The role of 3D genome organization in disease: From compartments to single nucleotides.

The role of 3D genome organization in disease: From compartments to single nucleotides.
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DOI:
10.1016/j.semcdb.2018.07.005
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发表时间:
2019-06
影响因子:
7.3
通讯作者:
Ay F
Ay F
中科院分区:
生物学2区
文献类型:
--
作者:
Chakraborty A;Ay F

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自从染色体构象捕获技术出现以来,我们对人类基因组3D组织的理解迅速增长,我们现在知道人类间期染色体折叠成多层分层结构,每层都可以在转录调控中发挥关键作用。这些精细调节层中的任何一层的改变都可能导致不必要的分子事件级联,并最终驱动疾病和表型的表现。在这里,我们讨论,从染色体水平的组织到单核苷酸的变化,最近的研究将疾病或表型与3D基因组结构的变化联系起来。
Since the advent of the chromosome conformation capture technology, our understanding of the human genome 3D organization has grown rapidly and we now know that human interphase chromosomes are folded into multiple layers of hierarchical structures and each layer can play a critical role in transcriptional regulation. Alterations in any one of these finely-tuned layers can lead to unwanted cascade of molecular events and ultimately drive the manifestation of diseases and phenotypes. Here we discuss, starting from chromosome level organization going down to single nucleotide changes, recent studies linking diseases or phenotypes to changes in the 3D genome architecture.
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