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• W2950197902 abstract "Chromatin 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. Analyses 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. We 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." @default.
• W2950197902 created "2019-06-27" @default.
• W2950197902 creator A5034298865 @default.
• W2950197902 creator A5049412642 @default.
• W2950197902 date "2018-07-30" @default.
• W2950197902 modified "2023-10-14" @default.
• W2950197902 title "Chromatin loop anchors are associated with genome instability in cancer and recombination hotspots in the germline" @default.
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• W2950197902 doi "https://doi.org/10.1186/s13059-018-1483-4" @default.
• W2950197902 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6066925" @default.
• W2950197902 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30060743" @default.
• W2950197902 hasPublicationYear "2018" @default.
• W2950197902 type Work @default.
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