Recombination and phylogenetic inference.

Evolutionary journal of the Linnean Society Pub Date : 2025-08-21 eCollection Date: 2025-01-01 DOI:10.1093/evolinnean/kzaf016
Bruce Rannala
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Abstract

I explore the problem of inferring phylogenetic trees in the presence of recombination. Two widely used approaches are considered: concatenation methods assume all loci have one underlying gene tree; and species tree inference methods assume one gene tree underlies each locus (no intralocus recombination) and loci have independent gene trees (high interlocus recombination). The impact of recombination is different under these two approaches. Three strategies for addressing the impacts of recombination are considered: (i) studies of the statistical robustness of phylogenetic inference methods when recombination occurs and is not accounted for (if impacts are minimal, recombination can be safely ignored); (ii) methods that accommodate recombination by identifying recombinant regions to either eliminate recombinant loci (to reduce intralocus recombination) or to choose loci that are separated by multiple recombinations (to increase interlocus recombination); and (iii) methods for phylogenetic inference that aim to accommodate recombination by inferring breakpoints between regions of sequences with different gene trees or allow varying topology along a sequence. I conclude that recombination is likely to be more detrimental for concatenation methods, having little impact on topology or divergence time estimates for species tree inference methods. Recombination detection may not be necessary when performing species tree inference, and eliminating recombinant loci may bias parameter estimates. Methods allowing gene trees to vary across the genome still lack theory-based criteria for combining inferred gene trees to estimate a species tree; this could in principle be done using a multispecies coalescent model with recombination but is a considerable technical challenge.

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重组和系统发育推断。
我探讨了在存在重组的情况下推断系统发育树的问题。考虑了两种广泛使用的方法:串联方法假设所有基因座都有一个潜在的基因树;种树推断方法假设每个位点有一个基因树(无位点内重组),每个位点有独立的基因树(高位点间重组)。在这两种方法下,重组的影响是不同的。本文考虑了解决重组影响的三种策略:(i)研究系统发育推断方法在重组发生且未被考虑时的统计稳健性(如果影响很小,可以安全地忽略重组);(ii)通过识别重组区域来消除重组基因座(减少基因座内重组)或选择被多次重组分离的基因座(增加基因座间重组)来适应重组的方法;(iii)旨在通过推断具有不同基因树的序列区域之间的断点或允许沿序列变化拓扑结构来适应重组的系统发育推断方法。我的结论是,重组可能对连接方法更有害,对物种树推断方法的拓扑或发散时间估计影响很小。在进行物种树推断时可能不需要重组检测,并且消除重组位点可能会影响参数估计。允许基因树在整个基因组中变化的方法仍然缺乏基于理论的标准来结合推断的基因树来估计物种树;原则上,这可以通过多物种合并重组模型来实现,但这是一个相当大的技术挑战。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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