ArticlePLoS genetics2014
Copy number variation is a fundamental aspect of the placental genome.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 65 citations in OpenAlex.
- Extensive load of somatic CNVs in the human placenta.Scientific reports · 2015Trial
- Chronic replication stress-mediated genomic instability disrupts placenta development in mice.PLoS genetics · 2026Article
- An allele-resolved nanopore-guided tour of the human placental methylome.Nature communications · 2025Article
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- The antagonistic relationship between apoptosis and polyploidy in development and cancer.Seminars in cell & developmental biology · 2024Review
- Polyploid Cancer Cell Models in Drosophila.Genes · 2024Review
- Vitamin E supplementation prevents obesogenic diet-induced developmental abnormalities in SR-B1 deficient embryos.Frontiers in cell and developmental biology · 2024Article
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- Transcriptomic Drivers of Differentiation, Maturation, and Polyploidy in Human Extravillous Trophoblast.Frontiers in cell and developmental biology · 2021Article
- Integrating Mathematical Modeling with High-Throughput Imaging Explains How Polyploid Populations Behave in Nutrient-Sparse Environments.Cancer research · 2020Article
- Effects of Mutations in theCells · 2020Article
- Complex patterns of cell growth in the placenta in normal pregnancy and as adaptations to maternal diet restriction.PloS one · 2020Article
- Prospect and challenge of detecting dynamic gene copy number increases in stem cells by whole genome sequencing.Journal of molecular medicine (Berlin, Germany) · 2019Article
- Article
- Solving the Polyploid Mystery in Health and Disease.Trends in genetics : TIG · 2019Review
- Article
- Genome amplification and cellular senescence are hallmarks of human placenta development.PLoS genetics · 2018Article
- Dynamic changes in ORC localization and replication fork progression during tissue differentiation.BMC genomics · 2018Article
- Endoreduplication of the mouse genome in the absence of ORC1.Genes & development · 2018Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Discovery of lineage-specific somatic copy number variation (CNV) in mammals has led to debate over whether CNVs are mutations that propagate disease or whether they are a normal, and even essential, aspect of cell biology. We show that 1,000 N polyploid trophoblast giant cells (TGCs) of the mouse placenta contain 47 regions, totaling 138 Megabases, where genomic copies are underrepresented (UR). UR domains originate from a subset of late-replicating heterochromatic regions containing gene deserts and genes involved in cell adhesion and neurogenesis. While lineage-specific CNVs have been identified in mammalian cells, classically in the immune system where V(D)J recombination occurs, we demonstrate that CNVs form during gestation in the placenta by an underreplication mechanism, not by recombination nor deletion. Our results reveal that large scale CNVs are a normal feature of the mammalian placental genome, which are regulated systematically during embryogenesis and are propagated by a mechanism of underreplication.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.