高重组基因组区域影响基于祖先重组图的人口统计学推断。

IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY
Genetics Pub Date : 2025-03-17 DOI:10.1093/genetics/iyaf004
Jun Ishigohoka, Miriam Liedvogel
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引用次数: 0

摘要

基于祖先重组图的人口统计推断方法多种多样。这种强大的方法利用观察到的突变来模拟当地的家谱,这些家谱是通过历史重组事件沿着染色体变化的。然而,在重组率相对于突变率高的区域,由于缺乏代表谱系的突变,对潜在谱系的推断是困难的。尽管高重组基因组区域在某些生物(如鸟类)中普遍存在,但其对基于祖先重组图的人口统计学推断的影响尚未得到很好的研究。在此,我们使用种群基因组模拟来研究高重组区域对基于祖先重组图的人口统计推断的影响。我们证明,当高重组区域覆盖较宽的染色体宽度时,有效群体大小和群体分裂事件时间的推断会受到系统的影响。排除高重组基因组区域实际上可以减轻这种影响,并且重组图谱的群体基因组推断在定义这些区域时提供了信息,但是局部重组率的估计值可能无法用于此决策。最后,我们通过对比欧亚黑帽(Sylvia atricapilla)这一鸟类物种的人口统计学推断,利用高重组率和低重组率的基因组不同部分,在实证分析中证实了我们研究结果的相关性。我们的研究结果表明,基于祖先重组图的人口统计学推断方法在应用于基因组包含长段高重组区域的物种时应谨慎进行。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
High-recombining genomic regions affect demography inference based on ancestral recombination graphs.

Multiple methods of demography inference are based on the ancestral recombination graph. This powerful approach uses observed mutations to model local genealogies changing along chromosomes by historical recombination events. However, inference of underlying genealogies is difficult in regions with high recombination rate relative to mutation rate due to the lack of mutations representing genealogies. Despite the prevalence of high-recombining genomic regions in some organisms, such as birds, its impact on demography inference based on ancestral recombination graphs has not been well studied. Here, we use population genomic simulations to investigate the impact of high-recombining regions on demography inference based on ancestral recombination graphs. We demonstrate that inference of effective population size and the time of population split events is systematically affected when high-recombining regions cover wide breadths of the chromosomes. Excluding high-recombining genomic regions can practically mitigate this impact, and population genomic inference of recombination maps is informative in defining such regions although the estimated values of local recombination rate can be biased. Finally, we confirm the relevance of our findings in empirical analysis by contrasting demography inferences applied for a bird species, the Eurasian blackcap (Sylvia atricapilla), using different parts of the genome with high and low recombination rates. Our results suggest that demography inference methods based on ancestral recombination graphs should be carried out with caution when applied in species whose genomes contain long stretches of high-recombining regions.

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来源期刊
Genetics
Genetics GENETICS & HEREDITY-
CiteScore
6.90
自引率
6.10%
发文量
177
审稿时长
1.5 months
期刊介绍: GENETICS is published by the Genetics Society of America, a scholarly society that seeks to deepen our understanding of the living world by advancing our understanding of genetics. Since 1916, GENETICS has published high-quality, original research presenting novel findings bearing on genetics and genomics. The journal publishes empirical studies of organisms ranging from microbes to humans, as well as theoretical work. While it has an illustrious history, GENETICS has changed along with the communities it serves: it is not your mentor''s journal. The editors make decisions quickly – in around 30 days – without sacrificing the excellence and scholarship for which the journal has long been known. GENETICS is a peer reviewed, peer-edited journal, with an international reach and increasing visibility and impact. All editorial decisions are made through collaboration of at least two editors who are practicing scientists. GENETICS is constantly innovating: expanded types of content include Reviews, Commentary (current issues of interest to geneticists), Perspectives (historical), Primers (to introduce primary literature into the classroom), Toolbox Reviews, plus YeastBook, FlyBook, and WormBook (coming spring 2016). For particularly time-sensitive results, we publish Communications. As part of our mission to serve our communities, we''ve published thematic collections, including Genomic Selection, Multiparental Populations, Mouse Collaborative Cross, and the Genetics of Sex.
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