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三维基因组学及其在精准医学中的应用。

3D genomics and its applications in precision medicine.

机构信息

State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, College of Animal Science and Technology, Guangxi University, Nanning, 530004, Guangxi Province, China.

Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Life Science and Engineering, Foshan University, Foshan, 528225, China.

出版信息

Cell Mol Biol Lett. 2023 Mar 6;28(1):19. doi: 10.1186/s11658-023-00428-x.

Abstract

Three-dimensional (3D) genomics is an emerging discipline that studies the three-dimensional structure of chromatin and the three-dimensional and functions of genomes. It mainly studies the three-dimensional conformation and functional regulation of intranuclear genomes, such as DNA replication, DNA recombination, genome folding, gene expression regulation, transcription factor regulation mechanism, and the maintenance of three-dimensional conformation of genomes. Self-chromosomal conformation capture (3C) technology has been developed, and 3D genomics and related fields have developed rapidly. In addition, chromatin interaction analysis techniques developed by 3C technologies, such as paired-end tag sequencing (ChIA-PET) and whole-genome chromosome conformation capture (Hi-C), enable scientists to further study the relationship between chromatin conformation and gene regulation in different species. Thus, the spatial conformation of plant, animal, and microbial genomes, transcriptional regulation mechanisms, interaction patterns of chromosomes, and the formation mechanism of spatiotemporal specificity of genomes are revealed. With the help of new experimental technologies, the identification of key genes and signal pathways related to life activities and diseases is sustaining the rapid development of life science, agriculture, and medicine. In this paper, the concept and development of 3D genomics and its application in agricultural science, life science, and medicine are introduced, which provides a theoretical basis for the study of biological life processes.

摘要

三维基因组学是一门新兴的学科,研究染色质的三维结构和基因组的三维结构和功能。它主要研究核内基因组的三维构象和功能调控,如 DNA 复制、DNA 重组、基因组折叠、基因表达调控、转录因子调控机制以及基因组三维构象的维持。已经开发了三维基因组学和相关领域的自染色体构象捕获(3C)技术,并得到了快速发展。此外,3C 技术开发的染色质相互作用分析技术,如配对末端标签测序(ChIA-PET)和全基因组染色体构象捕获(Hi-C),使科学家能够进一步研究不同物种中染色质构象与基因调控之间的关系。因此,揭示了植物、动物和微生物基因组的空间构象、转录调控机制、染色体相互作用模式以及基因组时空特异性形成的机制。借助新的实验技术,与生命活动和疾病相关的关键基因和信号通路的鉴定正在持续推动生命科学、农业和医学的快速发展。本文介绍了三维基因组学的概念和发展及其在农业科学、生命科学和医学中的应用,为研究生物生命过程提供了理论基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90a5/9987123/a6998c1e2464/11658_2023_428_Fig1_HTML.jpg

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