《生命科学》 2019, 31(1): 1-8

三维基因组测序技术发展

杨琬婷1，杨　磊2，王世强2*

(1 内蒙古大学生命科学学院，呼和浩特 010000；2 北京大学生命科学学院，膜生物学国家重点实验室，北京 100871)

摘　要：摘　要：近20 年来，研究者们通过大规模DNA 测序，在基因组、转录组和表观基因组方面获得了大量的信息，这些信息为人类基因组中的功能元件和相互作用机制等研究提供了许多详细的视图。但明确2 m 长的DNA 如何组装在10 μm 左右的细胞核中仍是一个挑战性的工作。人们着眼于多角度探究染色质在狭窄空间里的精准调控表达，因此，三维基因组研究也越来越受到关注，与此相关的技术也在不断发展中。主要介绍以核邻位连接为基础的染色质构象捕获技术(3C) 及其衍生技术，如4C、5C、Hi-C 及其衍生技术、ChIA-PET、原位Hi-C，以及DLO Hi-C 等，并简单介绍应用这些技术已取得的重要成果以及未来的发展方向。

Development of three-dimensional genome sequencing technology

YANG Wan-Ting1， YANG Lei2， WANG Shi-Qiang2*

(1 School of Life Sciences， Inner Mongolia University， Huhhot 010000， China;
    2 State Key Laboratory of Membrane Biology， College of Life Sciences， Peking University， Beijing 100871， China)

Abstract: Abstract: In the past two decades， researchers have acquired a wealth of information on genomes， transcriptomes，and epigenomes through large-scale DNA sequencing. This information provides many details for the study of functional elements and interaction mechanisms in the human genome. But it is still a challenging task to know how 2 meters of DNA can be assembled in nucleus of about 10 microns. People from multiple angles explored the precise regulation and expression of chromatin in narrow spaces. Therefore， three-dimensional genome research is getting more and more attention， and related technologies are also constantly developing. This review mainly introduced the chromatin conformation capture technology (3C) based on nuclear proximity ligation and 3C derived methods， such as 4C， 5C， Hi-C and Hi-C-derived methods， ChIA-PET， in situ Hi-C and DLO Hi-C， etc. In addition， a brief introduction to the important results of the application of these technologies and the future direction of development was given.