ArticleGenome biology2018
Chromatin loop anchors are associated with genome instability in cancer and recombination hotspots in the germline.
Article in Genome biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 57 citations in OpenAlex.
- Folding a broken genome: the versatile roles of cohesin in genome maintenance.Nature reviews. Genetics · 2026Review
- Pan-3D Genome Analysis Reveals the Roles of Structural Variation in Chicken Chromatin Architectures, Domestication and Production Traits.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Conserved 3D genome reorganization during DNA repair.Life science alliance · 2026Review
- CLAMP: predicting specific protein-mediated chromatin loops in diverse species with a chromatin accessibility language model.Genome biology · 2026Article
- CTCF-anchored chromatin loop dynamics during human meiosis.BMC biology · 2025Article
- Fast and accurate quantification of double-strand breaks in microsatellites by digital PCR.Biology methods & protocols · 2025Article
- PeculiarGenes · 2024Article
- Crossing epigenetic frontiers: the intersection of novel histone modifications and diseases.Signal transduction and targeted therapy · 2024Review
- Dynamic alternations of three-dimensional chromatin architecture contribute to phenotypic characteristics of breast muscle in chicken.Communications biology · 2024Article
- Mutation rate heterogeneity at the sub-gene scale due to local DNA hypomethylation.Nucleic acids research · 2024Article
- Cancer testis antigens: Emerging therapeutic targets leveraging genomic instability in cancer.Molecular therapy. Oncology · 2024Review
- Cancer Associated PRDM9: Implications for Linking Genomic Instability and Meiotic Recombination.International journal of molecular sciences · 2023Article
- DEtail-seq is an ultra-efficient and convenient method for meiotic DNA break profiling in multiple organisms.Science China. Life sciences · 2023Article
- Histone post-translational modifications - cause and consequence of genome function.Nature reviews. Genetics · 2022Review
- Breaking the paradigm: early insights from mammalian DNA breakomes.The FEBS journal · 2022Review
- Placental methylome reveals a 22q13.33 brain regulatory gene locus associated with autism.Genome biology · 2022Article
- CTCF: A misguided jack-of-all-trades in cancer cells.Computational and structural biotechnology journal · 2022Review
- Meiotic Genes and DNA Double Strand Break Repair in Cancer.Frontiers in genetics · 2022Review
- Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.Genome research · 2021Article
- Meiosis and beyond - understanding the mechanistic and evolutionary processes shaping the germline genome.Biological reviews of the Cambridge Philosophical Society · 2021Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
backgroundChromatin loops form a basic unit of interphase nuclear organization, with chromatin loop anchor points providing contacts between regulatory regions and promoters. However, the mutational landscape at these anchor points remains under-studied. Here, we describe the unusual patterns of somatic mutations and germline variation associated with loop anchor points and explore the underlying features influencing these patterns.
resultsAnalyses of whole genome sequencing datasets reveal that anchor points are strongly depleted for single nucleotide variants (SNVs) in tumours. Despite low SNV rates in their genomic neighbourhood, anchor points emerge as sites of evolutionary innovation, showing enrichment for structural variant (SV) breakpoints and a peak of SNVs at focal CTCF sites within the anchor points. Both CTCF-bound and non-CTCF anchor points harbour an excess of SV breakpoints in multiple tumour types and are prone to double-strand breaks in cell lines. Common fragile sites, which are hotspots for genome instability, also show elevated numbers of intersecting loop anchor points. Recurrently disrupted anchor points are enriched for genes with functions in cell cycle transitions and regions associated with predisposition to cancer. We also discover a novel class of CTCF-bound anchor points which overlap meiotic recombination hotspots and are enriched for the core PRDM9 binding motif, suggesting that the anchor points have been foci for diversity generated during recent human evolution.
conclusionsWe suggest that the unusual chromatin environment at loop anchor points underlies the elevated rates of variation observed, marking them as sites of regulatory importance but also genomic fragility.
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