ArticleGenome biology and evolution2022
Pleiotropic Enhancers are Ubiquitous Regulatory Elements in the Human Genome.
Article in Genome biology and evolution, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 19 citations in OpenAlex.
- Pleiotropic effects of cis-regulatory mutations.Nature reviews. Genetics · 2026Article
- Advances and clinical potential of epigenome editing.Cellular and molecular life sciences : CMLS · 2026Review
- Phenotypic complexity determines the predictability of molecular convergence.bioRxiv : the preprint server for biology · 2026Article
- Profiling the epigenomic landscape of late embryonic and adult mouse hind limb muscles.Scientific reports · 2026Article
- Entangled and non-modular enhancer sequences producing independent spatial activities.Science advances · 2024Article
- Characterization of Single-Cell Cis-regulatory Elements Informs Implications for Cell Differentiation.Genome biology and evolution · 2024Article
- Article
- Shifting landscapes: the role of 3D genomic organizations in gene regulatory strategies.Current opinion in genetics & development · 2023Review
- Exploring the Role of Enhancer-Mediated Transcriptional Regulation in Precision Biology.International journal of molecular sciences · 2023Review
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Authors and funding
2 authors at 1 institution in 1 country.
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Abstract
Enhancers are regulatory elements of genomes that determine spatio-temporal patterns of gene expression. The human genome contains a vast number of enhancers, which largely outnumber protein-coding genes. Historically, enhancers have been regarded as highly tissue-specific. However, recent evidence has demonstrated that many enhancers are pleiotropic, with activity in multiple developmental contexts. Yet, the extent and impact of pleiotropy remain largely unexplored. In this study we analyzed active enhancers across human organs based on the analysis of both eRNA transcription (FANTOM5 consortium data sets) and chromatin architecture (ENCODE consortium data sets). We show that pleiotropic enhancers are pervasive in the human genome and that most enhancers active in a particular organ are also active in other organs. In addition, our analysis suggests that the proportion of context-specific enhancers of a given organ is explained, at least in part, by the proportion of context-specific genes in that same organ. The notion that such a high proportion of human enhancers can be pleiotropic suggests that small regions of regulatory DNA contain abundant regulatory information and that these regions evolve under important evolutionary constraints.
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