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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Fitness cost of LINE-1 (L1) activity in humans
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Fitness cost of LINE-1 (L1) activity in humans

机译：LINE-1（L1）活动对人体的健身成本

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摘要

The self-replicating LINE-1 (L1) retrotransposon family is the dominant retrotransposon family in mammals and has generated 30-40% of their genomes. Active L1 families are present in modern mammals but the important question of whether these currently active families affect the genetic fitness of their hosts has not been addressed. This issue is of particular relevance to humans as Homo sapiens contains the active L1 Tal1 subfamily of the human specific Ta (L1Pa1) L1 family. Although DNA insertions generated by the Tall subfamily can cause genetic defects in current humans, these are relatively rare, and it is not known whether Ta1-generated inserts or any other property of Ta1 elements have been sufficiently deleterious to reduce the fitness of humans. Here we show that full-length (FL) Ta1 elements, but not the truncated Ta1 elements or SINE (Alu) insertions generated by Ta1 activity, were subject to negative selection. Thus, one or more properties unique to FL L1 elements constitute a genetic burden for modern humans. We also found that the FL Ta1 elements became more deleterious as the expansion of Ta1 has proceeded. Because this expansion is ongoing, the Ta1 subfamily almost certainly continues to decrease the fitness of modern humans.
机译：自复制的LINE-1（L1）逆转座子家族是哺乳动物中最主要的逆转座子家族，已经产生了其基因组的30-40％。活跃的L1家族存在于现代哺乳动物中，但尚未解决这些当前活跃的家族是否影响其宿主遗传适应性的重要问题。这个问题与人类特别相关，因为智人包含人类特定Ta（L1Pa1）L1家族的活跃L1 Tal1子家族。尽管塔尔亚家族产生的DNA插入片段可在当前人类中引起遗传缺陷，但这些缺陷相对较少，尚不知道Ta1产生的插入片段或Ta1元素的任何其他特性是否足以降低人体健康。在这里，我们显示全长（FL）Ta1元素（而不是由Ta1活性生成的截断的Ta1元素或SINE（Alu）插入）受到否定选择。因此，FL L1元素独有的一种或多种特性构成了现代人类的遗传负担。我们还发现，随着Ta1的扩展，FL Ta1元素变得更加有害。因为这种扩展正在进行中，所以Ta1亚科几乎肯定会继续降低现代人的适应性。

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