Buckley Reuben M, Kortschak R Daniel, Raison Joy M, Adelson David L
Department of Genetics and Evolution, The University of Adelaide, South Australia, Australia.
Genome Biol Evol. 2017 Sep 1;9(9):2336-2353. doi: 10.1093/gbe/evx179.
The factors guiding retrotransposon insertion site preference are not well understood. Different types of retrotransposons share common replication machinery and yet occupy distinct genomic domains. Autonomous long interspersed elements accumulate in gene-poor domains and their nonautonomous short interspersed elements accumulate in gene-rich domains. To determine genomic factors that contribute to this discrepancy we analyzed the distribution of retrotransposons within the framework of chromosomal domains and regulatory elements. Using comparative genomics, we identified large-scale conserved patterns of retrotransposon accumulation across several mammalian genomes. Importantly, retrotransposons that were active after our sample-species diverged accumulated in orthologous regions. This suggested a similar evolutionary interaction between retrotransposon activity and conserved genome architecture across our species. In addition, we found that retrotransposons accumulated at regulatory element boundaries in open chromatin, where accumulation of particular retrotransposon types depended on insertion size and local regulatory element density. From our results, we propose a model where density and distribution of genes and regulatory elements canalize retrotransposon accumulation. Through conservation of synteny, gene regulation and nuclear organization, mammalian genomes with dissimilar retrotransposons follow similar evolutionary trajectories.
指导反转录转座子插入位点偏好的因素尚未得到充分理解。不同类型的反转录转座子共享共同的复制机制,但却占据不同的基因组区域。自主长散布元件在基因贫乏区域积累,而非自主短散布元件在基因丰富区域积累。为了确定导致这种差异的基因组因素,我们在染色体区域和调控元件的框架内分析了反转录转座子的分布。利用比较基因组学,我们在几个哺乳动物基因组中鉴定出了反转录转座子积累的大规模保守模式。重要的是,在我们的样本物种分化后活跃的反转录转座子在直系同源区域积累。这表明在我们的物种中,反转录转座子活性与保守的基因组结构之间存在类似的进化相互作用。此外,我们发现反转录转座子在开放染色质中的调控元件边界处积累,特定反转录转座子类型的积累取决于插入大小和局部调控元件密度。根据我们的结果,我们提出了一个模型,其中基因和调控元件的密度和分布引导反转录转座子的积累。通过保守的同线性、基因调控和核组织,具有不同反转录转座子的哺乳动物基因组遵循相似的进化轨迹。