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Updated: Dec 19, 2025

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects
Published on: April 21, 2022
Sperm DNA damage causes genomic instability in early embryonic development.
Sjors Middelkamp1, Helena T A van Tol2, Diana C J Spierings3
1Center for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht University, Universiteitsweg 100, Utrecht 3584 CG, Netherlands.
Sperm DNA damage causes paternal chromosome fragmentation and chaotic mosaicism in early embryos. This genomic instability may impact fertility and lead to congenital disorders.
Area of Science:
- Reproductive Biology
- Genetics
- Developmental Biology
Background:
- Genomic instability is frequently observed in human embryos.
- The causes of embryonic genomic instability are not well understood.
- Sperm DNA damage is a potential contributor to genomic instability.
Purpose of the Study:
- To investigate the effects of sperm DNA damage on the embryonic genome.
- To analyze the consequences of radiation-induced sperm DNA damage on early embryonic development.
Main Methods:
- Single-cell whole-genome sequencing of bovine embryo blastomeres.
- Production of bovine embryos using sperm damaged by gamma radiation.
Main Results:
- Sperm DNA damage leads to paternal chromosome fragmentation and random distribution of fragments.
- Sperm DNA damage induces unequal cell cleavages and heterogoneic divisions.
- Embryos from damaged sperm exhibit chaotic mosaicism, including aneuploidies, uniparental disomies, and structural variations.
Conclusions:
- Sperm DNA damage is a significant source of embryonic genomic instability and mosaicism.
- This instability can compromise fertility and potentially lead to congenital disorders.
- Understanding these mechanisms is crucial for reproductive health.
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