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帕特森 F 统计量中姐妹排斥现象的解释。

An explanation for the sister repulsion phenomenon in Patterson's f-statistics.

机构信息

Department of Biological Sciences, Middle East Technical University, Ankara 06800, Turkey.

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany.

出版信息

Genetics. 2024 Nov 6;228(3). doi: 10.1093/genetics/iyae144.

DOI:10.1093/genetics/iyae144
PMID:39292210
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11538414/
Abstract

Patterson's f-statistics are among the most heavily utilized tools for analyzing genome-wide allele frequency data for demographic inference. Beyond studying admixture, f3- and f4-statistics are also used for clustering populations to identify groups with similar histories. However, previous studies have noted an unexpected behavior of f-statistics: multiple populations from a certain region systematically show higher genetic affinity to a more distant population than to their neighbors, a pattern that is mismatched with alternative measures of genetic similarity. We call this counter-intuitive pattern "sister repulsion". We first present a novel instance of sister repulsion, where genomes from Bronze Age East Anatolian sites show higher affinity toward Bronze Age Greece rather than each other. This is observed both using f3- and f4-statistics, contrasts with archaeological/historical expectation, and also contradicts genetic affinity patterns captured using principal components analysis or multidimensional scaling on genetic distances. We then propose a simple demographic model to explain this pattern, where sister populations receive gene flow from a genetically distant source. We calculate f3- and f4-statistics using simulated genetic data with varying population genetic parameters, confirming that low-level gene flow from an external source into populations from 1 region can create sister repulsion in f-statistics. Unidirectional gene flow between the studied regions (without an external source) can likewise create repulsion. Meanwhile, similar to our empirical observations, multidimensional scaling analyses of genetic distances still cluster sister populations together. Overall, our results highlight the impact of low-level admixture events when inferring demographic history using f-statistics.

摘要

帕特森的 F 统计量是分析全基因组等位基因频率数据以进行人口统计推断的最常用工具之一。除了研究混合之外,f3 和 f4 统计量也用于聚类群体以识别具有相似历史的群体。然而,先前的研究注意到 F 统计量的一种意外行为:来自某个特定地区的多个群体系统地显示出与更遥远的群体比与邻居更高的遗传亲和力,这种模式与遗传相似性的替代度量标准不匹配。我们称这种反直觉的模式为“姐妹排斥”。我们首先提出了一个姐妹排斥的新实例,即青铜时代东安纳托利亚遗址的基因组与青铜时代希腊而不是彼此之间表现出更高的亲和力。这两种情况都可以使用 f3 和 f4 统计量观察到,与考古学/历史预期相矛盾,也与基于遗传距离的主成分分析或多维标度的遗传亲和力模式相矛盾。然后,我们提出了一个简单的人口统计模型来解释这种模式,其中姐妹群体从遗传上遥远的来源获得基因流。我们使用具有不同人口遗传参数的模拟遗传数据计算 f3 和 f4 统计量,证实了来自一个外部来源的低水平基因流进入一个地区的群体可以在 f 统计量中产生姐妹排斥。研究区域之间的单向基因流(没有外部来源)也可以产生排斥。同时,与我们的经验观察相似,遗传距离多维标度分析仍然将姐妹群体聚类在一起。总的来说,我们的结果强调了在使用 F 统计量推断人口历史时,低水平混合事件的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c15a/11538414/b105266322b1/iyae144f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c15a/11538414/c9c6a67cd311/iyae144f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c15a/11538414/407f5daccffb/iyae144f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c15a/11538414/b6630a996d1f/iyae144f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c15a/11538414/b105266322b1/iyae144f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c15a/11538414/c9c6a67cd311/iyae144f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c15a/11538414/407f5daccffb/iyae144f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c15a/11538414/b6630a996d1f/iyae144f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c15a/11538414/b105266322b1/iyae144f4.jpg

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