The Genome Center, University of California, Davis, California 95616, USA; email:
Department of Evolution and Ecology, College of Biological Sciences, University of California, Davis, California 95616, USA.
Annu Rev Anim Biosci. 2021 Feb 16;9:1-27. doi: 10.1146/annurev-animal-020518-114924. Epub 2020 Nov 13.
The study of chromosome evolution is undergoing a resurgence of interest owing to advances in DNA sequencing technology that facilitate the production of chromosome-scale whole-genome assemblies de novo. This review focuses on the history, methods, discoveries, and current challenges facing the field, with an emphasis on vertebrate genomes. A detailed examination of the literature on the biology of chromosome rearrangements is presented, specifically the relationship between chromosome rearrangements and phenotypic evolution, adaptation, and speciation. A critical review of the methods for identifying, characterizing, and visualizing chromosome rearrangements and computationally reconstructing ancestral karyotypes is presented. We conclude by looking to the future, identifying the enormous technical and scientific challenges presented by the accumulation of hundreds and eventually thousands of chromosome-scale assemblies.
由于 DNA 测序技术的进步，使得从头生成染色体规模的全基因组组装成为可能，因此，对染色体进化的研究再次受到关注。本综述重点介绍了该领域的历史、方法、发现和当前面临的挑战，重点关注脊椎动物基因组。本文详细研究了染色体重排生物学的文献，特别是染色体重排与表型进化、适应和物种形成之间的关系。本文还对识别、描述和可视化染色体重排以及计算重建祖先核型的方法进行了批判性评估。最后，我们展望未来，确定了由数百个甚至数千个染色体规模的组装积累所带来的巨大技术和科学挑战。
