ArticleNature genetics2012
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 154 papers.
What it found
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Who cites it
154 citing papers in PubMed.
- Complex chromosomal rearrangements induce embryonic chromosomal imbalance and significantly compromise reproductive outcomes.Contraception and reproductive medicine · 2026Article
- Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion.Molecular cytogenetics · 2026Article
- Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.Scientific reports · 2025Article
- International Society for Prenatal Diagnosis 2024 Debate 3-Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies.Prenatal diagnosis · 2025Review
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Transgene Mapping in Animals: What to Choose?International journal of molecular sciences · 2025Review
- Chromothripsis.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Identification and Characterization of Chromothripsis by Optical Genome Mapping.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Chromosomal Instability and Chromoanagenesis as Forces for Genomic Evolution.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Genomic Detection and Delineation of Chromoanasynthesis by Mate-Pair Sequencing.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.American journal of human genetics · 2024Article
- Non-homologous end joining shapes the genomic rearrangement landscape of chromothripsis from mitotic errors.Nature communications · 2024Article
- Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?HGG advances · 2024Article
- Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.Molecular cytogenetics · 2024Article
- Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements.Nature reviews. Genetics · 2024Review
- Boveri and beyond: Chromothripsis and genomic instability from mitotic errors.Molecular cell · 2024Review
- Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.Frontiers in genetics · 2024Article
- Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization.Journal of assisted reproduction and genetics · 2024Article
- Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington's Disease.Journal of Huntington's disease · 2024Article
- 11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation.Molecular genetics & genomic medicine · 2023Article
94 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors.
Funding
Abstract
We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations and inversions. We confirm that the recently described phenomenon of 'chromothripsis' (massive chromosomal shattering and reorganization) is not unique to cancer cells but also occurs in the germline, where it can resolve to a relatively balanced state with frequent inversions. We detected a high incidence of complex rearrangements (19.2%) and substantially less reliance on microhomology (31%) than previously observed in benign copy-number variants (CNVs). We compared these results to experimentally generated DNA breakage-repair by sequencing seven transgenic animals, revealing extensive rearrangement of the transgene and host genome with similar complexity to human germline alterations. Inversion was the most common rearrangement, suggesting that a combined mechanism involving template switching and non-homologous repair mediates the formation of balanced complex rearrangements that are viable, stably replicated and transmitted unaltered to subsequent generations.
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