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从全基因组数据推断平衡选择。

Inferring Balancing Selection From Genome-Scale Data.

机构信息

Biology Department, Bryn Mawr College, Bryn Mawr, Pennsylvania.

Department of Integrative Biology, University of California, Berkeley, Berkeley, California.

出版信息

Genome Biol Evol. 2023 Mar 3;15(3). doi: 10.1093/gbe/evad032.

Abstract

The identification of genomic regions and genes that have evolved under natural selection is a fundamental objective in the field of evolutionary genetics. While various approaches have been established for the detection of targets of positive selection, methods for identifying targets of balancing selection, a form of natural selection that preserves genetic and phenotypic diversity within populations, have yet to be fully developed. Despite this, balancing selection is increasingly acknowledged as a significant driver of diversity within populations, and the identification of its signatures in genomes is essential for understanding its role in evolution. In recent years, a plethora of sophisticated methods has been developed for the detection of patterns of linked variation produced by balancing selection, such as high levels of polymorphism, altered allele-frequency distributions, and polymorphism sharing across divergent populations. In this review, we provide a comprehensive overview of classical and contemporary methods, offer guidance on the choice of appropriate methods, and discuss the importance of avoiding artifacts and of considering alternative evolutionary processes. The increasing availability of genome-scale datasets holds the potential to assist in the identification of new targets and the quantification of the prevalence of balancing selection, thus enhancing our understanding of its role in natural populations.

摘要

鉴定在自然选择下进化的基因组区域和基因是进化遗传学领域的一个基本目标。虽然已经建立了各种方法来检测正选择的靶标,但用于识别平衡选择靶标的方法(一种在种群内保留遗传和表型多样性的自然选择形式)尚未完全开发。尽管如此,平衡选择越来越被认为是种群内多样性的重要驱动因素,识别基因组中的平衡选择特征对于理解其在进化中的作用至关重要。近年来,已经开发出了大量用于检测由平衡选择产生的连锁变异模式的复杂方法,例如高水平的多态性、改变的等位基因频率分布以及不同种群之间的多态性共享。在这篇综述中,我们提供了对经典和现代方法的全面概述,提供了选择适当方法的指导,并讨论了避免人工制品和考虑替代进化过程的重要性。随着基因组规模数据集的日益普及,它有可能有助于识别新的靶标并量化平衡选择的普遍性,从而增强我们对其在自然种群中的作用的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d02/10063222/10399bbc1d58/evad032f1.jpg

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