Genetic diversity in humans and non-human primates and its evolutionary consequences
Genetic diversity in humans and non-human primates and its evolutionary consequences
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DOI：
10.1266/ggs.90.133
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发表时间：
2015-06-01
影响因子：
1.1
通讯作者：
Osada, Naoki
中科院分区：
文献类型：
--
作者：
Osada, Naoki
遗传多样性是种群遗传学中的一个关键参数，对于理解进化过程和制定适当的保护策略非常重要。测序技术的最新进展使人们能够在核苷酸水平和全基因组范围内测量各种生物的遗传多样性，从而产生比以前更准确的估计。在这篇综述中，我基于最近的全基因组研究汇编和总结了对人类和非人类灵长类动物遗传多样性的估计。尽管对种群遗传学的研究表明，种群规模会随着时间的推移而波动，但总体模式已经出现。如前所述，人类的遗传多样性是灵长类动物中最低的之一；然而，其他某些灵长类物种的遗传多样性与人类相当，甚至低于人类。灵长类物种间的遗传多样性存在10倍以上的变异，我发现与物种繁殖力的相关性很弱，但与个体或繁殖体的大小无关。我进一步讨论了种群规模下降对灵长类物种进化的潜在进化后果。遗传多样性水平与群体中非同义多态和同义多态的比率呈负相关，这表明在小群体中分离的轻微有害突变的比例更大。虽然种群规模下降可能促进轻微有害突变的固定，但存在分子机制，如在不同分子水平上的补偿性突变，这可能防止种群水平上的适应度下降。本文还讨论了来自理论和经验研究的轻微有害突变的影响以及它们与保护生物学的相关性。
Genetic diversity is a key parameter in population genetics and is important for understanding the process of evolution and for the development of appropriate conservation strategies. Recent advances in sequencing technology have enabled the measurement of genetic diversity of various organisms at the nucleotide level and on a genome-wide scale, yielding more precise estimates than were previously achievable. In this review, I have compiled and summarized the estimates of genetic diversity in humans and non-human primates based on recent genome-wide studies. Although studies on population genetics demonstrated fluctuations in population sizes over time, general patterns have emerged. As shown previously, genetic diversity in humans is one of the lowest among primates; however, certain other primate species exhibit genetic diversity that is comparable to or even lower than that in humans. There exists greater than 10-fold variation in genetic diversity among primate species, and I found weak correlation with species fecundity but not with body or propagule size. I further discuss the potential evolutionary consequences of population size decline on the evolution of primate species. The level of genetic diversity negatively correlates with the ratio of non-synonymous to synonymous polymorphisms in a population, suggesting that proportionally greater numbers of slightly deleterious mutations segregate in small rather than large populations. Although population size decline is likely to promote the fixation of slightly deleterious mutations, there are molecular mechanisms, such as compensatory mutations at various molecular levels, which may prevent fitness decline at the population level. The effects of slightly deleterious mutations from theoretical and empirical studies and their relevance to conservation biology are also discussed in this review.