Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Aug;20(8):437-455.
doi: 10.1038/s41576-019-0128-0.

Long-range enhancer-promoter contacts in gene expression control

Stefan Schoenfelder  1   2 , Peter Fraser  3   4
Affiliations
Review

Long-range enhancer-promoter contacts in gene expression control

Stefan Schoenfelder et al. Nat Rev Genet. 2019 Aug.

Abstract

Spatiotemporal gene expression programmes are orchestrated by transcriptional enhancers, which are key regulatory DNA elements that engage in physical contacts with their target-gene promoters, often bridging considerable genomic distances. Recent progress in genomics, genome editing and microscopy methodologies have enabled the genome-wide mapping of enhancer-promoter contacts and their functional dissection. In this Review, we discuss novel concepts on how enhancer-promoter interactions are established and maintained, how the 3D architecture of mammalian genomes both facilitates and constrains enhancer-promoter contacts, and the role they play in gene expression control during normal development and disease.

PubMed Disclaimer

References

    1. Plank, J. L. & Dean, A. Enhancer function: mechanistic and genome-wide insights come together. Mol. Cell 55, 5–14 (2014). - PubMed - DOI - PMC
    1. Pombo, A. & Dillon, N. Three-dimensional genome architecture: players and mechanisms. Nat. Rev. Mol. Cell Biol. 16, 245–257 (2015). - PubMed - DOI
    1. Long, H. K., Prescott, S. L. & Wysocka, J. Ever-changing landscapes: transcriptional enhancers in development and evolution. Cell 167, 1170–1187 (2016). - PubMed - PMC - DOI
    1. Furlong, E. E. M. & Levine, M. Developmental enhancers and chromosome topology. Science 361, 1341–1345 (2018). - PubMed - DOI - PMC
    1. Lettice, L. A. et al. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum. Mol. Genet. 12, 1725–1735 (2003). This work identified the long-range ZRS enhancer driving the expression of Shh in the developing limb bud and demonstrated that point mutations in this enhancer can cause congenital limb malformations. - PubMed - DOI

Publication types