Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Korea.
These authors contributed equally to this work.
Mol Cells. 2019 Jul 31;42(7):512-522. doi: 10.14348/molcells.2019.0137.
Chromosomes located in the nucleus form discrete units of genetic material composed of DNA and protein complexes. The genetic information is encoded in linear DNA sequences, but its interpretation requires an understanding of threedimensional (3D) structure of the chromosome, in which distant DNA sequences can be juxtaposed by highly condensed chromatin packing in the space of nucleus to precisely control gene expression. Recent technological innovations in exploring higher-order chromatin structure have uncovered organizational principles of the 3D genome and its various biological implications. Very recently, it has been reported that large-scale genomic variations may disrupt higher-order chromatin organization and as a consequence, greatly contribute to disease-specific gene regulation for a range of human diseases. Here, we review recent developments in studying the effect of structural variation in gene regulation, and the detection and the interpretation of structural variations in the context of 3D chromatin structure.
位于细胞核中的染色体形成由 DNA 和蛋白质复合物组成的遗传物质的离散单元。遗传信息编码在线性 DNA 序列中，但要理解染色体的三维（3D）结构，需要了解远距离 DNA 序列可以通过高度浓缩的染色质包装在核空间中并置，以精确控制基因表达。最近在探索更高阶染色质结构方面的技术创新揭示了 3D 基因组的组织原则及其各种生物学意义。最近有报道称，大规模基因组变异可能破坏高阶染色质组织，从而极大地影响一系列人类疾病的特定疾病基因调控。在这里，我们综述了研究基因调控中结构变异的影响以及在 3D 染色质结构背景下检测和解释结构变异的最新进展。
