ArticleHuman molecular genetics2013
Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.Genome medicine · 2025Article
- HDAC3 Epigenetic Suppression by Electroacupuncture Restores AMPA Receptor Function and Synaptic Plasticity in Alzheimer's Disease Models.Neuromolecular medicine · 2025Article
- Mechanisms and genomic implications of break-induced replication.Nature structural & molecular biology · 2025Review
- S-phase checkpoint prevents leading strand degradation from strand-associated nicks at stalled replication forks.Nucleic acids research · 2024Article
- Article
- Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.Human genetics · 2018Article
- Mechanisms underlying structural variant formation in genomic disorders.Nature reviews. Genetics · 2016Review
- Polymerase δ replicates both strands after homologous recombination-dependent fork restart.Nature structural & molecular biology · 2015Article
- CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.Human molecular genetics · 2015Article
- Chromosome rearrangements via template switching between diverged repeated sequences.Genes & development · 2014Article
- Rearrangement structure-independent strategy of CNV breakpoint analysis.Molecular genetics and genomics : MGG · 2014Article
- Human molecular cytogenetics: From cells to nucleotides.Genetics and molecular biology · 2014Review
- 2012 highlights in translational 'omics.Genome medicine · 2013Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Copy number variations (CNVs) in the human genome contribute significantly to disease. De novo CNV mutations arise via genomic rearrangements, which can occur in 'trans', i.e. via interchromosomal events, or in 'cis', i.e. via intrachromosomal events. However, what molecular mechanisms occur between chromosomes versus between or within chromatids has not been systematically investigated. We hypothesized that distinct CNV mutational mechanisms, based on their intrinsic properties, may occur in a biased intrachromosomal versus interchromosomal manner. Here, we studied 62 genomic duplications observed in association with sporadic Potocki-Lupski syndrome (PTLS), in which multiple mutational mechanisms appear to be operative. Intriguingly, more interchromosomal than intrachromosomal events were identified in recurrent PTLS duplications mediated by non-allelic homologous recombination, whereas the reciprocal distribution was found for replicative mechanisms and non-homologous end-joining, likely reflecting the differences in spacial proximity of homologous chromosomes during different mutational processes.
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