ArticleThe EMBO journal2020
Human chromosome-specific aneuploidy is influenced by DNA-dependent centromeric features.
Article in The EMBO journal, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers.
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Who cites it
86 citing papers in PubMed, 128 citations in OpenAlex.
- Declining centromere strength compromises meiotic chromosome segregation in aging oocytes.The Journal of cell biology · 2026Article
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026Article
- Complete chromosome 21 centromere sequencing of families with Down syndrome.American journal of human genetics · 2026Article
- Centromeric tandem repeats expansions in plateau zokor enhance chromosome stability for high-altitude adaptation.Genome biology · 2026Article
- Loss of chromosome Y in hematopoietic cells: mechanisms and implications for human disease.MedScience · 2026Review
- A genomic and epigenomic view of human centromeres.Nature reviews. Genetics · 2026Review
- Haplotype-resolved centromeric chromatin organization from a complete diploid human genome.bioRxiv : the preprint server for biology · 2026Article
- Polar chromosomes are rescued from missegregation by spindle elongation-driven microtubule pivoting.Nature communications · 2026Article
- Impact of inactivated SARS-CoV-2 vaccination on blastocyst euploidy status: a prospective cohort study of patients undergoing preimplantation genetic testing for aneuploidy in China.BMC pregnancy and childbirth · 2026Observational
- Bayesian data driven modelling of kinetochore dynamics: Space-time organisation of the human metaphase plate.PLoS computational biology · 2026Article
- Missegregation of Chromosome 3 and Generation of Monosomy 3 in the Proliferating Uveal Melanoma Cells Under Hyperglycemia.Investigative ophthalmology & visual science · 2025Article
- Cell line-matched reference enables high-precision functional genomics.Nature communications · 2025Article
- The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes.Annual review of genomics and human genetics · 2025Review
- Complete chromosome 21 centromere sequencing of families with Down syndrome reveals centromere size asymmetry.bioRxiv : the preprint server for biology · 2025Article
- CENP-A and centromere evolution in equids.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Review
- Chromatin-associated α-satellite RNA maintains chromosome stability by reestablishing SAF-A in the mitotic cell cycle.Nucleic acids research · 2025Article
- Conservation of dichromatin organization along regional centromeres.Cell genomics · 2025Article
- Chromosomal Instability and Clonal Heterogeneity in Breast Cancer: From Mechanisms to Clinical Applications.Cancers · 2025Review
- Review
- CENP-A/CENP-B uncoupling in the evolutionary reshuffling of centromeres in equids.Genome biology · 2025Article
26 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 6 institutions in 4 countries.
Funding
Abstract
Intrinsic genomic features of individual chromosomes can contribute to chromosome-specific aneuploidy. Centromeres are key elements for the maintenance of chromosome segregation fidelity via a specialized chromatin marked by CENP-A wrapped by repetitive DNA. These long stretches of repetitive DNA vary in length among human chromosomes. Using CENP-A genetic inactivation in human cells, we directly interrogate if differences in the centromere length reflect the heterogeneity of centromeric DNA-dependent features and whether this, in turn, affects the genesis of chromosome-specific aneuploidy. Using three distinct approaches, we show that mis-segregation rates vary among different chromosomes under conditions that compromise centromere function. Whole-genome sequencing and centromere mapping combined with cytogenetic analysis, small molecule inhibitors, and genetic manipulation revealed that inter-chromosomal heterogeneity of centromeric features, but not centromere length, influences chromosome segregation fidelity. We conclude that faithful chromosome segregation for most of human chromosomes is biased in favor of centromeres with high abundance of DNA-dependent centromeric components. These inter-chromosomal differences in centromere features can translate into non-random aneuploidy, a hallmark of cancer and genetic diseases.
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Registered trials
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.