Pleiotropic effects of cis-regulatory mutations

Wray, G. A. The evolutionary significance of cis-regulatory mutations. Nat. Rev. Genet. 8, 206–216 (2007).

Article  CAS  PubMed  Google Scholar 

Wagner, G. P. & Lynch, V. J. The gene regulatory logic of transcription factor evolution. Trends Ecol. Evol. 23, 377–385 (2008).

Article  PubMed  Google Scholar 

Vande Zande, P., Hill, M. S. & Wittkopp, P. J. Pleiotropic effects of trans-regulatory mutations on fitness and gene expression. Science 377, 105–109 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sabarís, G., Laiker, I., Preger-Ben Noon, E. & Frankel, N. Actors with multiple roles: pleiotropic enhancers and the paradigm of enhancer modularity. Trends Genet. 35, 423–433 (2019).

Article  PubMed  Google Scholar 

Laiker, I. & Frankel, N. Pleiotropic enhancers are ubiquitous regulatory elements in the human genome. Genome Biol. Evol. 14, evac071 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Singh, D. & Yi, S. V. Enhancer pleiotropy, gene expression, and the architecture of human enhancer-gene interactions. Mol. Biol. Evol. 38, 3898–3909 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gasperini, M. et al. A genome-wide framework for mapping gene regulation via cellular genetic screens. Cell 176, 377–390.e19 (2019).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Huang, Y. et al. Two unrelated distal genes activated by a shared enhancer benefit from localizing inside the same small topological domain. Genes Dev. 39, 348–363 (2025).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wan, J. et al. Comprehensive mapping of genetic variation at Epromoters reveals pleiotropic association with multiple disease traits. Nucleic Acids Res. 53, gkae1270 (2025).

Article  PubMed  PubMed Central  Google Scholar 

Rajderkar, S. et al. Topologically associating domain boundaries are required for normal genome function. Commun. Biol. 6, 435 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Halfon, M. S. Studying transcriptional enhancers: the founder fallacy, validation creep, and other biases. Trends Genet. 35, 93–103 (2019).

Article  CAS  PubMed  Google Scholar 

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