Baira Eirini, Greshock Joel, Coukos George, Zhang Lin
Center for Research on Early Detection and Cure of Ovarian Cancer, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
RNA Biol. 2008 Jul-Sep;5(3):132-4. doi: 10.4161/rna.5.3.6673. Epub 2008 Jul 25.
Evolutionary conservation has become a powerful tool to identify functionally important genomic sequences/elements in the human genome. There are 481 genomic segments longer than 200 base pairs (bp) that are absolutely conserved (100% identity with no insertions or deletions) between human, mouse and rat genomes. Such segments are known as ultraconserved elements (UCEs). Although our knowledge of UCEs is limited, most recent studies suggest that UCEs play a functional role in vertebrate genomes, such as serving as long-range enhancers of flanking genes, regulating splicing and epigenetic modifications, and functioning as transcriptional coactivator. Most recent studies show that expression of UCEs is consistently altered in tumors, strongly suggesting these elements may also be involved in human disease such as cancer development.
进化保守性已成为识别人类基因组中功能重要的基因组序列/元件的有力工具。在人类、小鼠和大鼠基因组之间，有481个长度超过200个碱基对（bp）的基因组片段是绝对保守的（100%相同，无插入或缺失）。这些片段被称为超保守元件（UCEs）。尽管我们对UCEs的了解有限，但最近的研究表明，UCEs在脊椎动物基因组中发挥功能作用，例如作为侧翼基因的远距离增强子、调节剪接和表观遗传修饰，以及作为转录共激活因子发挥作用。最近的研究表明，UCEs的表达在肿瘤中持续改变，强烈表明这些元件也可能参与人类疾病，如癌症发展。
