Variable tandem repeats accelerate evolution of coding and regulatory sequences
Open accessAbstract
Genotype-to-phenotype mapping commonly focuses on two major classes of mutations: single nucleotide polymorphisms (SNPs) and copy number variation (CNV). Here, we discuss an underestimated third class of genotypic variation: changes in microsatellite and minisatellite repeats. Such tandem repeats (TRs) are ubiquitous, unstable genomic elements that have historically been designated as nonfunctional "junk DNA" and are therefore mostly ignored in comparative genomics. However, as many as 10% to 20% of eukaryotic genes and promoters contain an unstable repeat tract. Mutations in these repeats often have fascinating phenotypic consequences. For example, changes in unstable repeats located in or near human genes can lead to neurodegenerative diseases such as Huntington disease. Apart from their role in disease, variable repeats also confer useful phenotypic variability, including cell surface variability, plasticity in skeletal morphology, and tuning of the circadian rhythm. As such, TRs combine characteristics of genetic and epigenetic changes that may facilitate organismal evolvability.
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This functional diversity of cell surface antigens has been proposed to allow rapid adaptation to the environment as well as evasion of the host immune system in fungi and other pathogens.
“This functional diversity of cell surface antigens has been proposed to allow rapid adaptation to the environment as well as evasion of the host immune system in fungi and other pathogens (Gemayel et al., 2010).”
From The evolution of drug resistance in clinical isolates of Candida albicans. (2015) · cites this paper as Gemayel et al., 2010
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- Authors
- Gemayel, R., Vinces, M. D., Legendre, M., & Verstrepen, K. J.
- Affiliations
- Vlaams Instituut voor Biotechnologie (BE)
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Gemayel, Rita
- Vinces, Marcelo D.
- Venue
- Annual Review of Genetics
- Publisher
- Annual Reviews
- Published
- 2010-12-01
- Volume
- 44
- Issue
- 1
- Pages
- 445-477
- ISSN
- 0066-4197 (ISSN-L)
- 1545-2948
- OpenAlex
- W2149459456
- Cited by
- 633
- References
- 152
- Citations by year
- 2026: 24 · 2025: 35 · 2024: 39 · 2023: 36 · 2022: 35 · 2021: 40 · 2020: 37 · 2019: 40 · 2018: 45 · 2017: 31 · 2016: 48 · 2015: 54 · 2014: 54 · 2013: 48 · 2012: 45
- FWCI
- 3.54
- Type
- journal article
- Language
- en
- Open access
- green
- lirias.kuleuven.be
- Licence
- other-oa
- Locations
- Annual Review of Genetics (publishedVersion)
- PubMed (publishedVersion)
- Lirias (KU Leuven) (submittedVersion, other-oa)
- Funders
- Fonds Wetenschappelijk Onderzoek
- National Institutes of Health
- National Institute of General Medical Sciences (P50GM068763)
- Topics
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- microsatellite markers, minisatellites, repeat instability, genotype-phenotype mapping, copy number variation, single nucleotide polymorphisms, regulatory sequence evolution, epigenetic variation, neurodegenerative diseases, Huntington's disease, circadian rhythm, evolvability, junk DNA
- MeSH terms
- Animals, Humans, Regulatory Sequences, Nucleic Acid, Minisatellite Repeats, Microsatellite Repeats, Evolution, Molecular, Neurodegenerative Diseases
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