Abstract
The chromosomes in eukaryotic cells are highly folded and organized to form dynamic three-dimensional (3D) structures. In recent years, many technologies including chromosome conformation capture (3C) and 3C-based technologies (Hi-C, ChIA-PET) have been developed to investigate the 3D structure of chromosomes. These technologies are enabling research on how gene regulatory events are affected by the 3D genome structure, which is increasingly implicated in the regulation of gene expression and cellular functions. Importantly, many diseases are associated with genetic variations, most of which are located in non-coding regions. However, it is difficult to determine the mechanisms by which these variations lead to diseases. With 3D genome technologies, we can now better determine the consequences of non-coding genome alterations via their impact on chromatin interactions and structures in cancer and other diseases. In this review, we introduce the various 3D genome technologies, with a focus on their application to cancer and disease research, as well as future developments to extend their utility.
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Acknowledgements
This work was supported by funding from Peking-Tsinghua Center for Life Sciences, School of Life Sciences and Center for Statistical Science of Peking University, National Natural Science Foundation of China Key Research Grant 71532001, and Chinese National Key Projects of Research and Development (2016YFA0100103). We are grateful to Ming Du for his assistance with figures.
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Ruifeng Li designed and supervised this review. Yingping Hou was responsible for the section on 3D genome technology and novel findings. Yuting Liu and Pengze Wu was responsible for the section on 3D genome reorganization in cancer and clinical applications. Ruifeng Li was responsible for the section on 3D genome reorganization in other diseases. Jingbo Gan was responsible for the section on single cell Hi-C and future directions. C.L. participated in writing.
