ArticleGenome research2017
Rapid molecular assays to study human centromere genomics.
Article in Genome research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 34 citations in OpenAlex.
- α-Satellite RNA maintains centromeric cohesion through R-loops.Molecular cell · 2026Article
- Complete chromosome 21 centromere sequencing of families with Down syndrome.American journal of human genetics · 2026Article
- Metabolic pathway signatures define prognostic subtypes of lung adenocarcinoma.Discover oncology · 2026Article
- Centromeric α-satellite DNA is a hotspot of genotoxic damage, incomplete repair, and cytoplasmic mislocalization.bioRxiv : the preprint server for biology · 2026Article
- Article
- Centromere Instability Drives Chromosome Damage and Autoantigen Exposure in Systemic Sclerosis.bioRxiv : the preprint server for biology · 2025Article
- Complete chromosome 21 centromere sequencing of families with Down syndrome reveals centromere size asymmetry.bioRxiv : the preprint server for biology · 2025Article
- Nuclear localization of MTHFD2 is required for correct mitosis progression.Nature communications · 2024Article
- Topoisomerase I is an evolutionarily conserved key regulator for satellite DNA transcription.Nature communications · 2024Article
- Topoisomerase I is an Evolutionarily Conserved Key Regulator for Satellite DNA Transcription.bioRxiv : the preprint server for biology · 2024Article
- Mycoplasma DnaK expression increases cancer development in vivo upon DNA damage.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Nuclear SRP9/SRP14 heterodimer transcriptionally regulates 7SL and BC200 RNA expression.RNA (New York, N.Y.) · 2023Article
- The HIPK2/CDC14B-MeCP2 axis enhances the spindle assembly checkpoint block by promoting cyclin B translation.Science advances · 2023Article
- Centromere defects, chromosome instability, and cGAS-STING activation in systemic sclerosis.Nature communications · 2022Article
- A point mutation in HIV-1 integrase redirects proviral integration into centromeric repeats.Nature communications · 2022Article
- PCR amplicons identify widespread copy number variation in human centromeric arrays and instability in cancer.Cell genomics · 2021Article
- BRCA1 prevents R-loop-associated centromeric instability.Cell death & disease · 2021Article
- Isolation and characterization of fetal nucleated red blood cells from maternal blood as a target for single cell sequencing-based non-invasive genetic testing.Reproductive medicine and biology · 2021Article
- A genetic memory initiates the epigenetic loop necessary to preserve centromere position.The EMBO journal · 2020Article
- The role of the histone H3 variant CENPA in prostate cancer.The Journal of biological chemistry · 2020Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 3 countries.
Funding
Abstract
The centromere is the structural unit responsible for the faithful segregation of chromosomes. Although regulation of centromeric function by epigenetic factors has been well-studied, the contributions of the underlying DNA sequences have been much less well defined, and existing methodologies for studying centromere genomics in biology are laborious. We have identified specific markers in the centromere of 23 of the 24 human chromosomes that allow for rapid PCR assays capable of capturing the genomic landscape of human centromeres at a given time. Use of this genetic strategy can also delineate which specific centromere arrays in each chromosome drive the recruitment of epigenetic modulators. We further show that, surprisingly, loss and rearrangement of DNA in centromere 21 is associated with trisomy 21. This new approach can thus be used to rapidly take a snapshot of the genetics and epigenetics of each specific human centromere in nondisjunction disorders and other biological settings.
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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.