3D genomics aims to investigate the spatial structure of chromatin in the nucleus on the basis of genomic sequences, gene structures and relevant regulatory elements. The spatial organization of chromosomes is fundamental for gene expression regulation. Recent advances of high-throughput chromosome conformation capture (Hi-C) technology and its derivatives, has enabled capture of chromatin architecture with high resolution. In this review, we summarize the development and applications of various technologies of 3D genomes in disease research, particularly in the elucidation of pathogenic mechanisms in cancers and other systemic disorders.
三维基因组学在基因组序列、基因结构及其调控元件的基础上对细胞核内的染色质的三维空间结构进行研究。染色体的空间交互作用是基因表达调控的重要因素，随着高通量染色体构象捕获(high-throughput chromosome conformation capture，Hi-C)技术及其衍生技术的出现和快速发展，借助Hi-C技术获取高通量三维基因组学数据，对基因表达调控等生物过程进行研究，已成为揭示细胞深层机制、阐明疾病致病机理的重要手段。本文在介绍三维基因组的发展历程和研究技术的基础上，重点总结了近年来Hi-C技术在多种疾病研究、特别是致病机理阐释方面的应用和成果，为深入理解三维基因组学在构建全局基因调控图谱、挖掘疾病致病机理方面的应用提供参考和借鉴。.
Keywords: 3D genomics; Hi-C; chromatin structure; regulation of gene expression.