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Related Concept Videos

Epigenetic Regulation01:37

Epigenetic Regulation

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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
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Epigenetic Regulation01:46

Epigenetic Regulation

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Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Single Oocyte Bisulfite Mutagenesis
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DNA methylation in human sperm: a systematic review.

Fredrika Åsenius1, Amy F Danson2, Sarah J Marzi3,4

  • 1UCL EGA Institute for Women's Health, London WC1E 6AU, UK.

Human Reproduction Update
|August 14, 2020
PubMed
Summary

Human sperm DNA methylation is linked to male subfertility but not offspring health. Environmental factors like smoking and age may influence sperm DNA methylation, though findings need replication.

Keywords:
DNA methylationepigenetic association studiesepigeneticsfertilityhuman spermhuman spermatozoamethylomereproductive healthtransgenerational inheritance

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Area of Science:

  • Reproductive Biology
  • Epigenetics
  • Environmental Health

Background:

  • Environmental factors may impact spermatozoal DNA methylation.
  • Sperm DNA methylation is implicated in subfertility and imprinting disorders.
  • Research into human sperm DNA methylation is increasing due to cost-effective methods.

Purpose of the Study:

  • Critically appraise literature on human sperm DNA methylation.
  • Summarize current knowledge on sperm DNA methylation.
  • Provide recommendations for future research.

Main Methods:

  • Systematic review of PubMed, Web of Science, and Cochrane Library databases.
  • Search terms: 'semen' OR 'sperm' AND 'DNA methylation'.
  • Included English publications from 2003-2020; excluded methodology/forensic studies, reviews, and commentaries.
  • Evaluated evidence quality using GRADE criteria.

Main Results:

  • 135 studies included: 56 on fertility, 20 on pregnancy outcomes, 59 on environmental factors.
  • Abnormal spermatozoal DNA methylation of imprinted regions associated with male subfertility/oligozoospermia.
  • No convincing replication of specific DNA methylation signatures for subfertility.
  • Spermatozoal DNA methylome influenced by smoking, age, and pollutants; findings require replication.
  • No convincing evidence links sperm DNA methylation changes to pregnancy outcomes or offspring health.

Conclusions:

  • Human sperm DNA methylation appears influenced by environmental and physiological factors.
  • No findings have been robustly replicated across studies.
  • Recommendations for future research include multicenter collaborations and complex statistical models with phenotype data.