ArticleGenome research2022
Somatic structural variant formation is guided by and influences genome architecture.
Article in Genome research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Origins and consequences of oncogenic 3D chromatin remodelling.Nature reviews. Cancer · 2026Review
- Deep learning enabled prediction of nuclear lamina-associated chromatin.Patterns (New York, N.Y.) · 2026Article
- Genome evolution in parthenogenetic nematodes shaped by chromosome rearrangements and introgression.Genome research · 2026Article
- TONSOKU prevents the formation of large tandem duplications and restrains ATR-WEE1 checkpoint activation.Nature communications · 2026Article
- Structural variation drives enhancer hijacking via 3D genome disruption in ccRCC.NPJ digital medicine · 2026Article
- Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- Structural variants in the 3D genome as drivers of disease.Nature reviews. Genetics · 2025Review
- Geography, Ancestry, Age and Sex Shape Somatic Autosomal Mosaic Chromosomal Alterations in Blood.medRxiv : the preprint server for health sciences · 2025Article
- Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Molecular neurodegeneration · 2025Review
- Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.medRxiv : the preprint server for health sciences · 2025Article
- Characterization of the role of spatial proximity of DNA double-strand breaks in the formation of CRISPR-Cas9-induced large structural variations.Genome research · 2025Article
- Chromothripsis.Methods in molecular biology (Clifton, N.J.) · 2025Review
- DeCGR: an interactive toolkit for deciphering complex genomic rearrangements from Hi-C data.BMC genomics · 2024Article
- Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements.Cellular and molecular life sciences : CMLS · 2024Review
- Pervasive structural heterogeneity rewires glioblastoma chromosomes to sustain patient-specific transcriptional programs.Nature communications · 2024Article
- Subtelomeric 5-enolpyruvylshikimate-3-phosphate synthase copy number variation confers glyphosate resistance in Eleusine indica.Nature communications · 2023Article
- Chromosomal Rearrangements and Chromothripsis: The Alternative End Generation Model.International journal of molecular sciences · 2023Review
- Karyotype differentiation in theComparative cytogenetics · 2023Article
- Enhancers dysfunction in the 3D genome of cancer cells.Frontiers in cell and developmental biology · 2023Review
- Chromosome conformation capture technologies as tools to detect structural variations and their repercussion in chromatin 3D configuration.Frontiers in cell and developmental biology · 2023Review
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The occurrence and formation of genomic structural variants (SVs) is known to be influenced by the 3D chromatin architecture, but the extent and magnitude have been challenging to study. Here, we apply Hi-C to study chromatin organization before and after induction of chromothripsis in human cells. We use Hi-C to manually assemble the derivative chromosomes following the occurrence of massive complex rearrangements, which allows us to study the sources of SV formation and their consequences on gene regulation. We observe an action-reaction interplay whereby the 3D chromatin architecture directly impacts the location and formation of SVs. In turn, the SVs reshape the chromatin organization to alter the local topologies, replication timing, and gene regulation in
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