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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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Epigenetic Regulation01:37

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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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The ovarian cycle is meticulously regulated by the hypothalamic-pituitary-gonadal axis. This cycle orchestrates the release of a mature oocyte, essential for reproduction.
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Epigenetics of oogenesis.

Neda Sindik1, Nina Pereza1, Sanja Dević Pavlić2

  • 1Faculty of Medicine, Department of Medical Biology and Genetics, University of Rijeka, Braće Branchetta 20, 51000, Rijeka, Croatia.

Archives of Gynecology and Obstetrics
|December 18, 2024
PubMed
Summary

Epigenetic modifications like DNA methylation and histone alterations are vital for gamete development and genome stability. Disruptions to these epigenetic processes can impact reproductive health and may be influenced by assisted reproductive technologies (ART).

Keywords:
Assisted reproductionEpigeneticsInfertilityOocytesReproductive health

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Area of Science:

  • Reproductive Biology
  • Epigenetics
  • Genomics

Background:

  • Epigenetic modifications, including DNA methylation, histone alterations, and non-coding RNAs, regulate gene expression without altering DNA sequence.
  • These modifications are crucial for protecting the genome during gametogenesis and early embryonic development.
  • Epigenetic changes are susceptible to disruption by external factors, impacting reproductive outcomes.

Purpose of the Study:

  • To review key epigenetic modifications essential for oocyte development.
  • To highlight the role of epigenetics in reproductive disorders.
  • To discuss the influence of assisted reproductive technology (ART) on gamete epigenome remodeling.

Main Methods:

  • Literature review of epigenetic mechanisms in gametogenesis.
  • Analysis of studies on DNA methylation, histone modifications, and non-coding RNAs in germ cells.
  • Examination of research linking ART to epigenetic alterations in gametes.

Main Results:

  • DNA methylation and demethylation waves are critical for restoring pluripotency and establishing gamete identity.
  • Histone modifications, such as deacetylation, play roles in chromatin condensation and chromosomal segregation.
  • Germline-specific non-coding RNAs (ncRNAs) and piwi-interacting RNAs (piRNAs) safeguard genome stability by inhibiting transposons.

Conclusions:

  • Epigenetic integrity is fundamental for successful oocyte development and reproductive function.
  • Dysregulation of epigenetic marks is associated with infertility and reproductive disorders.
  • ART interventions may impact the epigenome, necessitating further investigation into their long-term effects on reproductive health.