The biology of intron gain and loss
Abstract
Intron density in eukaryote genomes varies by more than three orders of magnitude, so there must have been extensive intron gain and/or intron loss during evolution. A favored and partial explanation for this range of intron densities has been that introns have accumulated stochastically in large eukaryote genomes during their evolution from an intron-poor ancestor. However, recent studies have shown that some eukaryotes lost many introns, whereas others accumulated and/or gained many introns. In this article, we discuss the growing evidence that these differences are subject to selection acting on introns depending on the biology of the organism and the gene involved.
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Intron lengths exhibit substantial biological variation and are less affected by annotation pipeline differences, as intron boundaries are defined by conserved splice sites.
“In contrast, intron lengths exhibit substantial biological variation and are less affected by annotation pipeline differences, as intron boundaries are defined by conserved splice sites (69, 95, 97, 98).”
From Convergent genome streamlining accompanies independent miniaturization in the world’s smallest fishes (2026) · cites this paper as [69]
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The highly reduced genome of an enslaved algal nucleus
Douglas, S., Zauner, S., Fraunholz, M., Beaton, M., Penny, S., Deng, L.-T., Wu, X., Reith, M., Cavalier-Smith, T., & Maier, U.-G. (2001) · Nature · doi:10.1038/35074092 · Cited by 454 · see citing works
Rogozin, I. B., Wolf, Y. I., Sorokin, A. V., Mirkin, B. G., & Koonin, E. V. (2003) · Current Biology · doi:10.1016/s0960-9822(03)00558-x · Cited by 445 · see citing works
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Sudasinghe, H., Matschiner, M., Britz, R., Conway, K. W., Tan, H. H., Salzburger, W., Peichel, C. L., & Rüber, L. (2026) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2614605123
- Authors
- Jeffares, D. C., Mourier, T., & Penny, D.
- Affiliations
- University of Copenhagen (DK)
- Allan Wilson Centre (NZ)
- Corresponding author
- Jeffares, Daniel C.
- ORCID
- Jeffares, Daniel C.
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2006-01
- Volume
- 22
- Issue
- 1
- Pages
- 16-22
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W2065548844
- Cited by
- 296
- References
- 2
- Citations by year
- 2026: 11 · 2025: 9 · 2024: 27 · 2023: 7 · 2022: 6 · 2021: 7 · 2020: 10 · 2019: 13 · 2018: 7 · 2017: 7 · 2016: 11 · 2015: 14 · 2014: 18 · 2013: 19 · 2012: 7
- FWCI
- 2.24
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Funders
- Wellcome Trust
- Topics
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- intron gain, intron loss, intron density, eukaryotic genomes, intron evolution, genome evolution
- MeSH terms
- Animals, Eukaryotic Cells, Biological Evolution, Humans, Introns, Models, Genetic, Selection, Genetic
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