Avdeyev Pavel, Jiang Shuai, Alekseyev Max A
Department of Mathematics and the Computational Biology Institute, George Washington University, Washington, DC, United States.
Department of Computer Science and Engineering, University of South Carolina, Columbia, SC, United States.
Front Genet. 2017 Dec 12;8:212. doi: 10.3389/fgene.2017.00212. eCollection 2017.
Genome rearrangements are large-scale evolutionary events that shuffle genomic architectures. The minimal number of such events between two genomes is often used in phylogenomic studies to measure the evolutionary distance between the genomes. Double-Cut-and-Join (DCJ) operations represent a convenient model of most common genome rearrangements (reversals, translocations, fissions, and fusions), while other genome rearrangements, such as transpositions, can be modeled by pairs of DCJs. Since the DCJ model does not directly account for transpositions, their impact on DCJ scenarios is unclear. In the present work, we study implicit appearance of transpositions (as pairs of DCJs) in DCJ scenarios. We consider shortest DCJ scenarios satisfying the maximum parsimony assumption, as well as more general DCJ scenarios based on some realistic but less restrictive assumptions. In both cases, we derive a uniform lower bound for the rate of implicit transpositions, which depends only on the genomes but not a particular DCJ scenario between them. Our results imply that implicit appearance of transpositions in DCJ scenarios may be unavoidable or even abundant for some pairs of genomes. We estimate that for mammalian genomes implicit transpositions constitute at least 6% of genome rearrangements.
基因组重排是大规模的进化事件,会打乱基因组结构。在系统发育基因组学研究中,常使用两个基因组之间此类事件的最小数量来衡量基因组之间的进化距离。双切割与连接(DCJ)操作代表了最常见的基因组重排(反转、易位、裂变和融合)的一种便捷模型,而其他基因组重排,如转座,可以用成对的DCJ来建模。由于DCJ模型没有直接考虑转座,它们对DCJ情景的影响尚不清楚。在本研究中,我们研究了DCJ情景中转座(作为成对的DCJ)的隐性出现。我们考虑满足最大简约假设的最短DCJ情景,以及基于一些现实但限制较少的假设的更一般的DCJ情景。在这两种情况下,我们都推导出了隐性转座率的统一下限,该下限仅取决于基因组,而不取决于它们之间的特定DCJ情景。我们的结果表明,对于某些基因组对,DCJ情景中转座的隐性出现可能是不可避免的,甚至可能很丰富。我们估计,对于哺乳动物基因组,隐性转座至少占基因组重排的6%。