三维基因组学研究进展

Advances in three-dimensional genomics

摘要:

三维基因组学是一门研究基因组三维空间结构与功能的新兴学科，主要研究基因组序列在细胞核内的三维空间构象，及其对DNA复制、DNA重组、基因表达调控等生物过程的生物学效应。自染色质构象捕获技术 (3C)出现后，三维基因组学相关研究领域飞速发展。借助于3C及其衍生技术、Hi-C和ChIA-PET等技术，科学家能对各类物种的三维基因组进行更为深入的研究，从而揭示微生物、植物和动物基因组的空间构象、染色质的相互作用模式、转录调控以及不同生物学性状的形成机制；挖掘与生命活动和疾病相关的关键基因和信号通路；推动农业科学、生命科学和医学等领域的快速发展。文中就三维基因组学研究进展作一综述，主要阐述三维基因组学的概念和研究技术的发展及其在农业科学、生命科学和医学等领域的应用，尤其是肿瘤领域所取得的阶段性研究成果。

Abstract:

Three-dimensional (3D) genomics is an emerging discipline that studies the 3D spatial structure and function of genomes, focusing on the 3D spatial conformation of genome sequences in the nucleus and its biological effects on biological processes such as DNA replication, DNA recombination and gene expression regulation. The invention of chromosome conformation capture (3C) technology speeds up the research on 3D genomics and its related fields. Furthermore, the development of 3C-based technologies, such as the genome-wide chromosome conformation capture (Hi-C) and chromatin interaction analysis using paired-end tag sequencing (ChIA-PET), help scientists get insight into the 3D genomes of various species. Aims of 3D genomics are to reveal the spatial genome organization, chromosomal interaction patterns, mechanisms underlying the transcriptional regulation and formation of biological traits of microorganism, plant, animal. Additionally, the identification of key genes and signaling pathways associated with biological processes and disease via chromosome 3C technology boosts the rapid development of agricultural science, life science and medical science. This paper reviews the research progress of 3D genomics, mainly in the concept of 3D genomics, the development of chromosome 3C technologies and their applications in agricultural science, life science and medical science, specifically in the field of tumor.