牙釉蛋白基因）	牙齿退化导致牙釉质基因丢失	［58］
须鲸 Mysticeti	-	牙发育基因	从牙齿到鲸须的进化过渡中，相关基因假基因化	［59］
大熊猫 Ailuropoda melanoleuca	约2.4	Tas1r1基因	鲜味受体基因假基因化，导致鲜味感知丧失	［54］
象鸟 Aepyornithidae	-	与飞行相关基因（如肌肉发育基因）	不飞行导致相关基因丢失和突变	［60］

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