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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.
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Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male...
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Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Related Experiment Video

Updated: Jun 26, 2025

Immunostaining for DNA Modifications: Computational Analysis of Confocal Images
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Genome-wide DNA methylation changes in human spermatogenesis.

Lara M Siebert-Kuss1, Verena Dietrich2, Sara Di Persio1

  • 1Centre of Reproductive Medicine and Andrology, Institute of Reproductive and Regenerative Biology, University of Münster, Münster, Germany.

American Journal of Human Genetics
|May 17, 2024
PubMed
Summary

Sperm development involves significant DNA methylation changes, with specific patterns in healthy sperm. Disturbed sperm development shows altered methylation, particularly at transposable elements, potentially hindering germ cell progression.

Keywords:
DNA methylationepigeneticsgermlinehuman spermatogenesisinfertilitymale germ cellsmethylometransposable elements

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Area of Science:

  • Reproductive Biology
  • Epigenetics
  • Genomics

Background:

  • Sperm production and function depend on precise DNA methylation in germline cells.
  • Understanding DNA methylation dynamics is crucial for male fertility.

Purpose of the Study:

  • To investigate genome-wide DNA methylation changes during human spermatogenesis.
  • To identify DNA methylation alterations in disturbed spermatogenesis.

Main Methods:

  • Genome-wide DNA methylation profiling of human germ cells.
  • Analysis of methylation patterns in healthy and disturbed spermatogenesis.

Main Results:

  • Spermatogenesis involves methylome remodeling: global decline in primary spermatocytes, followed by selective remethylation.
  • Spermatids/sperm exhibit specific hypomethylated regions enriched in transcription factor binding sites (DMRT, SOX) and spermatid-specific genes.
  • Short interspersed nuclear elements (SINEs) show differential methylation, while long interspersed nuclear elements (LINEs) are protected.
  • Disturbed spermatogenesis reveals significant DNA methylation changes at transposable elements and spermatogenesis-related genes.
  • Hypomethylation in SVA and L1HS elements in disturbed spermatogenesis correlates with impaired germ cell progression.

Conclusions:

  • Human spermatogenesis is characterized by dynamic methylome remodeling.
  • Aberrant DNA methylation, especially at transposable elements, is linked to failed germ cell development in disturbed spermatogenesis.