Sperm DNA damage causes genomic instability in early embryonic development

Publication date

2020-04-15

Authors

Middelkamp, Sjors
van Tol, Helena
Spierings, Diana
Boymans, Sander
Guryev, Victor
Roelen, Bernard
Lansdorp, Peter
Cuppen, EdwinISNI 0000000139479002
Kuijk, Ewart

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Document Type

Article
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Abstract

Genomic instability is common in early embryo development, but the underlying causes are largely unknown. Here we examined the consequences of sperm DNA damage on the embryonic genome by single-cell genome sequencing of individual blastomeres from bovine embryos produced with sperm damaged by radiation. Sperm DNA damage caused fragmentation of chromosomes and segregation errors such as heterogoneic cell divisions yielding a broad spectrum of genomic aberrations that are similar to those frequently found in human embryos. The mosaic aneuploidies, mixoploidy, uniparental disomies and de novo structural variation induced upon sperm DNA damage may compromise health and lead to rare genomic disorders when embryos escape developmental arrest.One Sentence Summary DNA damage in sperm cells leads to genomic defects in embryos

Keywords

Biology, Chromosome, DNA damage, DNA sequencing, Embryo, Genetics, Genome, Genome instability, Sperm, Structural variation

Citation

Middelkamp, S, van Tol, H, Spierings, D, Boymans, S, Guryev, V, Roelen, B, Lansdorp, P, Cuppen, E & Kuijk, E 2020, 'Sperm DNA damage causes genomic instability in early embryonic development', Science advances, vol. 6, no. 16, eaaz7602, pp. 1-12. https://doi.org/10.1126/sciadv.aaz7602