Summary

Epigenetic regulation underpins the acquisition of male gamete function. DNA methylation patterns are reprogrammed during germ cell development, establishing cell-type specific methylomes that govern gene expression in spermatogonia, spermatocytes and spermatids. Histone modifications and the incorporation of protamines modulate chromatin compaction and influence DNA accessibility, shaping sperm architecture and enabling the efficient transmission of genetic and epigenetic information. Non-coding RNAs, including microRNAs and long non-coding transcripts, provide additional layers of post-transcriptional regulation, orchestrating meiotic progression and post-meiotic maturation. Genomic imprinting maintains parent-specific methylation signatures essential for embryonic growth and is particularly sensitive to environmental and lifestyle factors. Disruption of these mechanisms has been linked to impaired sperm quality, reduced fertilisation potential and altered outcomes in assisted reproductive technologies. Advances in high-resolution epigenomic profiling have revealed the dynamic nature of sperm epigenetic landscapes and raised the prospect of intergenerational inheritance of environmentally induced alterations.

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Epigenetic Mechanisms in Male Fertility publication trend

The graph below shows the total number of articles in epigenetic mechanisms in male fertility across all publications each year (not limited to Nature Index journals).

Technical terms

DNA methylation: Addition of methyl groups to cytosine residues, influencing gene expression and silencing transposable elements.

Histone modification: Post-translational changes to histone proteins, such as acetylation or methylation, that alter chromatin structure and gene accessibility.

Chromatin remodelling: Dynamic reorganisation of chromatin architecture often involving histone variants or ATP-dependent complexes.

Non-coding RNA: RNA molecules that do not encode proteins but regulate gene expression at transcriptional and post-transcriptional levels.

Genomic imprinting: Parent-of-origin specific gene expression governed by differential DNA methylation at imprinted loci.

References

  1. Genome-wide DNA methylation changes in human spermatogenesis. American Journal of Human Genetics (2024).
  2. H19 Sperm Methylation in Male Infertility: A Systematic Review and Meta-Analysis. International Journal of Molecular Sciences (2023).
  3. Does Sperm SNRPN Methylation Change with Fertility Status and Age? A Systematic Review and Meta-Regression Analysis. Biomedicines (2024).
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