Chromosomal inversions between human and chimpanzee lineages caused by retrotransposons.
Chromosomal inversions between human and chimpanzee lineages caused by retrotransposons.
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DOI：
10.1371/journal.pone.0004047
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发表时间：
2008
期刊：
影响因子：
3.7
通讯作者：
Batzer MA
中科院分区：
文献类型：
--
作者：
Lee J;Han K;Meyer TJ;Kim HS;Batzer MA
长散布元件-1（LINE-1或L1）和Alu元件是最丰富的移动的元件，分别占人类基因组的21%和11%。由于人类和黑猩猩谱系的分歧，这些元件通过增加或减少基因组的大小而强烈地产生染色体重排，导致人类和黑猩猩之间的基因组差异。在这里，我们报告了一个外来的机制，反转录转座子重组介导的倒位（RRMI），通常不会改变基因组材料的存在量。通过比较人类和黑猩猩的基因组草图序列，我们确定了252个倒位，其各自的倒位连接可以清楚地表征。我们的研究结果表明，L1和Alu元素通过形成二级结构或提供双链断裂的脆性位点引起染色体倒位。对倒位断点的详细分析表明，L1和Alu元件至少占人类和黑猩猩谱系之间252个倒位位点的44%，其中包括49个RRMI位点。其中，三个RRMI位点反转已知基因的外显子区域，这暗示了这种机制在人类和黑猩猩谱系之间产生基因组和表型差异。本研究首次全面分析了人类和黑猩猩谱系之间的移动的元件碱基倒位断点，并突出了它们在灵长类基因组进化中的作用。
The long interspersed element-1 (LINE-1 or L1) and Alu elements are the most abundant mobile elements comprising 21% and 11% of the human genome, respectively. Since the divergence of human and chimpanzee lineages, these elements have vigorously created chromosomal rearrangements causing genomic difference between humans and chimpanzees by either increasing or decreasing the size of genome. Here, we report an exotic mechanism, retrotransposon recombination-mediated inversion (RRMI), that usually does not alter the amount of genomic material present. Through the comparison of the human and chimpanzee draft genome sequences, we identified 252 inversions whose respective inversion junctions can clearly be characterized. Our results suggest that L1 and Alu elements cause chromosomal inversions by either forming a secondary structure or providing a fragile site for double-strand breaks. The detailed analysis of the inversion breakpoints showed that L1 and Alu elements are responsible for at least 44% of the 252 inversion loci between human and chimpanzee lineages, including 49 RRMI loci. Among them, three RRMI loci inverted exonic regions in known genes, which implicates this mechanism in generating the genomic and phenotypic differences between human and chimpanzee lineages. This study is the first comprehensive analysis of mobile element bases inversion breakpoints between human and chimpanzee lineages, and highlights their role in primate genome evolution.
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