Cited by 204Genetic diversity and population structureGenetic and phenotypic traits in livestockGenomics and Phylogenetic Studies

Genomic legacy of the African cheetah, Acinonyx jubatus

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Dobrynin, Pavel, Liu, Shiping, Tamazian, Gaik, Xiong, Zijun, Yurchenko, Andrey A., Krasheninnikova, Ksenia, Kliver, Sergey, Schmidt-Küntzel, Anne +27 more·2015·Genome Biology

Abstract

BACKGROUND: Patterns of genetic and genomic variance are informative in inferring population history for human, model species and endangered populations. RESULTS: Here the genome sequence of wild-born African cheetahs reveals extreme genomic depletion in SNV incidence, SNV density, SNVs of coding genes, MHC class I and II genes, and mitochondrial DNA SNVs. Cheetah genomes are on average 95 % homozygous compared to the genomes of the outbred domestic cat (24.08 % homozygous), Virunga Mountain Gorilla (78.12 %), inbred Abyssinian cat (62.63 %), Tasmanian devil, domestic dog and other mammalian species. Demographic estimators impute two ancestral population bottlenecks: one >100,000 years ago coincident with cheetah migrations out of the Americas and into Eurasia and Africa, and a second 11,084-12,589 years ago in Africa coincident with late Pleistocene large mammal extinctions. MHC class I gene loss and dramatic reduction in functional diversity of MHC genes would explain why cheetahs ablate skin graft rejection among unrelated individuals. Significant excess of non-synonymous mutations in AKAP4 (p<0.02), a gene mediating spermatozoon development, indicates cheetah fixation of five function-damaging amino acid variants distinct from AKAP4 homologues of other Felidae or mammals; AKAP4 dysfunction may cause the cheetah's extremely high (>80 %) pleiomorphic sperm. CONCLUSIONS: The study provides an unprecedented genomic perspective for the rare cheetah, with potential relevance to the species' natural history, physiological adaptations and unique reproductive disposition.

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Crossref · 10.1186/s13059-015-0837-4

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  • Muskox genetic diversity is lower than that of the Tasmanian devil and the cheetah.

    “Muskox genetic diversity is lower than two mammalian species under threat that have undergo recent genetic bottlenecks, the Tasmanian devil (Sarcophilus harrisii)66 and the cheetah (Acinonyx jubatus)67.”

    From Chromosomal-level reference genome assembly of muskox (Ovibos moschatus) from Banks Island in the Canadian Arctic, a resource for conservation genomics (2024) · cites this paper as [67]

    The Background and Results describe the cheetah’s severely reduced genetic diversity, and the Results identify past population bottlenecks. The paper does not compare cheetah diversity with muskox diversity, so it does not establish that muskox diversity is lower. The Tasmanian devil has a separate citation in the citing sentence. (LLM, conf=0.84)

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  • Progressive Cactus has been developed over several years and has already been successfully used as an integral component of high-profile comparative genomics projects.

    “Progressive Cactus has been developed over several years, and has already been successfully used as an integral component of high-profile comparative genomics projects16–20.”

    From Progressive Cactus is a multiple-genome aligner for the thousand-genome era (2020) · cites this paper as [17]

    The Results and Materials and methods (pages unavailable) report that Progressive Cactus was used to align the cheetah genome with other mammalian genomes, supporting its use in a comparative genomics project. This paper does not establish that the software was developed over several years or used in multiple projects. (LLM, conf=0.87)

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Authors
Dobrynin, P., Liu, S., Tamazian, G., Xiong, Z., Yurchenko, A. A., Krasheninnikova, K., Kliver, S., Schmidt-Küntzel, A., Koepfli, K.-P., Johnson, W., Kuderna, L. F. K., García-Pérez, R., Manuel, M. D., Godinez, R., Komissarov, A., Makunin, A., Brukhin, V., Qiu, W., Zhou, L., Li, F., Yi, J., Driscoll, C., Antunes, A., Oleksyk, T. K., Eizirik, E., Perelman, P., Roelke, M., Wildt, D., Diekhans, M., Marques-Bonet, T., Marker, L., Bhak, J., Wang, J., Zhang, G., & O’Brien, S. J.
Affiliations
  • St Petersburg University (RU)
  • Sun Yat-sen University (CN)
  • China National GeneBank (CN)
  • Smithsonian Conservation Biology Institute (US)
  • Consejo Superior de Investigaciones Científicas (ES)
  • Harvard University (US)
  • National Institutes of Health (US)
  • Universidade do Porto (PT)
  • Russian Academy of Sciences (RU)
  • Leidos Biomedical Research Inc. (United States) (US)
  • University of California, Santa Cruz (US)
  • Cheetah Conservation Fund (NA)
  • Ulsan National Institute of Science and Technology (KR)
  • BGI Group (China) (CN)
  • University of Copenhagen (DK)
Corresponding author
O’Brien, Stephen J.
Venue
Genome Biology
Published
2015-12
Volume
16
Issue
1
Pages
277-277
ISSN
  • 1465-6906 (ISSN-L)
  • 1474-760X
OpenAlex
W2196011667
Cited by
204
References
95
Citations by year
2026: 8 · 2025: 16 · 2024: 10 · 2023: 16 · 2022: 23 · 2021: 18 · 2020: 20 · 2019: 18 · 2018: 51 · 2017: 9 · 2016: 13
FWCI
16.63
Type
journal article
Language
en
Open access
Locations
  • Genome biology (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, other-oa)
  • Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by)
  • RECERCAT (Consorci de Serveis Universitaris de Catalunya) (publishedVersion, other-oa)
  • Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
  • NSUWorks (Nova Southeastern University) (submittedVersion, cc-by)
  • DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion, cc-by)
  • Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion, cc-by)
  • Scholarworks@UNIST (Ulsan National Institute of Science and Technology) (submittedVersion)
  • Figshare (cc-by)
Funders
  • Ministry of Environment
  • Institució Catalana de Recerca i Estudis Avançats
  • Saint Petersburg State University (1.50.1623.2013)
  • Ministerio de Ciencia e Innovación (BFU2014-55090-P)
  • Megagrants
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
Keywords
cheetah, inbreeding depression, homozygosity, population bottleneck, non-synonymous mutations, AKAP4, sperm abnormalities, skin graft rejection, Late Pleistocene extinction, demographic history
MeSH terms
Animals, Cats, Acinonyx, Dogs, Multigene Family, Male, Genetic Variation, Genome, Genomics

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