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Chromosome instability is common in human cleavage-stage embryos
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Journal Article
Chromosome instability is common in human cleavage-stage embryos
2009
Overview
Vanneste and her colleagues describe an array-based approach for scoring genome-wide DNA copy number variations and loss of heterozygosity in single cells. They show that chromosome instability patterns, reminiscent of those seen in human cancers, are also common in cleavage-stage
in vitro
–fertilized embryos. Such findings during early human embryogenesis could provide a basis for the low fecundity and high miscarriage rate in humans
pages 490–491
..
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Biomedical and Life Sciences
/ Complications and side effects
/ Embryo, Mammalian - abnormalities
/ Embryo, Mammalian - pathology
/ Embryos
/ Female
/ Fertilization in Vitro - adverse effects
/ Genomics
/ Humans
/ In Situ Hybridization, Fluorescence
/ Oligonucleotide Array Sequence Analysis
/ Polymorphism, Single Nucleotide
