Mobile elements (MEs) collectively contribute to at least 50% of the human genome. Due to their past incremental accumulation and ongoing DNA transposition, MEs serve as a significant source for both inter- and intra-species genetic and phenotypic diversity during primate and human evolution. By making use of the most recent genome sequences for human and many other closely related primates and robust multi-way comparative genomic approach, we identified a total of 14,870 human-specific MEs (HS-MEs) with more than 8,000 being newly identified. Collectively, these HS-MEs contribute to a total of 14.2 Mbp net genome sequence increase. Several new observations were made based on these HS-MEs, including the finding of Y chromosome as a strikingly hot target for HS-MEs and a strong mutual preference for SINE-R/VNTR/Alu (SVAs). Furthermore, ∼8,000 of these HS-MEs were found to locate in the vicinity of ∼4,900 genes, and collectively they contribute to ∼84 kb sequences in the human reference transcriptome in association with over 300 genes, including protein-coding sequences for 40 genes. In conclusion, our results demonstrate that MEs made a significant contribution to the evolution of human genome by participating in gene function in a human-specific fashion.

中文翻译：

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流动元素通过15,000个人特异性插入和14 Mbp序列增加，为人类基因组的独特性做出了贡献。

移动元素（ME）共同构成了人类基因组的至少50％。由于它们过去的累积积累和正在进行的DNA转座，ME在灵长类动物和人类进化过程中成为种间和种内遗传和表型多样性的重要来源。通过利用人类和许多其他紧密相关的灵长类动物的最新基因组序列和强大的多向比较基因组方法，我们鉴定出总共14,870种人特异性ME（HS-ME），其中有8,000多种是新近鉴定的。这些HS-ME共同促进了总的14.2 Mbp净基因组序列增加。基于这些HS-MEs，进行了一些新的观察，包括发现Y染色体成为HS-MEs的极热靶标，以及对SINE-R / VNTR / Alu（SVA）的强烈相互偏爱。此外，〜8 发现其中的000个HS-ME位于约4,900个基因附近，它们共同与300多个基因（包括40个基因的蛋白质编码序列）相关，共同构成了人类参考转录组中的〜84 kb序列。总之，我们的结果表明，MEs通过以人类特异性方式参与基因功能，为人类基因组的进化做出了重大贡献。