ArticleHuman molecular genetics2013
Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.
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 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
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- Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants.Genomics, proteomics & bioinformatics · 2022Article
- Medium levels of transcription and replication related chromosomal instability are associated with poor clinical outcome.Scientific reports · 2021Article
- Enhancer Hijacking Drives OncogenicCancer discovery · 2021Article
- Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder.Journal of molecular neuroscience : MN · 2019Article
- Genome annotation for clinical genomic diagnostics: strengths and weaknesses.Genome medicine · 2017Review
- Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.PLoS genetics · 2015Article
- Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.Journal of human genetics · 2015Article
- PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.BMC genomics · 2015Article
- CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.Human molecular genetics · 2015Article
- Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.PLoS genetics · 2015Article
- Genome architecture and its roles in human copy number variation.Genomics & informatics · 2014Review
- In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research.Molecular cytogenetics · 2014Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Environmental factors including ionizing radiation and chemical agents have been known to be able to induce DNA rearrangements and cause genomic structural variations (SVs); however, the roles of intrinsic characteristics of the human genome, such as regional genome architecture, in SV formation and the potential mechanisms underlying genomic instability remain to be further elucidated. Recently, locus-specific observations showed that 'self-chain' (SC), a group of short low-copy repeats (LCRs) in the human genome, can induce autism-associated SV mutations of the MECP2 and NRXN1 genes. In this study, we conducted a genome-wide analysis to investigate SCs and their potential roles in genomic SV formation. Utilizing a vast amount of human SV data, we observed a significant biased distribution of human germline SV breakpoints to SC regions. Notably, the breakpoint distribution pattern is different between SV types across deletion, duplication, inversion and insertion. Our observations were coincident with a mechanism of SC-induced DNA replicative errors, whereas SC may sporadically be used as substrates of nonallelic homologous recombination (NAHR). This contention was further supported by our consistent findings in somatic SV mutations of cancer genomes, suggesting a general mechanism of SC-induced genome instability in human germ and somatic cells.
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