基于Hi-C技术哺乳动物三维基因组研究进展
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摘要
基因组DNA在细胞核中并不是呈线性的一字排列,而是以三维结构高度折叠并浓缩成染色质的方式储存于核内,具有特定的高级空间结构和构象。高通量染色体构象捕获(high-througnput chromosome conformationcapture, Hi-C)技术于2009年首次被提出,目前已得到大规模运用,使得人们对于三维基因组学有了更深刻的认识。研究表明,哺乳动物基因组三维层级结构单元由大到小依次为染色体疆域(chromosome territory, CT)、染色质区室(chromatin compartment A/B)、拓扑关联结构域(topological associated domain, TAD)和染色质环(chromatin loop),这些层级结构单元在基因转录和表达调控过程中发挥着重要作用。本文基于Hi-C技术从染色质的三维层级结构划分、构象单元作用以及三维基因组在发育、疾病等方面的应用进行阐述,旨在为更深入地了解哺乳动物三维基因组学研究提供参考。
Mammalian genomic DNA in the cell nucleus doesn't exist in linear form but is highly folded and condensed into chromatin with a three-dimensional(3 D) structure possessing a specific spatial structure and conformation. Hi-C, the high-throughput chromosome conformation capture technology, was first published in 2009, and it provides an in-depth view of 3 D genomics. According to the size of DNA unit, the 3 D hierarchical units of mammalian genome can be categorized sequentially as chromosome territory(CT), chromatin compartment A/B, topological associated domain(TAD), and chromatin loop. These hierarchical structural units play vital roles in gene transcription and regulation. In this review, we summarize the 3 D hierarchical division of chromosomes, the effects of hierarchical units and the applications of Hi-C technology in development and disease. This review is intended to provide insights for the further study of 3 D genomics in mammals.
Mammalian genomic DNA in the cell nucleus doesn't exist in linear form but is highly folded and condensed into chromatin with a three-dimensional(3 D) structure possessing a specific spatial structure and conformation. Hi-C, the high-throughput chromosome conformation capture technology, was first published in 2009, and it provides an in-depth view of 3 D genomics. According to the size of DNA unit, the 3 D hierarchical units of mammalian genome can be categorized sequentially as chromosome territory(CT), chromatin compartment A/B, topological associated domain(TAD), and chromatin loop. These hierarchical structural units play vital roles in gene transcription and regulation. In this review, we summarize the 3 D hierarchical division of chromosomes, the effects of hierarchical units and the applications of Hi-C technology in development and disease. This review is intended to provide insights for the further study of 3 D genomics in mammals.
引文
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