Intragenic tandem repeats generate functional variability
Open accessAbstract
Tandemly repeated DNA sequences are highly dynamic components of genomes. Most repeats are in intergenic regions, but some are in coding sequences or pseudogenes. In humans, expansion of intragenic triplet repeats is associated with various diseases, including Huntington chorea and fragile X syndrome. The persistence of intragenic repeats in genomes suggests that there is a compensating benefit. Here we show that in the genome of Saccharomyces cerevisiae, most genes containing intragenic repeats encode cell-wall proteins. The repeats trigger frequent recombination events in the gene or between the gene and a pseudogene, causing expansion and contraction in the gene size. This size variation creates quantitative alterations in phenotypes (e.g., adhesion, flocculation or biofilm formation). We propose that variation in intragenic repeat number provides the functional diversity of cell surface antigens that, in fungi and other pathogens, allows rapid adaptation to the environment and elusion of the host immune system.
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Variation in intragenic repeat number modulates phenotypic diversity in adhesion and biofilm formation.
“Variation in intragenic repeat number modulates phenotypic diversity in adhesion and biofilm formation (Verstrepen et al., 2005).”
From The evolution of drug resistance in clinical isolates of Candida albicans. (2015) · cites this paper as Verstrepen et al., 2005
In S. cerevisiae, tandem repeats are enriched within cell surface genes, which could enable alteration of antigenic diversity during pathogenic interactions.
“For example, in S. cerevisiae, tandem repeats are enriched within cell surface genes, which could enable alteration of antigenic diversity during pathogenic interactions (Verstrepen et al., 2005).”
From Natural mismatch repair mutations mediate phenotypic diversity and drug resistance in Cryptococcus deuterogattii (2017) · cites this paper as Verstrepen et al., 2005
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- Authors
- Verstrepen, K. J., Jansen, A., Lewitter, F., & Fink, G. R.
- Affiliations
- Whitehead Institute for Biomedical Research (US)
- Corresponding author
- Fink, Gerald R
- Venue
- Nature Genetics
- Published
- 2005-08-07
- Volume
- 37
- Issue
- 9
- Pages
- 986-990
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC1462868
- OpenAlex
- W2168475193
- Cited by
- 616
- References
- 31
- Citations by year
- 2026: 15 · 2025: 13 · 2024: 17 · 2023: 20 · 2022: 20 · 2021: 21 · 2020: 22 · 2019: 32 · 2018: 31 · 2017: 26 · 2016: 22 · 2015: 25 · 2014: 45 · 2013: 49 · 2012: 47
- FWCI
- 13.22
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Lirias (submittedVersion, other-oa)
- Funders
- Belgian American Educational Foundation
- Vlaamse regering
- National Institutes of Health
- National Institute of General Medical Sciences (R01GM035010)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Fungal and yeast genetics research
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- Saccharomyces cerevisiae, cell wall proteins, pseudogenes, recombination, adhesion, flocculation, biofilm formation, cell surface antigens, functional diversity, genome dynamics
- MeSH terms
- Antigens, Surface, Genes, Fungal, Molecular Sequence Data, Phenotype, Recombination, Genetic, Saccharomyces cerevisiae, Genetic Variation, Genome, Fungal, Tandem Repeat Sequences
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