Gene Copy-Number Alterations: A Cost-Benefit Analysis
Open accessAbstract
Changes in DNA copy number, whether confined to specific genes or affecting whole chromosomes, have been identified as causes of diseases and developmental abnormalities and as sources of adaptive potential. Here, we discuss the costs and benefits of DNA copy-number alterations. Changes in DNA copy number are largely detrimental. Amplifications or deletions of specific genes can elicit discrete defects. Large-scale changes in DNA copy number can also cause detrimental phenotypes that are due to the cumulative effects of copy-number alterations of many genes simultaneously. On the other hand, studies in microorganisms show that DNA copy-number alterations can be beneficial, increasing survival under selective pressure. As DNA copy-number alterations underlie many human diseases, we will end with a discussion of gene copy-number changes as therapeutic targets.
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- Authors
- Tang, Y.-C., & Amon, A.
- Affiliations
- Howard Hughes Medical Institute (US)
- Corresponding author
- Amon, Angelika
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2013-01
- Volume
- 152
- Issue
- 3
- Pages
- 394-405
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC3641674
- OpenAlex
- W2011172223
- Cited by
- 348
- References
- 119
- Citations by year
- 2026: 14 · 2025: 15 · 2024: 22 · 2023: 36 · 2022: 17 · 2021: 27 · 2020: 34 · 2019: 25 · 2018: 35 · 2017: 25 · 2016: 24 · 2015: 33 · 2014: 25 · 2013: 15
- FWCI
- 3.97
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc-nd)
- PMC
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health
- National Institute of General Medical Sciences (R01GM056800, GM 56800, R29GM056800)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- copy number alterations, gene amplification, gene deletion, chromosomal instability, adaptive evolution, microorganisms, developmental abnormalities, therapeutic target
- MeSH terms
- Aneuploidy, Animals, Humans, Neoplasms, Plants, Polyploidy, Yeasts, Gene Expression, Gene Dosage, Genetic Fitness, DNA Copy Number Variations
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