转座因子在人和小鼠体内的外显特征
Characteristics of transposable element exonization within human and mouse
摘要：
在哺乳动物基因中插入转座元件被认为是哺乳动物进化和物种形成的重要贡献者。插入转座元件到内含子中可以导致它们作为选择性剪接盒外显子被激活，这一事件称为外显子化。阐明了人类和小鼠蛋白质编码基因内的转座元件的固定以及随后的外显子化的进化限制对于理解外显子化过程如何影响转录组和蛋白质组的复杂性是重要的。在这里，我们表明，转座元件的外显偏向于人类和小鼠基因的编码序列的开始。单核苷酸多态性（SNPs）的分析表明，转座元件的外显化可以是种群特异性的，这意味着外显化可能会增强分歧，导致物种形成。SNP密度分析揭示了Alu与其他转座元件之间的差异。最后，我们确定了灵长类动物特异性Alu元件的情况下，依赖于RNA编辑的外显子。这些结果揭示了TE固定和人类和小鼠基因内的外显子化过程。
英文摘要：
Insertion of transposed elements within mammalian genes is thought to be an important contributor to mammalian evolution and speciation. Insertion of transposed elements into introns can lead to their activation as alternatively spliced cassette exons, an event called exonization. Elucidation of the evolutionary constraints that have shaped fixation of transposed elements within human and mouse protein coding genes and subsequent exonization is important for understanding of how the exonization process has affected transcriptome and proteome complexities. Here we show that exonization of transposed elements is biased towards the beginning of the coding sequence in both human and mouse genes. Analysis of single nucleotide polymorphisms (SNPs) revealed that exonization of transposed elements can be population-specific, implying that exonizations may enhance divergence and lead to speciation. SNP density analysis revealed differences between Alu and other transposed elements. Finally, we identified cases of primate-specific Alu elements that depend on RNA editing for their exonization. These results shed light on TE fixation and the exonization process within human and mouse genes.
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