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Distinct retroelement classes define evolutionary breakpoints demarcating sites of evolutionary novelty

机译:不同的返修类定义了定义新奇进化点的进化断点

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摘要

BackgroundLarge-scale genome rearrangements brought about by chromosome breaks underlie numerous inherited diseases, initiate or promote many cancers and are also associated with karyotype diversification during species evolution. Recent research has shown that these breakpoints are nonrandomly distributed throughout the mammalian genome and many, termed "evolutionary breakpoints" (EB), are specific genomic locations that are "reused" during karyotypic evolution. When the phylogenetic trajectory of orthologous chromosome segments is considered, many of these EB are coincident with ancient centromere activity as well as new centromere formation. While EB have been characterized as repeat-rich regions, it has not been determined whether specific sequences have been retained during evolution that would indicate previous centromere activity or a propensity for new centromere formation. Likewise, the conservation of specific sequence motifs or classes at EBs among divergent mammalian taxa has not been determined.
机译:背景技术染色体断裂引起的大规模基因组重排是许多遗传疾病的基础,引发或促进了许多癌症,并且还与物种进化过程中的核型多样化有关。最近的研究表明,这些断点非随机地分布在整个哺乳动物基因组中,许多称为“进化断点”(EB)的基因组是在核型进化过程中“重用”的特定基因组位置。当考虑直系同源染色体片段的系统发生轨迹时,这些EB中的许多都与古代着丝粒活动以及新着丝粒形成同时发生。虽然EB的特征是富含重复序列的区域,但尚不确定进化过程中是否保留了特定序列,这些序列将表明先前的着丝粒活性或新着丝粒形成的倾向。同样,尚未确定在不同的哺乳动物类群中EBs上特定序列基序或类别的保守性。

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