MtDNA 基因组揭示了末次冰川极盛期后人类种群扩张过程中宽松的净化选择。

IF 11 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Molecular biology and evolution Pub Date : 2024-09-04 DOI:10.1093/molbev/msae175
Hong-Xiang Zheng, Shi Yan, Menghan Zhang, Zhenglong Gu, Jiucun Wang, Li Jin
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引用次数: 0

摘要

现代人类在过去一千年中经历了爆炸性的人口增长。我们推测,可能是由于末次冰川极盛期之后食物供应更加充足,最近的人类居住在选择性约束放松的环境中。非同义突变与同义突变之比(N/S 比)是衡量选择性约束的一个有用且常见的统计指标。在这项研究中,我们利用总共 26 419 个东欧亚 mtDNA 基因组重建了一棵高分辨率的系统发生树,并根据其创始系的频率将其进一步划分为扩张组和非扩张组。我们观察到扩增组的 N/S 比值要高得多,尤其是具有中度有害效应的非同义突变,这表明在扩增的支系中净化选择的效应较弱。然而,在所有个体都处于相同选择限制条件下的计算机模拟中,N/S 比值不太可能出现这种情况。因此,我们认为,扩大的种群比未扩大的种群受到的选择限制更弱。在种群扩张过程中,轻度有害突变被保留了下来,这可能会对当今的疾病模式产生深远影响。
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Mitochondrial DNA Genomes Reveal Relaxed Purifying Selection During Human Population Expansion after the Last Glacial Maximum.

Modern humans have experienced explosive population growth in the past thousand years. We hypothesized that recent human populations have inhabited environments with relaxation of selective constraints, possibly due to the more abundant food supply after the Last Glacial Maximum. The ratio of nonsynonymous to synonymous mutations (N/S ratio) is a useful and common statistic for measuring selective constraints. In this study, we reconstructed a high-resolution phylogenetic tree using a total of 26,419 East Eurasian mitochondrial DNA genomes, which were further classified into expansion and nonexpansion groups on the basis of the frequencies of their founder lineages. We observed a much higher N/S ratio in the expansion group, especially for nonsynonymous mutations with moderately deleterious effects, indicating a weaker effect of purifying selection in the expanded clades. However, this observation on N/S ratio was unlikely in computer simulations where all individuals were under the same selective constraints. Thus, we argue that the expanded populations were subjected to weaker selective constraints than the nonexpanded populations were. The mildly deleterious mutations were retained during population expansion, which could have a profound impact on present-day disease patterns.

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来源期刊
Molecular biology and evolution
Molecular biology and evolution 生物-进化生物学
CiteScore
19.70
自引率
3.70%
发文量
257
审稿时长
1 months
期刊介绍: Molecular Biology and Evolution Journal Overview: Publishes research at the interface of molecular (including genomics) and evolutionary biology Considers manuscripts containing patterns, processes, and predictions at all levels of organization: population, taxonomic, functional, and phenotypic Interested in fundamental discoveries, new and improved methods, resources, technologies, and theories advancing evolutionary research Publishes balanced reviews of recent developments in genome evolution and forward-looking perspectives suggesting future directions in molecular evolution applications.
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