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人类与黑猩猩基因组之间的差异及其对这两个物种基因表达、蛋白质功能和生化特性的影响。

Differences between human and chimpanzee genomes and their implications in gene expression, protein functions and biochemical properties of the two species.

作者信息

Suntsova Maria V, Buzdin Anton A

机构信息

Institute for personalized medicine, I.M. Sechenov First Moscow State Medical University, Trubetskaya 8, Moscow, Russia.

Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry of the Russian Academy of Sciences, Miklukho-Maklaya, 16/10, Moscow, Russia.

出版信息

BMC Genomics. 2020 Sep 10;21(Suppl 7):535. doi: 10.1186/s12864-020-06962-8.

Abstract

Chimpanzees are the closest living relatives of humans. The divergence between human and chimpanzee ancestors dates to approximately 6,5-7,5 million years ago. Genetic features distinguishing us from chimpanzees and making us humans are still of a great interest. After divergence of their ancestor lineages, human and chimpanzee genomes underwent multiple changes including single nucleotide substitutions, deletions and duplications of DNA fragments of different size, insertion of transposable elements and chromosomal rearrangements. Human-specific single nucleotide alterations constituted 1.23% of human DNA, whereas more extended deletions and insertions cover ~ 3% of our genome. Moreover, much higher proportion is made by differential chromosomal inversions and translocations comprising several megabase-long regions or even whole chromosomes. However, despite of extensive knowledge of structural genomic changes accompanying human evolution we still cannot identify with certainty the causative genes of human identity. Most structural gene-influential changes happened at the level of expression regulation, which in turn provoked larger alterations of interactome gene regulation networks. In this review, we summarized the available information about genetic differences between humans and chimpanzees and their potential functional impacts on differential molecular, anatomical, physiological and cognitive peculiarities of these species.

摘要

黑猩猩是现存与人类亲缘关系最近的物种。人类和黑猩猩祖先的分化可追溯到大约650万至750万年前。那些将我们与黑猩猩区分开来并使我们成为人类的遗传特征仍然备受关注。在其祖先谱系分化之后,人类和黑猩猩的基因组经历了多次变化,包括单核苷酸替换、不同大小DNA片段的缺失和重复、转座元件的插入以及染色体重排。人类特有的单核苷酸改变占人类DNA的1.23%,而更广泛的缺失和插入覆盖了我们基因组的约3%。此外,由包含几个兆碱基长区域甚至整条染色体的差异染色体倒位和易位所占的比例要高得多。然而,尽管我们对伴随人类进化的结构基因组变化有广泛了解,但我们仍然无法确定人类身份的致病基因。大多数影响结构基因的变化发生在表达调控水平,这反过来又引发了相互作用组基因调控网络的更大改变。在这篇综述中,我们总结了关于人类和黑猩猩之间遗传差异的现有信息,以及它们对这些物种不同分子、解剖、生理和认知特性的潜在功能影响。

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