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首页> 外文期刊>Cell Reports >Ultraconserved Elements Occupy Specific Arenas of Three-Dimensional Mammalian Genome Organization
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Ultraconserved Elements Occupy Specific Arenas of Three-Dimensional Mammalian Genome Organization

机译:超保守元素占据了三维哺乳动物基因组组织的特定区域。

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Summary This study explores the relationship between three-dimensional genome organization and ultraconserved elements (UCEs), an enigmatic set of DNA elements that are perfectly conserved between the reference genomes of distantly related species. Examining both human and mouse genomes, we interrogate the relationship of UCEs to three features of chromosome organization derived from Hi-C studies. We find that UCEs are enriched within contact domains and, further, that the subset of UCEs within domains shared across diverse cell types are linked to kidney-related and neuronal processes. In boundaries, UCEs are generally depleted, with those that do overlap boundaries being overrepresented in exonic UCEs. Regarding loop anchors, UCEs are neither overrepresented nor underrepresented, but those present in loop anchors are enriched for splice sites. Finally, as the relationships between UCEs and human Hi-C features are conserved in mouse, our findings suggest that UCEs contribute to interspecies conservation of genome organization and, thus, genome stability.
机译:结束语这项研究探索了三维基因组组织与超保守元素(UCE)之间的关系,超保守元素是一组神秘的DNA元素,在远缘物种的参考基因组之间是完全保守的。检查人类和小鼠的基因组,我们询问UCE与Hi-C研究衍生的染色体组织的三个特征之间的关系。我们发现UCEs丰富了接触域内,而且,跨不同细胞类型共享的域内UCE的子集与肾脏相关和神经元过程相关。在边界中,UCE通常被耗尽,而那些与边界重叠的UCE在外显子UCE中被过度代表。关于环形锚,UCE既不代表过多,也不代表不足,但存在于环形锚中的UCE富集了剪接位点。最后,由于UCE与人类Hi-C特征之间的关系在小鼠中得以保留,因此我们的发现表明UCE有助于种间保护基因组组织,从而促进基因组稳定性。

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