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On the importance of evolutionary constraint for regulatory sequence identification
Briefings in Functional Genomics ( IF 4 ) Pub Date : 2021-02-23 , DOI: 10.1093/bfgp/elab015
François Giudicelli 1 , Hugues Roest Crollius 1
Affiliation  

Regulation of gene expression relies on the activity of specialized genomic elements, enhancers or silencers, distributed over sometimes large distance from their target gene promoters. A significant part of vertebrate genomes consists in such regulatory elements, but their identification and that of their target genes remains challenging, due to the lack of clear signature at the nucleotide level. For many years the main hallmark used for identifying functional elements has been their sequence conservation between genomes of distant species, indicative of purifying selection. More recently, genome-wide biochemical assays have opened new avenues for detecting regulatory regions, shifting attention away from evolutionary constraints. Here, we review the respective contributions of comparative genomics and biochemical assays for the definition of regulatory elements and their targets and advocate that both sequence conservation and preserved synteny, taken as signature of functional constraint, remain essential tools in this task.

中文翻译:

论进化约束对调控序列识别的重要性

基因表达的调节依赖于特定基因组元件、增强子或沉默子的活性,它们有时分布在距其靶基因启动子很远的地方。脊椎动物基因组的重要组成部分在于此类调控元件,但由于在核苷酸水平上缺乏明确的特征,它们及其靶基因的鉴定仍然具有挑战性。多年来,用于识别功能元件的主要标志一直是它们在远距离物种基因组之间的序列保守性,这表明了纯化选择。最近,全基因组生化分析为检测调控区域开辟了新途径,将注意力从进化限制转移开来。这里,
更新日期:2021-02-23
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