Background

Variations in the human genome have been studied extensively. However, little is known about the role of micro-inversions (MIs), generally defined as small (< 100 bp) inversions, in human evolution, diversity, and health. Depicting the pattern of MIs among diverse populations is critical for interpreting human evolutionary history and obtaining insight into genetic diseases.

Results

In this paper, we explored the distribution of MIs in genomes from 26 human populations and 7 nonhuman primate genomes and analyzed the phylogenetic structure of the 26 human populations based on the MIs. We further investigated the functions of the MIs located within genes associated with human health. With hg19 as the reference genome, we detected 6968 MIs among the 1937 human samples and 24,476 MIs among the 7 nonhuman primate genomes. The analyses of MIs in human genomes showed that the MIs were rarely located in exonic regions. Nonhuman primates and human populations shared only 82 inverted alleles, and Africans had the most inverted alleles in common with nonhuman primates, which was consistent with the “Out of Africa” hypothesis. The clustering of MIs among the human populations also coincided with human migration history and ancestral lineages.

Conclusions

We propose that MIs are potential evolutionary markers for investigating population dynamics. Our results revealed the diversity of MIs in human populations and showed that they are essential to construct human population relationships and have a potential effect on human health.

中文翻译：

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微倒置的景观为人类的种群遗传分析提供了线索。

背景

人类基因组的变异已被广泛研究。然而，人们对微倒置 (MI)（通常定义为小（< 100 bp）倒置）在人类进化、多样性和健康中的作用知之甚少。描绘不同人群中 MI 的模式对于解释人类进化历史和深入了解遗传疾病至关重要。

结果

在本文中，我们探索了 MIs 在来自 26 个人类种群和 7 个非人类灵长类动物基因组的基因组中的分布，并基于 MIs 分析了 26 个人类种群的系统发育结构。我们进一步研究了位于与人类健康相关的基因内的 MI 的功能。以 hg19 作为参考基因组，我们在 1937 个人类样本中检测到 6968 个 MIs，在 7 个非人类灵长类动物基因组中检测到 24,476 个 MIs。人类基因组中 MI 的分析表明 MI 很少位于外显子区域。非人灵长类动物和人类种群只有82个倒转等位基因，非洲人与非人灵长类动物共有最多倒转等位基因，这与“走出非洲”假说是一致的。

结论

我们建议 MIs 是研究种群动态的潜在进化标记。我们的研究结果揭示了人群中 MI 的多样性，并表明它们对于构建人群关系至关重要，并对人类健康具有潜在影响。