| A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression |
| Zhao, H; Liu, LL; Sun, J; Jin, L; Xie, HB; Li, JB; Xu, H; Wu, DD; Zhuang, XL; Peng, MS; Guo, YJ; Qian, WZ; Otecko, NO; Sun, WJ; Qu, LH; He, J; Chen, ZL; Liu, R; Chen, CS; Zhang, YP
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| 2023
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| 发表期刊 | SCIENCE CHINA-LIFE SCIENCES
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| ISSN | 1674-7305
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| 摘要 | Human-specific insertions play important roles in human phenotypes and diseases. Here we reported a 446-bp insertion (Insert-446) in intron 11 of the TBC1D8B gene, located on chromosome X, and traced its origin to a portion of intron 6 of the EBF1 gene on chromosome 5. Interestingly, Insert-446 was present in the human Neanderthal and Denisovans genomes, and was fixed in humans after human-chimpanzee divergence. We have demonstrated that Insert-446 acts as an enhancer through binding transcript factors that promotes a higher expression of human TBC1D8B gene as compared with orthologs in macaques. In addition, over-expression TBC1D8B promoted cell proliferation and migration through a dual finger catalytic mechanism (Arg538 and Gln573) in the TBC domain in vitro and knockdown of TBC1D8B attenuated tumorigenesis in vivo. Knockout of Insert-446 prevented cell proliferation and migration in cancer and normal cells. Our results reveal that the human-specific Insert-446 promotes cell proliferation and migration by upregulating the expression of TBC1D8B gene. These findings provide a significant insight into the effects of human-specific insertions on evolution. |
| 收录类别 | SCI
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| 语种 | 英语
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| 文献类型 | 期刊论文
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| 条目标识符 | http://ir.kiz.ac.cn/handle/152453/14006
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| 专题 | 科研部门_分子进化与基因组多样性（张亚平）
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推荐引用方式
GB/T 7714 |
Zhao, H,Liu, LL,Sun, J,et al. A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression[J]. SCIENCE CHINA-LIFE SCIENCES,2023.
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| APA |
Zhao, H.,Liu, LL.,Sun, J.,Jin, L.,Xie, HB.,...&Zhang, YP.(2023).A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression.SCIENCE CHINA-LIFE SCIENCES.
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| MLA |
Zhao, H,et al."A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression".SCIENCE CHINA-LIFE SCIENCES (2023).
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