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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Comparison of multiple vertebrate genomes reveals the birth and evolution of human exons
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Comparison of multiple vertebrate genomes reveals the birth and evolution of human exons

机译：多个脊椎动物基因组的比较揭示了人类外显子的诞生和进化

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摘要

Orthologous gene structures in eight vertebrate species were compared on a genomic scale to detect the birth and maturation of new internal exons during the course of evolution. We found that 40% of new human exons are alternatively spliced, and most of these are cassette exons (exons that are either included or skipped in their entirety) with low inclusion rates. This proportion decreases steadily as older and older exons are examined, even as splicing efficiency increases. Remarkably, the great majority of new cassette exons are composed of highly repeated sequences, especially Alu. Many new cassette exons are 5' untranslated exons; the proportion that code for protein increases steadily with age. New protein-coding exons evolve at a high rate, as evidenced by the initially high substitution rates (K_s and K_a), as well as the SNP density compared with older exons. This dynamic picture suggests that de novo recruitment rather than shuffling is the major route by which exons are added to genes, and that species-specific repeats could play a significant role in recent evolution.
机译：在基因组规模上比较了八个脊椎动物物种的直系同源基因结构，以检测进化过程中新内部外显子的诞生和成熟。我们发现40％的新人类外显子是可变剪接的，其中大多数是盒式外显子（包含或完整跳过的外显子），包涵率低。随着检查年龄越来越大的外显子，这个比例稳步下降，即使剪接效率提高了。值得注意的是，绝大多数新的盒式外显子都是由高度重复的序列组成，尤其是Alu。许多新的盒式外显子是5'非翻译外显子。随着年龄的增长，编码蛋白质的比例逐渐增加。新的蛋白质编码外显子以较高的速率进化，如最初的高取代率（K_s和K_a）以及与老外显子相比的SNP密度所证明。这张动态图片表明，从头募集而不是改组是将外显子添加到基因的主要途径，并且物种特异性重复序列可能在近期进化中起重要作用。

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