Chromosome instability is common in human cleavage-stage embryos
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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Chromosome instability, including whole or segmental chromosome gain or loss, is common in human preimplantation embryos.
“Chromosome instability, including whole or segmental chromosome gain or loss, is common in human preimplantation embryos (27,28).”
From Frequent loss of heterozygosity in CRISPR-Cas9–edited early human embryos (2021) · cites this paper as [27]
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- Authors
- Vanneste, E., Voet, T., Le Caignec, C., Ampe, M., Konings, P., Melotte, C., Debrock, S., Amyere, M., Vikkula, M., Schuit, F., Fryns, J.-P., Verbeke, G., D'Hooghe, T., Moreau, Y., & Vermeesch, J. R.
- Affiliations
- KU Leuven (BE)
- de Duve Institute (BE)
- Universitair Ziekenhuis Leuven (BE)
- Corresponding author
- Vermeesch, Joris R
- ORCID
- Venue
- Nature Medicine
- Published
- 2009-04-26
- Volume
- 15
- Issue
- 5
- Pages
- 577-583
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- OpenAlex
- W2133381977
- Cited by
- 880
- References
- 0
- Citations by year
- 2026: 24 · 2025: 34 · 2024: 34 · 2023: 41 · 2022: 46 · 2021: 62 · 2020: 40 · 2019: 41 · 2018: 76 · 2017: 43 · 2016: 50 · 2015: 59 · 2014: 55 · 2013: 53 · 2012: 57
- FWCI
- 64.43
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Medicine (publishedVersion)
- PubMed (publishedVersion)
- Digital Access to Libraries (Université catholique de Louvain (UCL), l'Université de Namur (UNamur) and the Université Saint-Louis (USL-B)) (submittedVersion)
- Lirias (submittedVersion)
- Funders
- Wellcome Trust
- Vlaams Instituut voor Biotechnologie
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Microtubule and mitosis dynamics
- Keywords
- chromosomal instability, cleavage-stage embryos, copy number variation, loss of heterozygosity, mosaicism, whole-chromosome aneuploidy, uniparental disomy, segmental duplication, segmental deletion, breakage-fusion-bridge cycles, miscarriage, in vitro fertilization
- MeSH terms
- Adult, Aneuploidy, Blastomeres, Embryo, Mammalian, Female, Fertilization in Vitro, Humans, Pregnancy, In Situ Hybridization, Fluorescence, Loss of Heterozygosity, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Chromosomal Instability
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