Mechanisms of change in gene copy number
Open accessAbstract
Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a major source of variation between individual humans and are an underlying factor in human evolution and in many diseases, including mental illness, developmental disorders and cancer. CNVs form at a faster rate than other types of mutation, and seem to do so by similar mechanisms in bacteria, yeast and humans. Here we review current models of the mechanisms that cause copy number variation. Non-homologous end-joining mechanisms are well known, but recent models focus on perturbation of DNA replication and replication of non-contiguous DNA segments. For example, cellular stress might induce repair of broken replication forks to switch from high-fidelity homologous recombination to non-homologous repair, thus promoting copy number change.
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Locus-specific studies suggest that diverse mechanisms form structural variants de novo, with some mechanisms involving complex rearrangements and multiple chromosomal breakpoints.
“locus-specific studies suggest that diverse mechanisms may form SVs de novo, with some mechanisms involving complex rearrangements resulting in multiple chromosomal breakpoints8,9.”
From Mapping copy number variation by population-scale genome sequencing (2011) · cites this paper as [8]
DNA rearrangement in the absence of homology, namely microhomology-mediated break-induced replication, has been implicated in recurrent structural-variant formation.
“DNA rearrangement in the absence of homology, i.e., MMBIR, has been implicated in recurrent SV formation8,45.”
From Mapping copy number variation by population-scale genome sequencing (2011) · cites this paper as [8]
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References 162 · Cited by 1,316
- Authors
- Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G.
- Affiliations
- Baylor College of Medicine (US)
- Corresponding author
- Hastings, P. J.
- Venue
- Nature Reviews Genetics
- Published
- 2009-08
- Volume
- 10
- Issue
- 8
- Pages
- 551-564
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- PMC
- PMC2864001
- OpenAlex
- W2034979835
- Cited by
- 1,316
- References
- 162
- Citations by year
- 2026: 49 · 2025: 60 · 2024: 62 · 2023: 73 · 2022: 63 · 2021: 78 · 2020: 76 · 2019: 67 · 2018: 61 · 2017: 73 · 2016: 85 · 2015: 90 · 2014: 96 · 2013: 96 · 2012: 85
- FWCI
- 8.93
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute (R01 CA85777, R01CA085777)
- National Institute of General Medical Sciences (R01 GM80600, R01GM53158, R01GM064022, R01GM053158, R01-GM64022, R01GM080600)
- National Institute of Neurological Disorders and Stroke (R01NS058529, R01 NS59529, R21NS059529)
- National Center for Research Resources (M01RR000188)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- copy number variation, non-homologous end joining, replication fork repair, chromosomal deletion, chromosomal duplication, DNA replication, homologous recombination, cellular stress, genome evolution, human disease
- MeSH terms
- Humans, Models, Genetic, Recombination, Genetic, Gene Dosage, Genome-Wide Association Study
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