果蝇染色体重排作为新基因形成的来源
Chromosomal rearrangements as a source of new gene formation in Drosophila yakuba
摘要：
新基因的起源是进化生物学中最基本的问题之一。我们对新遗传物质出现的方式以及遗传物质如何塑造种群变异的理解仍然不完整。新基因和重复基因是选择作用的新遗传物质的关键来源。为了更好地理解这些新基因序列的起源，我们探索了结构变异可能改变表达模式并形成新转录本的方式。我们提供的证据表明，染色体重排是一种新的遗传变异，有利于在果蝇从头基因的形成来源。我们在14株D.日本料理。当现有基因的5'端与先前未转录的区域结合时，这些新基因继承转录起始信号和开放阅读框。这样的新基因将与新的肽序列一起出现，而不需要从非编码RNA到蛋白质的二级转换。这种新肽形成的机制与从头基因进展的经典理论形成对比，从头基因进展需要非编码中间体，其必须在通过假基因化损失之前获得新的突变。因此，这些突变提供了在单个突变步骤中从头基因创建和蛋白质序列形成的手段，回答了关于新基因形成的长期未决问题。我们进一步鉴定了134个现有基因的基因表达变化，表明这些突变可以改变基因调控。染色体重排的群体变异性是相当大的，在14个自交系中观察到2368个重排。在X染色体上发现的重排比任何常染色体都多，这表明X染色体更容易受到染色体改变的影响。
英文摘要：
The origins of new genes are among the most fundamental questions in evolutionary biology. Our understanding of the ways that new genetic material appears and how that genetic material shapes population variation remains incomplete. De novo genes and duplicate genes are a key source of new genetic material on which selection acts. To better understand the origins of these new gene sequences, we explored the ways that structural variation might alter expression patterns and form novel transcripts. We provide evidence that chromosomal rearrangements are a source of novel genetic variation that facilitates the formation of de novo genes in Drosophila. We identify 52 cases of de novo gene formation created by chromosomal rearrangements in 14 strains of D. yakuba. These new genes inherit transcription start signals and open reading frames when the 5' end of existing genes are combined with previously untranscribed regions. Such new genes would appear with novel peptide sequences, without the necessity for secondary transitions from non-coding RNA to protein. This mechanism of new peptide formations contrasts with canonical theory of de novo gene progression requiring non-coding intermediaries that must acquire new mutations prior to loss via pseudogenization. Hence, these mutations offer a means to de novo gene creation and protein sequence formation in a single mutational step, answering a long standing open question concerning new gene formation. We further identify gene expression changes to 134 existing genes, indicating that these mutations can alter gene regulation. Population variability for chromosomal rearrangements is considerable, with 2368 rearrangements observed across 14 inbred lines. More rearrangements were identified on the X chromosome than any of the autosomes, suggesting the X is more susceptible to chromosome alterations.
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