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The structural and functional roles of CTCF in the regulation of cell type-specific and human disease-associated super-enhancers

Shin, Ha Youn
Genes & genomics 2019 v.41 no.3 pp. 257-265
bioactive properties, chromatin, disease course, gene editing, genes, human diseases, humans, repressor proteins
BACKGROUND: Super-enhancers play critical roles in cell-type specific gene controls and human disease progression. CCCTC-binding factor (CTCF), a transcriptional repressor that insulates the expression of neighboring genes and is involved in chromatin interactions, is frequently present in the boundary regions of or within super-enhancers. However, the structural and functional roles of CTCF in regulating super-enhancers remain elusive. OBJECTIVE: To provide a comprehensive review describing the distinct chromatin features and functional roles of CTCF within super-enhancers. METHODS: This review compares the various tools used to study the three-dimensional (3D) chromatin architecture of super-enhancers; summarizes the chromatin features of CTCF within cell-type specific super-enhancers and their in vivo biological activities, as determined by CRISPR/Cas9 genome editing; and describes the structural and functional activities of CTCF within human disease-associated super-enhancers. CONCLUSION: This review provides fundamental insights into the regulatory mechanisms of super-enhancers and facilitates studies of tissue-specific developmental processes and human disease progression.