Institute of Computational Life Sciences, School of Life Sciences and Facility Management, Zürich University of Applied Sciences, Wädenswil, Switzerland.
Department of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.
J Evol Biol. 2023 Feb;36(2):321-336. doi: 10.1111/jeb.14106. Epub 2022 Oct 26.
Short tandem repeats (STRs) are units of 1-6 bp that repeat in a tandem fashion in DNA. Along with single nucleotide polymorphisms and large structural variations, they are among the major genomic variants underlying genetic, and likely phenotypic, divergence. STRs experience mutation rates that are orders of magnitude higher than other well-studied genotypic variants. Frequent copy number changes result in a wide range of alleles, and provide unique opportunities for modulating complex phenotypes through variation in repeat length. While classical studies have identified key roles of individual STR loci, the advent of improved sequencing technology, high-quality genome assemblies for diverse species, and bioinformatics methods for genome-wide STR analysis now enable more systematic study of STR variation across wide evolutionary ranges. In this review, we explore mutation and selection processes that affect STR copy number evolution, and how these processes give rise to varying STR patterns both within and across species. Finally, we review recent examples of functional and adaptive changes linked to STRs.
短串联重复序列（STRs）是 1-6bp 的单位，在 DNA 中以串联方式重复。与单核苷酸多态性和大片段结构变异一起，它们是遗传和可能表型分化的主要基因组变异之一。STR 经历的突变率比其他经过充分研究的基因型变异高出几个数量级。频繁的拷贝数变化导致了广泛的等位基因，并通过重复长度的变化提供了调节复杂表型的独特机会。虽然经典研究已经确定了单个 STR 位点的关键作用，但随着改进的测序技术、不同物种的高质量基因组组装以及用于全基因组 STR 分析的生物信息学方法的出现，现在可以更系统地研究跨越广泛进化范围的 STR 变异。在这篇综述中，我们探讨了影响 STR 拷贝数进化的突变和选择过程，以及这些过程如何在物种内和物种间产生不同的 STR 模式。最后，我们回顾了与 STR 相关的功能和适应性变化的最近实例。
