Technical Report abstract
Nature Medicine 15, 577 - 583 (2009)
Published online: 26 April 2009 | doi:10.1038/nm.1924
Chromosome instability is common in human cleavage-stage embryos
Evelyne Vanneste1,2,9, Thierry Voet1,9, Cédric Le Caignec1,3,4, Michèle Ampe5, Peter Konings6, Cindy Melotte1, Sophie Debrock2, Mustapha Amyere7, Miikka Vikkula7, Frans Schuit8, Jean-Pierre Fryns1, Geert Verbeke5, Thomas D'Hooghe2, Yves Moreau6 & Joris R Vermeesch1
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.
- Center for Human Genetics, K.U.Leuven, Leuven, Belgium.
- Leuven University Fertility Center, University Hospital Gasthuisberg, Leuven, Belgium.
- Centre Hospitalier Universitaire de Nantes, Service de Génétique Medicale, Nantes Cedex, France.
- Institut National de la Santé et de la Recherche Médicale, l'Institut du Thorax, Nantes, France.
- Interuniversity Institute for Biostatistics and Statistical Bioinformatics, K.U.Leuven, Leuven, Belgium.
- ESAT-SISTA, K.U.Leuven, Heverlee, Belgium.
- de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
- Molecular Cell Biology, Gene Expression Group, University Hospital Gasthuisberg, Leuven, Belgium.
- These authors contributed equally to this work.
Correspondence to: Joris R Vermeesch1 e-mail: joris.vermeesch@uz.kuleuven.be
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