ArticleGenome research2013
Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.
Article in Genome research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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Who cites it
66 citing papers in PubMed, 164 citations in OpenAlex.
- De novo unbalanced translocations have a complex history/aetiology.Human genetics · 2018Trial
- Structural Variation and Its Roles in Plant Genomes.Plants (Basel, Switzerland) · 2026Review
- Article
- Beyond inversions and deletions: the evolutionary and functional insights from translocations, fissions, and fusions in animal genomes.Heredity · 2026Review
- Impeding the NHEJ Pathway for Overcoming Radioresistance in the Context of Precision Radiotherapy of Cancer.Pharmaceutics · 2026Review
- Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis.Molecular cytogenetics · 2025Article
- How Structural Variations Influence Crop Improvement.International journal of molecular sciences · 2025Review
- Repeat competition and ecological shifts drive the evolution of the mobilome in Rhynchospora Vahl (Cyperaceae), the holocentric beaksedges.Annals of botany · 2025Article
- Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.Genome research · 2025Article
- Multisite long-read sequencing reveals the early contributions of somatic structural variations to HBV-related hepatocellular carcinoma tumorigenesis.Genome research · 2025Article
- Multi-ancestry GWAS reveals loci linked to human variation in LINE-1- and Alu-insertion numbers.bioRxiv : the preprint server for biology · 2025Article
- Multi-ancestry GWAS reveals loci linked to human variation in LINE-1- and Alu-insertion numbers.Translational medicine of aging · 2025Article
- A Concise Guide for the Characterization and Curation of Transposable Elements in Insect Genomes.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Review
- Causes and consequences of a complex recombinational landscape in the antGenome research · 2024Article
- Microsatellite break-induced replication generates highly mutagenized extrachromosomal circular DNAs.NAR cancer · 2024Article
- Plant genome evolution in the genusGenome research · 2024Article
- The promise and pitfalls of synteny in phylogenomics.PLoS biology · 2024Article
- Subtelomeric plasticity contributes to gene family expansion in the human parasitic flatworm Schistosoma mansoni.BMC genomics · 2024Article
- Exploring the role of polymorphic interspecies structural variants in reproductive isolation and adaptive divergence in Eucalyptus.GigaScience · 2024Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Large-scale analysis of balanced chromosomal translocation breakpoints has shown nonhomologous end joining and microhomology-mediated repair to be the main drivers of interchromosomal structural aberrations. Breakpoint sequences of de novo unbalanced translocations have not yet been investigated systematically. We analyzed 12 de novo unbalanced translocations and mapped the breakpoints in nine. Surprisingly, in contrast to balanced translocations, we identify nonallelic homologous recombination (NAHR) between (retro)transposable elements and especially long interspersed elements (LINEs) as the main mutational mechanism. This finding shows yet another involvement of (retro)transposons in genomic rearrangements and exposes a profoundly different mutational mechanism compared with balanced chromosomal translocations. Furthermore, we show the existence of compound maternal/paternal derivative chromosomes, reinforcing the hypothesis that human cleavage stage embryogenesis is a cradle of chromosomal rearrangements.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.