AI Article Synopsis
- Sperm production and function rely on proper DNA methylation patterns in germ cells, which change during human spermatogenesis and can be disrupted in abnormal conditions.
- The study observed a global decline in DNA methylation during the development of primary spermatocytes, followed by targeted remethylation resulting in a specific methylation pattern for spermatids and sperm.
- In cases of disturbed spermatogenesis, significant alterations in DNA methylation were noted in germ cells, particularly affecting transposable elements and genes related to sperm development, indicating a link between these methylation changes and issues in germ cell progression.
Article Abstract
Sperm production and function require the correct establishment of DNA methylation patterns in the germline. Here, we examined the genome-wide DNA methylation changes during human spermatogenesis and its alterations in disturbed spermatogenesis. We found that spermatogenesis is associated with remodeling of the methylome, comprising a global decline in DNA methylation in primary spermatocytes followed by selective remethylation, resulting in a spermatids/sperm-specific methylome. Hypomethylated regions in spermatids/sperm were enriched in specific transcription factor binding sites for DMRT and SOX family members and spermatid-specific genes. Intriguingly, while SINEs displayed differential methylation throughout spermatogenesis, LINEs appeared to be protected from changes in DNA methylation. In disturbed spermatogenesis, germ cells exhibited considerable DNA methylation changes, which were significantly enriched at transposable elements and genes involved in spermatogenesis. We detected hypomethylation in SVA and L1HS in disturbed spermatogenesis, suggesting an association between the abnormal programming of these regions and failure of germ cells progressing beyond meiosis.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11179423 | PMC |
| http://dx.doi.org/10.1016/j.ajhg.2024.04.017 | DOI Listing |
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