Sequence-based characterization of structural variation in the mouse genome
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Structural variation is widespread in mammalian genomes and is an important cause of disease, but just how abundant and important structural variants (SVs) are in shaping phenotypic variation remains unclear. Without knowing how many SVs there are, and how they arise, it is difficult to discover what they do. Combining experimental with automated analyses, we identified 711,920 SVs at 281,243 sites in the genomes of thirteen classical and four wild-derived inbred mouse strains. The majority of SVs are less than 1 kilobase in size and 98% are deletions or insertions. The breakpoints of 160,000 SVs were mapped to base pair resolution, allowing us to infer that insertion of retrotransposons causes more than half of SVs. Yet, despite their prevalence, SVs are less likely than other sequence variants to cause gene expression or quantitative phenotypic variation. We identified 24 SVs that disrupt coding exons, acting as rare variants of large effect on gene function. One-third of the genes so affected have immunological functions.
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Wild-derived mouse variants include over 5 million SNPs, 116 novel genes not present in B6, and between 250 and 400 large structural variants.
“These variants include over 5 million single nucleotide polymorphisms (SNPs; Onos et al., 2019), 116 novel genes not present in B6 (Lilue et al., 2018), and between 250 and 400 large structural variants (Yalcin et al., 2011).”
From Network analysis identifies strain-dependent response to tau and tau seeding-associated genes (2023) · cites this paper as Yalcin et al., 2011
The paper reports structural variants in four wild-derived inbred mouse strains, supporting that part of the cited clause. Its Abstract reports 0.71 million variants across all 17 strains, but our copy does not give a count of 250–400 large structural variants. The SNP and novel-gene figures have separate citations and are not assessed here. (LLM, conf=0.82)
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- Authors
- Yalcin, B., Wong, K., Agam, A., Goodson, M., Keane, T. M., Gan, X., Nellåker, C., Goodstadt, L., Nicod, J., Bhomra, A., Hernandez-Pliego, P., Whitley, H., Cleak, J., Dutton, R., Janowitz, D., Mott, R., Adams, D. J., & Flint, J.
- Affiliations
- Centre for Human Genetics (GB)
- Wellcome Sanger Institute (GB)
- University of Oxford (GB)
- Corresponding author
- Adams, David J.
- ORCID
- Venue
- Nature
- Published
- 2011-09
- Volume
- 477
- Issue
- 7364
- Pages
- 326-329
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3428933
- OpenAlex
- W1967973651
- Cited by
- 301
- References
- 31
- Citations by year
- 2026: 7 · 2025: 9 · 2024: 6 · 2023: 16 · 2022: 17 · 2021: 20 · 2020: 14 · 2019: 18 · 2018: 23 · 2017: 20 · 2016: 20 · 2015: 26 · 2014: 27 · 2013: 34 · 2012: 38
- FWCI
- 20.75
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Wellcome Trust (079912, 082356, 090532, 098051)
- Cancer Research UK (13031)
- Medical Research Council (MC_EX_G0802457)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- structural variants, mouse genome, inbred mouse strains, wild-derived mouse strains, retrotransposon insertion, indels, breakpoint mapping, phenotypic variability, gene expression variation, functional variants
- MeSH terms
- Animals, Exons, Female, Genotype, Male, Mice, Inbred Strains, Phenotype, Genetic Variation, Gene Expression, Mutagenesis, Insertional, Genome, Sequence Deletion, Retroelements, Genomics, Quantitative Trait Loci, Mice, Rats, Chromosome Breakpoints
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