Chromosome instability is common in human cleavage-stage embryos

E Vanneste, T Voet, C Le Caignec, M Ampe… - Nature medicine, 2009 - nature.com
E Vanneste, T Voet, C Le Caignec, M Ampe, P Konings, C Melotte, S Debrock, M Amyere
Nature medicine, 2009nature.com
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 …
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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