ArticleCell genomics2021
PCR amplicons identify widespread copy number variation in human centromeric arrays and instability in cancer.
Article in Cell genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 26 citations in OpenAlex.
- Genomic Variability of the HCT116 Cell Line Identified Using Oxford Nanopore Sequencing.International journal of molecular sciences · 2026Article
- Methodological considerations for centromere copy number analyses in HER2-positive metastatic breast cancer.Oncogene · 2026Article
- Reciprocal constraint couples architectural protein abundance and pericentromeric satellite expansion.bioRxiv : the preprint server for biology · 2026Article
- Article
- Long read sequencing reveals novel genomic and epigenomic alterations in repetitive regions of high grade serous ovarian cancer.Scientific reports · 2025Article
- The dynamic centromere.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Review
- Article
- Expansion of human centromeric arrays in cells undergoing break-induced replication.Cell reports · 2024Article
- Genome-wide repeat landscapes in cancer and cell-free DNA.Science translational medicine · 2024Article
- Defining a core configuration for human centromeres during mitosis.Nature communications · 2023Article
- Expansion of human centromeric arrays in cells undergoing break-induced replication.bioRxiv : the preprint server for biology · 2023Article
- Telomere-to-telomere assembly of diploid chromosomes with Verkko.Nature biotechnology · 2023Article
- Defining a core configuration for human centromeres during mitosis.bioRxiv : the preprint server for biology · 2023Article
- Article
- Repurposing Dihydroartemisinin to Combat Oral Squamous Cell Carcinoma, Associated with Mitochondrial Dysfunction and Oxidative Stress.Oxidative medicine and cellular longevity · 2023Article
- Enrichment of centromeric DNA from human cells.PLoS genetics · 2022Article
- Satellite DNAs in Health and Disease.Genes · 2022Review
- In-Depth Satellitome Analyses of 37 Drosophila Species Illuminate Repetitive DNA Evolution in the Drosophila Genus.Genome biology and evolution · 2022Article
- Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
Centromeric α-satellite repeats represent ~6% of the human genome, but their length and repetitive nature make sequencing and analysis of those regions challenging. However, centromeres are essential for the stable propagation of chromosomes, so tools are urgently needed to monitor centromere copy number and how it influences chromosome transmission and genome stability. We developed and benchmarked droplet digital PCR (ddPCR) assays that measure copy number for five human centromeric arrays. We applied them to characterize natural variation in centromeric array size, analyzing normal tissue from 37 individuals from China and 39 individuals from the US and UK. Each chromosome-specific array varies in size up to 10-fold across individuals and up to 50-fold across chromosomes, indicating a unique complement of arrays in each individual. We also used the ddPCR assays to analyze centromere copy number in 76 matched tumor-normal samples across four cancer types, representing the most-comprehensive quantitative analysis of centromeric array stability in cancer to date. In contrast to stable transmission in cultured cells, centromeric arrays show gain and loss events in each of the cancer types, suggesting centromeric α-satellite DNA represents a new category of genome instability in cancer. Our methodology for measuring human centromeric-array copy number will advance research on centromeres and genome integrity in normal and disease states.
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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.