Redundancy, antiredundancy, and the robustness of genomes
Open accessAbstract
Genetic mutations that lead to undetectable or minimal changes in phenotypes are said to reveal redundant functions. Redundancy is common among phenotypes of higher organisms that experience low mutation rates and small population sizes. Redundancy is less common among organisms with high mutation rates and large populations, or among the rapidly dividing cells of multicellular organisms. In these cases, one even observes the opposite tendency: a hypersensitivity to mutation, which we refer to as antiredundancy. In this paper we analyze the evolutionary dynamics of redundancy and antiredundancy. Assuming a cost of redundancy, we find that large populations will evolve antiredundant mechanisms for removing mutants and thereby bolster the robustness of wild-type genomes; whereas small populations will evolve redundancy to ensure that all individuals have a high chance of survival. We propose that antiredundancy is as important for developmental robustness as redundancy, and is an essential mechanism for ensuring tissue-level stability in complex multicellular organisms. We suggest that antiredundancy deserves greater attention in relation to cancer, mitochondrial disease, and virus infection.
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Redundant mechanisms can mask the phenotypic effect of genetic and epigenetic changes.
“They also can mask the (phenotypic) effect of genetic and epigenetic changes (249).”
From Pathogenesis of endometriosis: The genetic/epigenetic theory (2019) · cites this paper as [249]
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- Authors
- Krakauer, D. C., & Plotkin, J. B.
- Affiliations
- Santa Fe Institute (US)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2002-01-29
- Volume
- 99
- Issue
- 3
- Pages
- 1405-1409
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC122203
- OpenAlex
- W1992973689
- Cited by
- 254
- References
- 55
- Citations by year
- 2026: 1 · 2025: 9 · 2024: 6 · 2023: 8 · 2022: 12 · 2021: 12 · 2020: 4 · 2019: 8 · 2018: 5 · 2017: 5 · 2016: 13 · 2015: 6 · 2014: 9 · 2013: 8 · 2012: 7
- FWCI
- 8.34
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Science Foundation
- Burroughs Wellcome Fund
- Alfred P. Sloan Foundation
- Ambrose Monell Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Social Sciences › Arts and Humanities › History and Philosophy of Science › Philosophy and History of Science
- Physical Sciences › Computer Science › Artificial Intelligence › Evolutionary Algorithms and Applications
- Keywords
- functional redundancy, mutation sensitivity, population size, developmental robustness, multicellular organisms, cancer, mitochondrial disease, viral infection, evolutionary dynamics
- MeSH terms
- Biological Evolution, Models, Genetic, Selection, Genetic, Genome
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