Chromosome instability is common in human cleavage-stage embryos - PubMed (original) (raw)
doi: 10.1038/nm.1924. Epub 2009 Apr 26.
Thierry Voet, Cédric Le Caignec, Michèle Ampe, Peter Konings, Cindy Melotte, Sophie Debrock, Mustapha Amyere, Miikka Vikkula, Frans Schuit, Jean-Pierre Fryns, Geert Verbeke, Thomas D'Hooghe, Yves Moreau, Joris R Vermeesch
Affiliations
- PMID: 19396175
- DOI: 10.1038/nm.1924
Free article
Chromosome instability is common in human cleavage-stage embryos
Evelyne Vanneste et al. Nat Med. 2009 May.
Free article
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.
Comment in
- Chaos in the embryo.
Ledbetter DH. Ledbetter DH. Nat Med. 2009 May;15(5):490-1. doi: 10.1038/nm0509-490. Nat Med. 2009. PMID: 19424206 No abstract available.
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