Genome rearrangements in mammalian evolution: lessons from human and mouse genomes
Open accessAbstract
Although analysis of genome rearrangements was pioneered by Dobzhansky and Sturtevant 65 years ago, we still know very little about the rearrangement events that produced the existing varieties of genomic architectures. The genomic sequences of human and mouse provide evidence for a larger number of rearrangements than previously thought and shed some light on previously unknown features of mammalian evolution. In particular, they reveal that a large number of microrearrangements is required to explain the differences in draft human and mouse sequences. Here we describe a new algorithm for constructing synteny blocks, study arrangements of synteny blocks in human and mouse, derive a most parsimonious human–mouse rearrangement scenario, and provide evidence that intrachromosomal rearrangements are more frequent than interchromosomal rearrangements. Our analysis is based on the human–mouse breakpoint graph, which reveals related breakpoints and allows one to find a most parsimonious scenario. Because these graphs provide important insights into rearrangement scenarios, we introduce a new visualization tool that allows one to view breakpoint graphs superimposed with genomic dot-plots. [Supplemental material is available online at www.genome.org.]
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FWM can be seen to a lesser extent over more recently diverged genomes if they evolve relatively slowly, such as the similar-yet-rearranged karyotypes of human and mouse.
“FWM can be seen to a lesser extent over more recently diverged genomes if they evolve relatively slowly, such as the similar-yet-rearranged karyotypes of human and mouse (70).”
From Topological Approaches in Animal Comparative Genomics (2026) · cites this paper as [70]
The Synteny Blocks section reports that human and mouse share 281 synteny blocks but have undergone at least 245 rearrangements, supporting the similar-yet-rearranged comparison. Our copy does not discuss FWM or show that it is visible in these genomes; the Genome Rearrangements section also cautions that rodents may have unusually rapid chromosome alterations, rather than establishing the claimed slow evolution. (LLM, conf=0.86)
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Initial sequencing and comparative analysis of the mouse genome
Mouse Genome Sequencing Consortium (2002) · Nature · doi:10.1038/nature01262 · Cited by 7,187 · see citing works
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Krasheninnikova, K., Diekhans, M., Armstrong, J., Dievskii, A., Paten, B., & O'Brien, S. (2020) · GigaScience · doi:10.1093/gigascience/giaa047 · Cited by 30 · see citing works
Topological Approaches in Animal Comparative Genomics
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- Authors
- Pevzner, P., & Tesler, G.
- Affiliations
- University of California San Diego (US)
- ORCID
- Pevzner, Pavel
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2002-12-30
- Volume
- 13
- Issue
- 1
- Pages
- 37-45
- ISSN
- 1088-9051 (ISSN-L)
- 1549-5469
- PMC
- PMC430962
- OpenAlex
- W7098492624
- Cited by
- 369
- References
- 1
- Citations by year
- 2026: 7 · 2025: 5 · 2024: 5 · 2023: 22 · 2022: 10 · 2021: 7 · 2020: 12 · 2019: 7 · 2018: 13 · 2017: 6 · 2016: 12 · 2015: 7 · 2014: 6 · 2013: 6 · 2012: 14
- Type
- posted content
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genome Research (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- genome rearrangement, mammalian evolution, synteny blocks, breakpoint graph, intrachromosomal rearrangements, interchromosomal rearrangements
- MeSH terms
- Algorithms, Animals, Chromosomes, Chromosomes, Human, Humans, Mammals, Gene Rearrangement, Genome, Human, Genome, Computational Biology, Synteny, Mice
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