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首页> 外文期刊>Genetics and molecular biology: publication of the Sociedade Brasileira de Genetica >Homo sapiens, Homo neanderthalensis and the Denisova specimen: new insights on their evolutionary histories using whole-genome comparisons
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Homo sapiens, Homo neanderthalensis and the Denisova specimen: new insights on their evolutionary histories using whole-genome comparisons

机译：智人，尼安德特人和代尼索娃标本：使用全基因组比较对其进化史的新见解

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摘要

After a brief review of the most recent findings in the study of human evolution, an extensive comparison of the complete genomes of our nearest relative, the chimpanzee (Pan troglodytes), of extant Homo sapiens, archaic Homo neanderthalensis and the Denisova specimen were made. The focus was on non-synonymous mutations, which consequently had an impact on protein levels and these changes were classified according to degree of effect. A total of 10,447 non-synonymous substitutions were found in which the derived allele is fixed or nearly fixed in humans as compared to chimpanzee. Their most frequent location was on chromosome 21. Their presence was then searched in the two archaic genomes. Mutations in 381 genes would imply radical amino acid changes, with a fraction of these related to olfaction and other important physiological processes. Eight new alleles were identified in the Neanderthal and/or Denisova genetic pools. Four others, possibly affecting cognition, occured both in the sapiens and two other archaic genomes. The selective sweep that gave rise to Homo sapiens could, therefore, have initiated before the modern/archaic human divergence.
机译：在对人类进化研究的最新发现进行简短回顾之后，我们对近亲黑猩猩（Pan troglodytes），现存的智人，古人类尼安德特人和Denisova标本的完整基因组进行了广泛的比较。重点是非同义突变，因此对蛋白质水平有影响，并且根据影响程度对这些变化进行分类。总共发现了10447个非同义替代，其中与黑猩猩相比，衍生的等位基因在人类中是固定的或几乎固定的。他们最常出现的位置是21号染色体。然后在两个古老的基因组中搜索了它们的存在。 381个基因的突变将暗示自由基氨基酸的变化，其中一部分与嗅觉和其他重要的生理过程有关。在尼安德特人和/或Denisova基因库中鉴定出八个新的等位基因。智人和其他两个古老的基因组中都出现了另外四个可能影响认知的现象。因此，引起智人的选择性扫荡可能是在现代/古老的人类分歧之前发起的。

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