遗传 ›› 2019, Vol. 41 ›› Issue (3): 215-233.doi: 10.16288/j.yczz.18-317

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基于Hi-C技术哺乳动物三维基因组研究进展

宁椿游,何梦楠,唐茜子,朱庆,李明洲,李地艳()   

  1. 四川农业大学动物科技学院,动物遗传育种研究所,成都 611130
  • 收稿日期:2018-11-21 修回日期:2019-01-23 出版日期:2019-02-28 发布日期:2019-02-28
  • 通讯作者: 李地艳 E-mail:diyanli@sicau.edu.cn
  • 作者简介:宁椿游,博士研究生,研究方向：动物遗传育种与繁殖。E-mail: ningchunyou@hotmail.com
  • 基金资助:
    国家重点研发计划项目(2018YFD0500403);国家自然科学基金项目资助(31772576)

Advances in mammalian three-dimensional genome by using Hi-C technology approach

Chunyou Ning,Mengnan He,Qianzi Tang,Qing Zhu,Mingzhou Li,Diyan Li()   

  1. Institute of Animal Genetics and Breeding, College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China
  • Received:2018-11-21 Revised:2019-01-23 Online:2019-02-28 Published:2019-02-28
  • Contact: Li Diyan E-mail:diyanli@sicau.edu.cn
  • Supported by:
    Supported by the National Key R&D Program of China(2018YFD0500403);the National Natural Science Foundation of China(31772576)

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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 conformation capture, 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。

关键词: 三维基因组学, 染色质空间构象, Hi-C技术, 基因表达调控

Abstract:

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 (3D) 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 3D genomics. According to the size of DNA unit, the 3D 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 3D 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 3D genomics in mammals.

Key words: three dimensional (3D) genomics, chromatin spatial organization, Hi-C technology, gene transcriptional regulation