Chromosome instability is common in human cleavage-stage embryos.
(2009) Nature Medicine — Vol. 15, n° 5, p. 577-583 (2009)
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- Abstract
- Chromosome instability is a hallmark of tumorigenesis. This study establishes that chromosome instability is also common during early human embryogenesis. A new array-based method allowed screening of genome-wide copy number and loss of heterozygosity in single cells. This revealed not only mosaicism for whole-chromosome aneuploidies and uniparental disomies in most cleavage-stage embryos but also frequent segmental deletions, duplications and amplifications that were reciprocal in sister blastomeres, implying the occurrence of breakage-fusion-bridge cycles. This explains the low human fecundity and identifies post-zygotic chromosome instability as a leading cause of constitutional chromosomal disorders.
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Vanneste, E., Voet, T., Le Caignec, C., Ampe, M., Konings, P., Melotte, C., Debrock, S., Amyere, M., Vikkula, M., Schuit, F., Fryns, J.-P., Verbeke, G., D’Hooghe, T., Moreau, Y., & Vermeesch, J. R. (2009). Chromosome instability is common in human cleavage-stage embryos. Nature Medicine, 15(5), 577-583. https://doi.org/10.1038/nm.1924 (Original work published 2009)