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对黑猩猩(Pan troglodytes)特异性 LINE-1 反转录转座子的全面分析。

A comprehensive analysis of chimpanzee (Pan troglodytes)-specific LINE-1 retrotransposons.

机构信息

Department of Nanobiomedical Science, Dankook University, Cheonan 31116, Republic of Korea; BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan 31116, Republic of Korea.

Department of Biological Sciences, Brock University, St. Catharines, Ontario L2S 3A1, Canada.

出版信息

Gene. 2019 Apr 20;693:46-51. doi: 10.1016/j.gene.2019.01.022. Epub 2019 Jan 26.

Abstract

Long interspersed element-1 (LINE-1 or L1) is one of the most abundant retrotransposons in the primate genomes and has contributed to their genome diversity and variations during the primate evolution. Among primate L1 subfamilies, L1Pt subfamilies include Pan troglodytes-specific L1s. L1Pt elements have been successfully expanded in the chimpanzee genome since the divergence of human and chimpanzee lineages. However, only a few full-length L1Pt copies were previously detected in the chimpanzee genome due to incomplete chimpanzee reference genome sequences at the time. In the present study, we aimed to identify chimpanzee-specific L1s using the most recent version of the chimpanzee reference genome (May 2016, panTro5). We identified a total of 3731 chimpanzee-specific L1s. This is much more than previously reported chimpanzee-specific L1 copies. Among these, 223 are full-length (>6 kb), and we annotated their subfamilies and examined their retrotransposition-competency. The result showed that there are two L1Pt subfamilies in the chimpanzee genome, and the nine structurally intact elements belong to L1Pt-1, L1Pt-2, and L1PA2 subfamilies. In addition, we found that the intact full-length L1 group showed significantly higher L1 expression level than the non-intact full-length L1 group using limited RNA-seq data. It is interesting to notice that the number of retrotransposition-competent elements is much less in the chimpanzee genome than that in the human genome. In conclusion, there is increasing evidence to indicate that chimpanzee-specific L1s have changed the chimpanzee genome, causing genomic difference from other primate genomes.

摘要

长散布元件-1(LINE-1 或 L1)是灵长类基因组中最丰富的反转录转座子之一,在灵长类进化过程中为其基因组多样性和变异做出了贡献。在灵长类 L1 亚家族中,L1Pt 亚家族包括黑猩猩特异性 L1。自人类和黑猩猩谱系分化以来,L1Pt 元件已在黑猩猩基因组中成功扩张。然而,由于当时黑猩猩参考基因组序列不完整,以前仅在黑猩猩基因组中检测到少数全长 L1Pt 拷贝。在本研究中,我们旨在使用最新的黑猩猩参考基因组(2016 年 5 月,panTro5)来鉴定黑猩猩特异性 L1。我们总共鉴定了 3731 个黑猩猩特异性 L1。这比以前报道的黑猩猩特异性 L1 拷贝要多得多。在这些 L1 中,有 223 个是全长(>6kb),我们对它们的亚家族进行了注释,并检查了它们的反转录转位能力。结果表明,黑猩猩基因组中有两个 L1Pt 亚家族,九个结构完整的元件属于 L1Pt-1、L1Pt-2 和 L1PA2 亚家族。此外,我们发现使用有限的 RNA-seq 数据,完整的全长 L1 组的 L1 表达水平明显高于不完整的全长 L1 组。有趣的是,具有反转录转位能力的完整元件数量远少于人类基因组。总之,越来越多的证据表明,黑猩猩特异性 L1 改变了黑猩猩基因组,导致其与其他灵长类基因组的基因组差异。

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