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当模式、方向和谱系指定错误时,从基因组数据推断物种间的基因流动

Inference of Gene Flow between Species from Genomic Data When the Mode, Direction, and Lineages are Misspecified.

作者信息

Thawornwattana Yuttapong, Flouri Tomáš, Mallet James, Yang Ziheng

机构信息

Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.

Department of Genetics, Evolution, and Environment, University College London, Gower Street, London WC1E 6BT, UK.

出版信息

Mol Biol Evol. 2025 Jun 4;42(6). doi: 10.1093/molbev/msaf121.

DOI:10.1093/molbev/msaf121
PMID:40575924
Abstract

Thanks to genomic data, interspecific gene flow is increasingly recognized as a major evolutionary force that shapes biodiversity. Two models have been developed in the multispecies coalescent (MSC) framework to infer gene flow from genomic data, assuming either constant-rate continuous migration (MSC-M) or discrete introgression/hybridization (MSC-I). The extreme simplicity of these models raises concerns about their usefulness as they represent misspecified models when applied to real data. Here, we study inference of gene flow under the MSC-M model, considering mis-assignment of gene flow onto incorrect parental or daughter lineages, misspecification of the direction of gene flow, and misspecification of the mode of gene flow. Mis-assignment of gene flow to an incorrect lineage causes large biases in the estimated rates. The Bayesian test has high power for inferring both recent and ancient gene flow, between either sister lineages or nonsister lineages, although misspecification of the direction of gene flow may make it hard to distinguish early divergence with gene flow from recent complete isolation. Misspecification of the mode of gene flow (MSC-I versus MSC-M) has small local effects, and gene flow is detected with high power despite the misspecification. We analyze a genomic dataset from the purple cone spruce (Picea spp., Pinaceae), which putatively arose through homoploid hybrid speciation, to demonstrate practical implications of our theoretical analyses. Overall, we find that the extremely idealized models of gene flow (in particular the discrete MSC-I model) are very effective for extracting information about species divergence and gene flow from genomic data.

摘要

得益于基因组数据,种间基因流日益被视为塑造生物多样性的一种主要进化力量。在多物种溯祖(MSC)框架下,已开发出两种模型来从基因组数据推断基因流,一种假设为恒定速率的连续迁移(MSC-M),另一种假设为离散的渐渗/杂交(MSC-I)。这些模型极其简单,这引发了人们对其效用的担忧,因为当应用于实际数据时,它们代表了错误设定的模型。在此,我们研究在MSC-M模型下基因流的推断,考虑基因流错误分配到不正确的亲本或子代谱系、基因流方向的错误设定以及基因流模式的错误设定。将基因流错误分配到不正确的谱系会导致估计速率出现很大偏差。贝叶斯检验在推断姐妹谱系或非姐妹谱系之间近期和古代的基因流方面具有很高的功效,尽管基因流方向的错误设定可能使得难以区分有基因流的早期分化与近期的完全隔离。基因流模式的错误设定(MSC-I与MSC-M)具有较小的局部影响,并且尽管存在错误设定,基因流仍能被高效检测到。我们分析了来自紫果云杉(松科云杉属)的一个基因组数据集,该数据集推测是通过同倍体杂交物种形成产生的,以证明我们理论分析的实际意义。总体而言,我们发现基因流的极其理想化的模型(特别是离散的MSC-I模型)对于从基因组数据中提取有关物种分化和基因流的信息非常有效。

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本文引用的文献

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Inference of Cross-Species Gene Flow Using Genomic Data Depends on the Methods: Case Study of Gene Flow in Drosophila.使用基因组数据推断跨物种基因流取决于方法:果蝇基因流的案例研究。
Syst Biol. 2025 May 27. doi: 10.1093/sysbio/syaf019.
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Anomalous networks under the multispecies coalescent: theory and prevalence.多物种合并下的异常网络:理论与流行。
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Detection of Ghost Introgression Requires Exploiting Topological and Branch Length Information.检测幽灵渐渗需要利用拓扑和分支长度信息。
Syst Biol. 2024 May 27;73(1):207-222. doi: 10.1093/sysbio/syad077.
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Major patterns in the introgression history of butterflies.蝴蝶基因渗入历史的主要模式。
Elife. 2023 Dec 18;12:RP90656. doi: 10.7554/eLife.90656.
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Efficient Bayesian inference under the multispecies coalescent with migration.具有迁移的多物种合并下的有效贝叶斯推断。
Proc Natl Acad Sci U S A. 2023 Oct 31;120(44):e2310708120. doi: 10.1073/pnas.2310708120. Epub 2023 Oct 23.
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Inferring the Direction of Introgression Using Genomic Sequence Data.利用基因组序列数据推断基因渐渗的方向。
Mol Biol Evol. 2023 Aug 3;40(8). doi: 10.1093/molbev/msad178.
7
Comparing inference under the multispecies coalescent with and without recombination.比较有无重组情况下多物种合并模型下的推断。
Mol Phylogenet Evol. 2023 Apr;181:107724. doi: 10.1016/j.ympev.2023.107724. Epub 2023 Jan 28.
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Power of Bayesian and Heuristic Tests to Detect Cross-Species Introgression with Reference to Gene Flow in the Tamias quadrivittatus Group of North American Chipmunks.贝叶斯和启发式检验在检测跨物种渐渗中的作用——以北美的花栗鼠族基因流为例。
Syst Biol. 2023 Jun 16;72(2):446-465. doi: 10.1093/sysbio/syac077.
9
Inference of Gene Flow between Species under Misspecified Models.物种间模型误设下基因流动的推断。
Mol Biol Evol. 2022 Dec 5;39(12). doi: 10.1093/molbev/msac237.
10
What is reproductive isolation?什么是生殖隔离?
J Evol Biol. 2022 Sep;35(9):1143-1164. doi: 10.1111/jeb.14005.