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Differences between human and chimpanzee genomes and their implications in gene expression, protein functions and biochemical properties of the two species.
BMC Genomics ( IF 4.4 ) Pub Date : 2020-09-10 , DOI: 10.1186/s12864-020-06962-8
Maria V Suntsova 1 , Anton A Buzdin 1, 2, 3, 4
Affiliation  

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.

中文翻译:

人类和黑猩猩基因组之间的差异及其对两种物种的基因表达,蛋白质功能和生化特性的影响。

黑猩猩是人类最亲近的亲戚。人类和黑猩猩的祖先之间的分歧可追溯到大约6.5-750万年前。使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引起人们极大的兴趣。人类和黑猩猩的祖先谱系发生分歧后,经历了多种变化,包括单核苷酸取代,不同大小的DNA片段的缺失和重复,转座因子的插入和染色体重排。人类特异性单核苷酸改变占人类DNA的1.23%,而更多的延伸缺失和插入覆盖了我们基因组的约3%。此外,由差异性的染色体倒置和易位构成的比例要高得多,其中包括几个兆碱基长的区域甚至整个染色体。然而,尽管对伴随人类进化的结构基因组变化有广泛的了解,我们仍然不能确定地鉴定人类身份的致病基因。大多数结构基因影响的变化发生在表达调控的水平,这反过来又引起了相互作用基因调控网络的更大变化。在这篇综述中,我们总结了有关人类与黑猩猩之间遗传差异的可用信息,以及它们对这些物种的不同分子,解剖,生理和认知特性的潜在功能影响。大多数结构基因影响的变化发生在表达调控的水平,这反过来又引起了相互作用基因调控网络的更大变化。在这篇综述中,我们总结了有关人类与黑猩猩之间遗传差异的可用信息,以及它们对这些物种的不同分子,解剖,生理和认知特性的潜在功能影响。大多数结构基因影响的变化发生在表达调控的水平,这反过来又引起了相互作用基因调控网络的更大变化。在这篇综述中,我们总结了有关人类与黑猩猩之间遗传差异的可用信息,以及它们对这些物种的不同分子,解剖,生理和认知特性的潜在功能影响。
更新日期:2020-09-10
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