Open Access
Philosophical Transactions of the Royal Society B: Biological Sciences, volume 368, issue 1620, pages 20120359
Functional anatomy of distant-acting mammalian enhancers
2
US Department of Energy Joint Genome Institute, Walnut Creek, CA 94598, USA
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Publication type: Journal Article
Publication date: 2013-05-07
Quartile SCImago
Q1
Quartile WOS
Q1
Impact factor: 6.3
ISSN: 09628436, 14712970
PubMed ID:
23650633
General Biochemistry, Genetics and Molecular Biology
General Agricultural and Biological Sciences
Abstract
Transcriptional enhancers are a major class of functional element embedded in the vast non-coding portion of the human genome. Acting over large genomic distances, enhancers play critical roles in the tissue and cell type-specific regulation of genes, and there is mounting evidence that they contribute to the aetiology of many human diseases. Methods for genome-wide mapping of enhancer regions are now available, but the functional architecture contained within human enhancer elements remains unclear. Here, we review recent approaches aimed at understanding the functional anatomy of individual enhancer elements, using systematic qualitative and quantitative assessments of mammalian enhancer variants in cultured cells and in vivo. These studies provide direct insight into common architectural characteristics of enhancers including the presence of multiple transcription factor-binding sites and the mixture of both transcriptionally activating and repressing domains within the same enhancer. Despite such progress in understanding the functional composition of enhancers, the inherent complexities of enhancer anatomy continue to limit our ability to predict the impact of sequence changes on in vivo enhancer function. While providing an initial glimpse into the mutability of mammalian enhancers, these observations highlight the continued need for experimental enhancer assessment as genome sequencing becomes routine in the clinic.
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- We do not take into account publications that without a DOI.
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Dickel D. E. et al. Functional anatomy of distant-acting mammalian enhancers // Philosophical Transactions of the Royal Society B: Biological Sciences. 2013. Vol. 368. No. 1620. p. 20120359.
GOST all authors (up to 50)
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Dickel D. E., Visel A., Pennacchio L. A. Functional anatomy of distant-acting mammalian enhancers // Philosophical Transactions of the Royal Society B: Biological Sciences. 2013. Vol. 368. No. 1620. p. 20120359.
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TY - JOUR
DO - 10.1098/rstb.2012.0359
UR - https://doi.org/10.1098%2Frstb.2012.0359
TI - Functional anatomy of distant-acting mammalian enhancers
T2 - Philosophical Transactions of the Royal Society B: Biological Sciences
AU - Dickel, D. E.
AU - Visel, A.
AU - Pennacchio, L. A.
PY - 2013
DA - 2013/05/07 00:00:00
PB - The Royal Society
SP - 20120359
IS - 1620
VL - 368
PMID - 23650633
SN - 0962-8436
SN - 1471-2970
ER -
Cite this
BibTex
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@article{2013_Dickel,
author = {D. E. Dickel and A. Visel and L. A. Pennacchio},
title = {Functional anatomy of distant-acting mammalian enhancers},
journal = {Philosophical Transactions of the Royal Society B: Biological Sciences},
year = {2013},
volume = {368},
publisher = {The Royal Society},
month = {may},
url = {https://doi.org/10.1098%2Frstb.2012.0359},
number = {1620},
pages = {20120359},
doi = {10.1098/rstb.2012.0359}
}
Cite this
MLA
Copy
Dickel, D. E., et al. “Functional anatomy of distant-acting mammalian enhancers.” Philosophical Transactions of the Royal Society B: Biological Sciences, vol. 368, no. 1620, May. 2013, p. 20120359. https://doi.org/10.1098%2Frstb.2012.0359.