ReviewPhilosophical transactions of the Royal Society of London. Series B, Biological sciences2013
Functional anatomy of distant-acting mammalian enhancers.
Review in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 42 citations in OpenAlex.
- Cis-regulatory interfaces reveal the molecular mechanisms underlying the notochord gene regulatory network of Ciona.Nature communications · 2024Article
- Post-GWAS functional studies reveal an RA-associated CD40-induced NF-kB signal transduction and transcriptional regulation network targeted by class II HDAC inhibitors.Human molecular genetics · 2021Article
- Article
- An osmolality/salinity-responsive enhancer 1 (OSRE1) in intron 1 promotes salinity induction of tilapia glutamine synthetase.Scientific reports · 2020Article
- Interrogating the Grainyhead-like 2 (Grhl2) genomic locus identifies an enhancer element that regulates palatogenesis in mouse.Developmental biology · 2020Article
- TCF/LEF dependent and independent transcriptional regulation of Wnt/β-catenin target genes.The EMBO journal · 2019Article
- Spatial Principles of Chromatin Architecture Associated With Organ-Specific Gene Regulation.Frontiers in cardiovascular medicine · 2018Article
- Chromosomal Conformations and Epigenomic Regulation in Schizophrenia.Progress in molecular biology and translational science · 2018Review
- Human evolution: the non-coding revolution.BMC biology · 2017Review
- Quantifying deleterious effects of regulatory variants.Nucleic acids research · 2017Article
- Spatial genome organization and cognition.Nature reviews. Neuroscience · 2016Review
- Article
- A Mammalian enhancer trap resource for discovering and manipulating neuronal cell types.eLife · 2016Article
- Deciphering the importance of the palindromic architecture of the immunoglobulin heavy-chain 3' regulatory region.Nature communications · 2016Article
- Human Enhancers Are Fragile and Prone to Deactivating Mutations.Molecular biology and evolution · 2015Article
- Conserved higher-order chromatin regulates NMDA receptor gene expression and cognition.Neuron · 2014Article
- In pursuit of design principles of regulatory sequences.Nature reviews. Genetics · 2014Review
- Evolution of transcription factor binding in metazoans - mechanisms and functional implications.Nature reviews. Genetics · 2014Review
- Article
- Regulation from a distance: long-range control of gene expression in development and disease.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2013Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.