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DNA Methylation: Insights into Human Evolution
Open accessAbstract
A fundamental initiative for evolutionary biologists is to understand the molecular basis underlying phenotypic diversity. A long-standing hypothesis states that species-specific traits may be explained by differences in gene regulation rather than differences at the protein level. Over the past few years, evolutionary studies have shifted from mere sequence comparisons to integrative analyses in which gene regulation is key to understanding species evolution. DNA methylation is an important epigenetic modification involved in the regulation of numerous biological processes. Nevertheless, the evolution of the human methylome and the processes driving such changes are poorly understood. Here, we review the close interplay between Cytosine-phosphate-Guanine (CpG) methylation and the underlying genome sequence, as well as its evolutionary impact. We also summarize the latest advances in the field, revisiting the main literature on human and nonhuman primates. We hope to encourage the scientific community to address the many challenges posed by the field of comparative epigenomics.
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“Along these lines, epigenetic adaptive plasticity is considered to affect speciation (for review see Hernando-Herraez, Garcia-Perez, Sharp, & Marques-Bonet, 2015).”
From The applied implications of epigenetics in anxiety, affective and stress-related disorders - A review and synthesis on psychosocial stress, psychotherapy and prevention (2020) · cites this paper as Hernando-Herraez, Garcia-Perez, Sharp, & Marques-Bonet, 2015
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Metadata
- Authors
- Hernando-Herraez, I., Garcia-Perez, R., Sharp, A. J., & Marques-Bonet, T.
- Affiliations
- Consejo Superior de Investigaciones Científicas (ES)
- Icahn School of Medicine at Mount Sinai (US)
- Corresponding author
- Sharp, Andrew J.
- Venue
- PLOS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2015-12-10
- Volume
- 11
- Issue
- 12
- Pages
- e1005661
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC4684328
- OpenAlex
- W2192647662
- Cited by
- 128
- References
- 99
- Citations by year
- 2026: 11 · 2025: 10 · 2024: 7 · 2023: 16 · 2022: 3 · 2021: 11 · 2020: 23 · 2019: 11 · 2018: 12 · 2017: 8 · 2016: 16
- FWCI
- 1.16
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (publishedVersion, other-oa)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion, cc-by)
- Funders
- March of Dimes Foundation (6-FY13-92)
- Generalitat de Catalunya
- Institució Catalana de Recerca i Estudis Avançats
- Ministerio de Ciencia e Innovación (BFU2014-55090-P)
- National Institutes of Health (1r01da033660-01, 6-FY13-92, DA033660)
- Agència de Gestió d'Ajuts Universitaris i de Recerca
- National Institute of Mental Health (MH097018, R01MH097018)
- National Institute on Drug Abuse (DA033660, R01-DA033660)
- National Human Genome Research Institute (HG006696, R01HG006696)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R03HD073731, HD073731)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Keywords
- DNA methylation, human evolution, CpG methylation, gene expression regulation, epigenetics, comparative epigenomics, non-human primates, phenotypic diversity
- MeSH terms
- Animals, Gene Expression Regulation, Humans, Primates, Genome, Human, CpG Islands, Evolution, Molecular, DNA Methylation, Epigenesis, Genetic
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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