Center for Evolutionary & Organismal Biology and the Fourth Affiliated Hospital of Zhejiang University, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Center for Evolutionary & Organismal Biology and the Fourth Affiliated Hospital of Zhejiang University, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China. E-mail:
Zool Res. 2024 Jul 18;45(4):767-780. doi: 10.24272/j.issn.2095-8137.2024.058.
The mutation rate is a pivotal biological characteristic, intricately governed by natural selection and historically garnering considerable attention. Recent advances in high-throughput sequencing and analytical methodologies have profoundly transformed our understanding in this domain, ushering in an unprecedented era of mutation rate research. This paper aims to provide a comprehensive overview of the key concepts and methodologies frequently employed in the study of mutation rates. It examines various types of mutations, explores the evolutionary dynamics and associated theories, and synthesizes both classical and contemporary hypotheses. Furthermore, this review comprehensively explores recent advances in understanding germline and somatic mutations in animals and offers an overview of experimental methodologies, mutational patterns, molecular mechanisms, and driving forces influencing variations in mutation rates across species and tissues. Finally, it proposes several potential research directions and pressing questions for future investigations.
突变率是一个关键的生物学特征，受到自然选择的精细调控，在历史上一直受到相当多的关注。高通量测序和分析方法的最新进展极大地改变了我们在这一领域的理解，迎来了突变率研究的空前时代。本文旨在全面概述突变率研究中常用的关键概念和方法。它考察了各种类型的突变，探讨了进化动态和相关理论，并综合了经典和现代的假说。此外，本综述还全面探讨了动物种系和体细胞突变理解方面的最新进展，概述了实验方法、突变模式、分子机制以及影响物种和组织间突变率变化的驱动力。最后，它提出了未来研究的几个潜在研究方向和紧迫问题。
