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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >L1 Recombination-associated Deletions Generate Human Genomic Variation
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L1 Recombination-associated Deletions Generate Human Genomic Variation

机译：L1重组相关的缺失产生人类基因组变异。

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摘要

Mobile elements have created structural variation in the human genome through their de novo insertions and post-insertional genomic rearrangements. L1 elements are a type of long interspersed element (LINE) that is dispersed at high copy numbers within most mammalian genomes. To determine the magnitude of L1 recombination-associated deletions (L1RADs), we computationally extracted L1RAD candidates by comparing the human and chimpanzee genomes and verified each of the L1RAD events by using wet-bench analyses. Through these analyses, we identified 73 human-specific L1RAD events that occurred subsequent to the divergence of the human and chimpanzee lineages. Despite their low frequency, the L1RAD events deleted 450 kb of the human genome. One L1RAD event generated a large deletion of 64 kb. Multiple alignments of prerecombination and postrecombination L1 elements suggested that two different deletion mechanisms generated the URADs: nonallelic homologous recombination (55 events) and nonhomologous end joining between two L1s (18 events). In addition, the position of URADs throughout the genome does not correlate with local chromosomal recombination rates. This process may be implicated in the partial regulation of L1 copy numbers by the finding that ≈60% of the DNA sequences deleted by the URADs consist of L1 sequences that were either directly involved in the recombination events or located in the intervening sequence between recombining L1s. Overall, there is increasing evidence that URADs have played an important role in creating structural variation.
机译：流动元件通过从头插入和插入后基因组重排在人类基因组中产生了结构变异。 L1元件是一种长散布元件（LINE），以高拷贝数分散在大多数哺乳动物基因组中。为了确定L1重组相关缺失（L1RADs）的大小，我们通过比较人类和黑猩猩的基因组，以计算方式提取了L1RAD候选基因，并通过湿台分析验证了每个L1RAD事件。通过这些分析，我们确定了人类和黑猩猩谱系分歧后发生的73个人类特异性L1RAD事件。尽管它们的频率较低，但L1RAD事件删除了450 kb的人类基因组。一个L1RAD事件产生了64 kb的大缺失。重组前和重组后L1元件的多重比对表明，两种不同的缺失机制产生了URAD：非等位基因同源重组（55个事件）和两个L1之间的非同源末端连接（18个事件）。另外，整个基因组中URAD的位置与局部染色体重组率不相关。通过发现以下发现可能涉及L1拷贝数的部分调节：发现URAD缺失的≈60％的DNA序列由直接参与重组事件或位于重组L1之间的插入序列中的L1序列组成。总体而言，越来越多的证据表明URAD在创建结构变异中发挥了重要作用。

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