Chromosome instability is common in human cleavage-stage embryos.
paper
Cited
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- Authors
- Vanneste, Evelyne; Voet, Thierry; Le Caignec, Cédric; Ampe, Michèle; Konings, Peter; Melotte, Cindy; Debrock, Sophie; Amyere, Mustapha; Vikkula, Miikka; Schuit, Frans; Fryns, Jean-Pierre; Verbeke, Geert; D'Hooghe, Thomas; Moreau, Yves; Vermeesch, Joris R
- Year
- 2009
- Journal
- Nature medicine
- PMID
- 19396175
- DOI
- 10.1038/nm.1924
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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