Cited by 466Chromosomal and Genetic VariationsGenome Rearrangement AlgorithmsEvolution and Paleontology Studies

Dynamics of genome size evolution in birds and mammals

Open access
Kapusta, Aurélie, Suh, Alexander, Feschotte, Cédric·2017·Proceedings of the National Academy of Sciences

Published version of a preprint

Abstract

Significance: Deciphering the forces and mechanisms modulating genome size is central to our understanding of molecular evolution, but the subject has been understudied in mammals and birds. We took advantage of the recent availability of genome sequences for a wide range of species to investigate the mechanism underlying genome size equilibrium over the past 100 million years. Our data provide evidence for an “accordion” model of genome size evolution in birds and mammals, whereby the amount of DNA gained by transposable element expansion, which greatly varies across lineages, was counteracted by DNA loss through large segmental deletions. Paradoxically, birds and bats have more compact genomes relative to their flightless relatives but exhibit more dynamic gain and loss of DNA.

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Crossref · 10.1073/pnas.1616702114

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  • Depletion of LTR elements and DNA transposons suggests either reduced transposition activity, increased elimination of newly inserted elements, or both, consistent with mechanisms proposed for genome compaction in other vertebrates with streamlined genomes.

    “Depletion of these elements suggests either reduced transposition activity, increased elimination of newly inserted elements, or both, consistent with mechanisms proposed for genome compaction in other vertebrates with streamlined genomes (31, 43, 53, 56).”

    From Convergent genome streamlining accompanies independent miniaturization in the world’s smallest fishes (2026) · cites this paper as [53]

    Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.

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  • Low-divergence copies of transposable elements represent more recent insertions, and highly diverged copies reflect older, inactive elements.

    “Low-divergence copies represent more recent insertions and highly diverged copies reflect older, inactive elements (53, 57, 61).”

    From Convergent genome streamlining accompanies independent miniaturization in the world’s smallest fishes (2026) · cites this paper as [53]

    In “Genome size evolution as the integration of gain and loss of DNA” (page unavailable), the paper says it infers TE insertion age from divergence from the family consensus sequence. “Determination of ancient versus lineage specific TEs” describes using each copy’s corrected divergence to distinguish older from lineage-specific TE-derived DNA. These passages support the age relationship, but do not establish that highly diverged copies are inactive. (LLM, conf=0.86)

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  • Both loaches/Psilorhynchidae and progenetic miniatures inhabit physiologically demanding environments, which has been linked to selection for smaller genomes through the relationship between cell size, nuclear DNA content, and metabolic rate.

    “Both groups therefore inhabit physiologically demanding environments, which has been linked to selection for smaller genomes through the relationship between cell size, nuclear DNA content, and metabolic rate (e.g., refs. 45, 47, and 51–53).”

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Cites

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Research works printed but not linked: 20

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  9. Ophir, R. and D. Graur, Patterns and rates of indel evolution in processed pseudogenes from humans and murids. Gene, 1997. 205(1-2): p. 191-202.
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  15. Clarke, A., P. Rothery, and N.J. Isaac, Scaling of basal metabolic rate with body mass and temperature in mammals. The Journal of animal ecology, 2010. 79(3): p. 610-9.
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Authors
Kapusta, A., Suh, A., & Feschotte, C.
Affiliations
  • University of Utah (US)
  • Uppsala University (SE)
Venue
Proceedings of the National Academy of Sciences
Published
2017-02-08
Volume
114
Issue
8
Pages
E1460-E1469
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
OpenAlex
W2587213787
Cited by
466
References
9
Citations by year
2026: 53 · 2025: 36 · 2024: 72 · 2023: 51 · 2022: 57 · 2021: 52 · 2020: 53 · 2019: 46 · 2018: 34 · 2017: 9 · 2016: 3
FWCI
36.17
Type
journal article
Language
en
Open access
Locations
  • Proceedings of the National Academy of Sciences (publishedVersion)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • UEA Digital Repository (University of East Anglia) (submittedVersion)
Funders
National Institutes of Health (R01GM077582)
Topics
  • Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
  • Physical Sciences › Earth and Planetary Sciences › Paleontology › Evolution and Paleontology Studies
Keywords
genome size evolution, transposable elements, DNA loss, segmental deletion, placental mammals, birds, bats, flightlessness, interspecific variation
MeSH terms
Animals, Birds, DNA, DNA Transposable Elements, Mammals, Phylogeny, Genome, Evolution, Molecular, Genomics, Genome Size

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