Characterization of Structural Variations in the Context of 3D Chromatin Structure

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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 three-dimensional (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.
Publisher
KOREAN SOC MOLECULAR & CELLULAR BIOLOGY
Issue Date
2019-07
Language
English
Article Type
Review
Citation

MOLECULES AND CELLS, v.42, no.7, pp.512 - 522

ISSN
1016-8478
DOI
10.14348/molcells.2019.0137
URI
http://hdl.handle.net/10203/264389
Appears in Collection
BS-Journal Papers(저널논문)
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