Sperm epigenetics and influence of environmental factors
Open accessAbstract
BACKGROUND: Developmental programming of the embryo is controlled by genetic information but also dictated by epigenetic information contained in spermatozoa. Lifestyle and environmental factors not only influence health in one individual but can also affect the phenotype of the following generations. This is mediated via epigenetic inheritance i.e., gametic transmission of environmentally-driven epigenetic information to the offspring. Evidence is accumulating that preconceptional exposure to certain lifestyle and environmental factors, such as diet, physical activity, and smoking, affects the phenotype of the next generation through remodeling of the epigenetic blueprint of spermatozoa. SCOPE OF REVIEW: This review will summarize current knowledge about the different epigenetic signals in sperm that are responsive to environmental and lifestyle factors and are capable of affecting embryonic development and the phenotype of the offspring later in life. MAJOR CONCLUSIONS: Like somatic cells, the epigenome of spermatozoa has proven to be dynamically reactive to a wide variety of environmental and lifestyle stressors. The functional consequence on embryogenesis and phenotype of the next generation remains largely unknown. However, strong evidence of environmentally-driven sperm-borne epigenetic factors, which are capable of altering the phenotype of the next generation, is emerging on a large scale.
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The adoption of actual epigenetic assays by a large number of fertility laboratories will require robust research and clinical trials proving their value in diagnostic andrology.
“These assays may have a use in the evaluation of male infertility, however, their adoption by a large number of fertility laboratories will require robust research and clinical trials proving their value in diagnostic andrology [11,38].”
From The Sixth Edition of the WHO Manual for Human Semen Analysis: A Critical Review and SWOT Analysis (2021) · cites this paper as [38]
The Introduction discusses sperm epigenetics as a possible mechanism of inheritance, and the Concluding remarks discuss confounders in that research. Neither section addresses adoption of epigenetic assays by fertility laboratories or a need for clinical trials to establish their diagnostic value in andrology. Searches for clinical validation, infertility diagnostics, and laboratory adoption found no passage making that point. (LLM, conf=0.72)
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The Sixth Edition of the WHO Manual for Human Semen Analysis: A Critical Review and SWOT Analysis
Boitrelle, F., Shah, R., Saleh, R., Henkel, R., Kandil, H., Chung, E., Vogiatzi, P., Zini, A., Arafa, M., & Agarwal, A. (2021) · Life · doi:10.3390/life11121368 · Cited by 271 · see citing works
Haimbaugh, A., Meyer, D. N., Connell, M. L., Blount-Pacheco, J., Tolofari, D., Gonzalez, G., Banerjee, D., Norton, J., Miller, C. J., & Baker, T. R. (2024) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph21121615 · Cited by 21 · see citing works
- Authors
- Donkin, I., & Barrès, R.
- Affiliations
- University of Copenhagen (DK)
- Corresponding author
- Barrès, Romain
- Venue
- Molecular Metabolism
- Publisher
- Elsevier BV
- Published
- 2018-08
- Volume
- 14
- Pages
- 1-11
- ISSN
- 2212-8778 (ISSN-L)
- PMC
- PMC6034033
- OpenAlex
- W2791924680
- Cited by
- 331
- References
- 8
- Citations by year
- 2026: 15 · 2025: 41 · 2024: 38 · 2023: 46 · 2022: 49 · 2021: 60 · 2020: 30 · 2019: 41 · 2018: 11
- FWCI
- 5.40
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Molecular Metabolism (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by-nc-nd)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Novo Nordisk Fonden
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Birth, Development, and Health
- Keywords
- sperm epigenetics, epigenetic inheritance, environmental factors, lifestyle factors, preconception exposure, diet, physical activity, smoking, embryonic development, developmental programming, transgenerational effects, spermatozoa
- MeSH terms
- Animals, Environment, Humans, Male, Spermatozoa, Stress, Physiological, DNA Methylation, Chromatin Assembly and Disassembly, Epigenesis, Genetic
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