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Cis-regulatory elements: molecular mechanisms and evolutionary processes underlying divergence
Abstract
Cis-regulatory sequences, such as enhancers and promoters, control development and physiology by regulating gene expression. Mutations that affect the function of these sequences contribute to phenotypic diversity within and between species. With many case studies implicating divergent cis-regulatory activity in phenotypic evolution, researchers have recently begun to elucidate the genetic and molecular mechanisms that are responsible for cis-regulatory divergence. Approaches include detailed functional analysis of individual cis-regulatory elements and comparing mechanisms of gene regulation among species using the latest genomic tools. Despite the limited number of mechanistic studies published to date, this work shows how cis-regulatory activity can diverge and how studies of cis-regulatory divergence can address long-standing questions about the genetic mechanisms of phenotypic evolution.
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“Furthermore, variation in prairie vole NAcc OXTR confers susceptibility or resilience to the effects of daily neonatal isolations, a model of neglect, in relation to the ability to form social attachments as adults (41).”
From Variation in the Oxytocin Receptor Gene Predicts Brain Region–Specific Expression and Social Attachment (2016) · cites this paper as [41]
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Metadata
- Authors
- Wittkopp, P. J., & Kalay, G.
- Affiliations
- University of Michigan (US)
- Corresponding author
- Wittkopp, Patricia J.
- Venue
- Nature Reviews Genetics
- Published
- 2011-12-06
- Volume
- 13
- Issue
- 1
- Pages
- 59-69
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2089806726
- Cited by
- 1,231
- References
- 103
- Citations by year
- 2026: 112 · 2025: 128 · 2024: 129 · 2023: 112 · 2022: 103 · 2021: 99 · 2020: 95 · 2019: 74 · 2018: 74 · 2017: 55 · 2016: 75 · 2015: 66 · 2014: 48 · 2013: 41 · 2012: 18
- FWCI
- 3.11
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Keywords
- cis-regulatory elements, enhancers, promoter, cis-regulatory divergence, phenotypic evolution, transcription factor binding, genetic mutations, gene expression regulation, phenotypic diversity
- MeSH terms
- Animals, Base Sequence, Enhancer Elements, Genetic, Gene Expression Regulation, Humans, Regulatory Sequences, Nucleic Acid, Genome, Conserved Sequence, Evolution, Molecular, Computational Biology, Genomics, Mice
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