Abstract：
:Understanding how transcriptional enhancers control over 20,000 protein-coding genes to maintain cell-type-specific gene expression programs in all human cells is a fundamental challenge in regulatory biology. Recent studies suggest that gene regulatory elements and their target genes generally occur within insulated neighborhoods, which are chromosomal loop structures formed by the interaction of two DNA sites bound by the CTCF protein and occupied by the cohesin complex. Here, we review evidence that insulated neighborhoods provide for specific enhancer-gene interactions, are essential for both normal gene activation and repression, form a chromosome scaffold that is largely preserved throughout development, and are perturbed by genetic and epigenetic factors in disease. Insulated neighborhoods are a powerful paradigm for gene control that provides new insights into development and disease.
journal_name
Celljournal_title
Cellauthors
Hnisz D,Day DS,Young RAdoi
10.1016/j.cell.2016.10.024subject
Has Abstractpub_date
2016-11-17 00:00:00pages
1188-1200issue
5eissn
0092-8674issn
1097-4172pii
S0092-8674(16)31444-1journal_volume
167pub_type
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