ArticleProceedings of the National Academy of Sciences of the United States of America2015
Pericentromeric satellite repeat expansions through RNA-derived DNA intermediates in cancer.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers, 1 of them a synthesis that pooled it.
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Who cites it
113 citing papers in PubMed, 1 synthesis or guideline pooled it, 187 citations in OpenAlex.
- Disrupting Mechanisms that Regulate Genomic Repeat Elements to Combat Cancer and Drug Resistance.Frontiers in cell and developmental biology · 2022Pooled it
- Satellite DNAs in Drosophila koepferae (repleta group) reveal patterns of origin, chromosomal organization, transcription, and turnover in the buzzatii cluster.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2026Article
- Extracellular Alpha-Satellite DNA in Human Plasma as a Candidate Biomarker for Bladder Cancer Detection: Preliminary Evidence Using Digital PCR.International journal of molecular sciences · 2026Article
- Reciprocal constraint couples architectural protein abundance and pericentromeric satellite expansion.bioRxiv : the preprint server for biology · 2026Article
- Quantification of the Human Satellite 2 (HSAT2) Repeat in the Plasma Cell-Free DNA of Patients with Colon Cancer.Current issues in molecular biology · 2026Article
- Rewiring cancer epigenome: lncRNA as modulator of chromatin architecture and neoplastic transformation.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- The isoflavone genistein selectively stimulates major satellite repeat transcription in mouse heterochromatin.Epigenetics & chromatin · 2025Article
- Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype.Annual review of genomics and human genetics · 2025Review
- Forced expression of MSR repeat transcripts above a threshold limit breaks heterochromatin organisation.Nature communications · 2025Article
- Identification of FLYWCH1 as a regulator of platinum-resistance in epithelial ovarian cancer.NAR cancer · 2025Article
- Modeling the Copy Number of HSATII Repeats in Human Pericentromere.International journal of molecular sciences · 2025Article
- LINE-1 ORF1p Mimics Viral Innate Immune Evasion Mechanisms in Pancreatic Ductal Adenocarcinoma.Cancer discovery · 2025Article
- Complex determinants of R-loop formation at transposable elements and major DNA satellites.Genetics · 2025Article
- Variation in the Content of Three Tandem Repeats of the Human Genome (Ribosomal, Satellite III, and Telomere) in Peripheral Blood Leukocyte DNA of People of Different Ages (5-101 Years).Journal of aging research · 2025Article
- Article
- Locus-specific differential expression of human satellite sequences in the nuclei of cancer cells and heat-shocked cells.Nucleus (Austin, Tex.) · 2024Article
- Long-read genome assembly of the insect model organismGenome research · 2024Article
- Mathematical model for the role of multiple pericentromeric repeats on heterochromatin assembly.PLoS computational biology · 2024Article
- Oncogenic ETS fusions promote DNA damage and proinflammatory responses via pericentromeric RNAs in extracellular vesicles.The Journal of clinical investigation · 2024Article
- Targeted Sequencing of Human Satellite 2 Repeat Sequences in Plasma cfDNA Reveals Potential Breast Cancer Biomarkers.Diagnostics (Basel, Switzerland) · 2024Article
53 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 5 institutions in 2 countries.
Funding
Abstract
Aberrant transcription of the pericentromeric human satellite II (HSATII) repeat is present in a wide variety of epithelial cancers. In deriving experimental systems to study its deregulation, we observed that HSATII expression is induced in colon cancer cells cultured as xenografts or under nonadherent conditions in vitro, but it is rapidly lost in standard 2D cultures. Unexpectedly, physiological induction of endogenous HSATII RNA, as well as introduction of synthetic HSATII transcripts, generated cDNA intermediates in the form of DNA/RNA hybrids. Single molecule sequencing of tumor xenografts showed that HSATII RNA-derived DNA (rdDNA) molecules are stably incorporated within pericentromeric loci. Suppression of RT activity using small molecule inhibitors reduced HSATII copy gain. Analysis of whole-genome sequencing data revealed that HSATII copy number gain is a common feature in primary human colon tumors and is associated with a lower overall survival. Together, our observations suggest that cancer-associated derepression of specific repetitive sequences can promote their RNA-driven genomic expansion, with potential implications on pericentromeric architecture.
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