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现代人与古人类区分的单核苷酸变化目录。

A catalog of single nucleotide changes distinguishing modern humans from archaic hominins.

机构信息

Institut de Biologia Evolutiva, (CSIC-Universitat Pompeu Fabra), PRBB, Barcelona, Spain.

ICREA, Barcelona, Spain.

出版信息

Sci Rep. 2019 Jun 11;9(1):8463. doi: 10.1038/s41598-019-44877-x.

Abstract

Throughout the past decade, studying ancient genomes has provided unique insights into human prehistory, and differences between modern humans and other branches like Neanderthals can enrich our understanding of the molecular basis of unique modern human traits. Modern human variation and the interactions between different hominin lineages are now well studied, making it reasonable to go beyond fixed genetic changes and explore changes that are observed at high frequency in present-day humans. Here, we identify 571 genes with non-synonymous changes at high frequency. We suggest that molecular mechanisms in cell division and networks affecting cellular features of neurons were prominently modified by these changes. Complex phenotypes in brain growth trajectory and cognitive traits are likely influenced by these networks and other non-coding changes presented here. We propose that at least some of these changes contributed to uniquely human traits, and should be prioritized for experimental validation.

摘要

在过去的十年中,研究古代基因组为人类史前史提供了独特的见解,而现代人类与尼安德特人等其他分支之间的差异可以丰富我们对独特现代人类特征的分子基础的理解。现代人类的变异和不同人类谱系之间的相互作用现在已经得到了很好的研究,因此可以超越固定的遗传变化,探索在当今人类中高频观察到的变化。在这里,我们确定了 571 个具有高频非同义变化的基因。我们认为,细胞分裂的分子机制和影响神经元细胞特征的网络发生了显著改变。大脑生长轨迹和认知特征等复杂表型可能受到这些网络和这里提出的其他非编码变化的影响。我们提出,至少其中一些变化促成了人类特有的特征,应该优先进行实验验证。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/151d/6560109/70d6ecce4f38/41598_2019_44877_Fig1_HTML.jpg

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