ArticleNature communications2019
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 44 citations in OpenAlex.
- Molecular cartography of the human down syndrome and trisomic mouse brain.Nature communications · 2025Article
- Copy number normalization distinguishes differential signals driven by copy number differences in ATAC-seq and ChIP-seq.BMC genomics · 2025Article
- Comparative Transcriptomic Analyses Reveal Differences in the Responses of Diploid and Triploid Eastern Oysters to Environmental Stress.Evolutionary applications · 2024Article
- The effect of trisomic chromosomes on spatial genome organization and global transcription in embryonic stem cells.Cell proliferation · 2024Article
- Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome.Nature communications · 2024Article
- Premature aging in aneuploid yeast is caused in part by aneuploidy-induced defects in Ribosome Quality Control.bioRxiv : the preprint server for biology · 2024Article
- A dynamic in vitro model of Down syndrome neurogenesis with trisomy 21 gene dosage correction.Science advances · 2024Article
- Inverse and ProportionalGenes · 2024Article
- Gene Expression Studies in Down Syndrome: What Do They Tell Us about Disease Phenotypes?International journal of molecular sciences · 2024Review
- Insights into embryonic chromosomal instability: mechanisms of DNA elimination during mammalian preimplantation development.Frontiers in cell and developmental biology · 2024Review
- Article
- Transcription dosage compensation does not occur in Down syndrome.BMC biology · 2023Article
- Cell type characterization of spatiotemporal gene co-expression modules in Down syndrome brain.iScience · 2023Article
- Single-cell sequencing: promises and challenges for human genetics.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Detection of Embryonic Trisomy 21 in the First Trimester Using Maternal Plasma Cell-Free RNA.Diagnostics (Basel, Switzerland) · 2022Article
- Genomic Imprinting in the New Omics Era: A Model for Systems-Level Approaches.Frontiers in genetics · 2022Review
- Stochastic gene expression and chromosome interactions in protecting the human active X from silencing byNucleus (Austin, Tex.) · 2021Article
- Altered cell and RNA isoform diversity in aging Down syndrome brains.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Down syndrome and type I interferon: not so simple.Current opinion in immunology · 2021Review
- Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society.Molecular syndromology · 2021Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aneuploidy is a major source of gene dosage imbalance due to copy number alterations (CNA), and viable human trisomies are model disorders of altered gene expression. We study gene and allele-specific expression (ASE) of 9668 single-cell fibroblasts from trisomy 21 (T21) discordant twins and from mosaic T21, T18, T13 and T8. We examine 928 single cells with deep scRNAseq. Expected and observed overexpression of trisomic genes in trisomic vs. diploid bulk RNAseq is not detectable in trisomic vs. diploid single cells. Instead, for trisomic genes with low-to-average expression, their altered gene dosage is mainly due to the higher fraction of trisomic cells simultaneously expressing these genes, in agreement with a stochastic 2-state burst-like model of transcription. These results, confirmed in a further analysis of 8740 single fibroblasts with shallow scRNAseq, suggest that the specific transcriptional profile of each gene contributes to the phenotypic variability of trisomies. We propose an improved model to understand the effects of CNA and, generally, of gene regulation on gene dosage imbalance.
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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.