Cited by 324Genetic and phenotypic traits in livestockForensic and Genetic ResearchVeterinary Equine Medical Research

Prehistoric genomes reveal the genetic foundation and cost of horse domestication

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Schubert, Mikkel, Jónsson, Hákon, Chang, Dan, Der Sarkissian, Clio, Ermini, Luca, Ginolhac, Aurélien, Albrechtsen, Anders, Dupanloup, Isabelle +27 more·2014·Proceedings of the National Academy of Sciences

Abstract

The domestication of the horse ∼ 5.5 kya and the emergence of mounted riding, chariotry, and cavalry dramatically transformed human civilization. However, the genetics underlying horse domestication are difficult to reconstruct, given the near extinction of wild horses. We therefore sequenced two ancient horse genomes from Taymyr, Russia (at 7.4- and 24.3-fold coverage), both predating the earliest archeological evidence of domestication. We compared these genomes with genomes of domesticated horses and the wild Przewalski's horse and found genetic structure within Eurasia in the Late Pleistocene, with the ancient population contributing significantly to the genetic variation of domesticated breeds. We furthermore identified a conservative set of 125 potential domestication targets using four complementary scans for genes that have undergone positive selection. One group of genes is involved in muscular and limb development, articular junctions, and the cardiac system, and may represent physiological adaptations to human utilization. A second group consists of genes with cognitive functions, including social behavior, learning capabilities, fear response, and agreeableness, which may have been key for taming horses. We also found that domestication is associated with inbreeding and an excess of deleterious mutations. This genetic load is in line with the "cost of domestication" hypothesis also reported for rice, tomatoes, and dogs, and it is generally attributed to the relaxation of purifying selection resulting from the strong demographic bottlenecks accompanying domestication. Our work demonstrates the power of ancient genomes to reconstruct the complex genetic changes that transformed wild animals into their domesticated forms, and the population context in which this process took place.

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  • KIT is involved in melanocyte differentiation, and evidence points to its importance in selection for coat color, with signals on KIT in Clydesdale horses and Birman cats implicated in their breed-specific coat patterns.

    “This gene is involved in melanocyte differentiation, and evidence points to its importance in selection for coat color: Signals occurring on KIT in Clydesdale horses and Birman cats have been implicated in their breed-specific coat patterns (Schubert et al., 2014;Montague et al., 2014).”

    From Glutamate receptors in domestication and modern human evolution (2020) · cites this paper as Schubert et al., 2014

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Authors
Schubert, M., Jónsson, H., Chang, D., Der Sarkissian, C., Ermini, L., Ginolhac, A., Albrechtsen, A., Dupanloup, I., Foucal, A., Petersen, B., Fumagalli, M., Raghavan, M., Seguin-Orlando, A., Korneliussen, T. S., Velazquez, A. M. V., Stenderup, J., Hoover, C. A., Rubin, C.-J., Alfarhan, A. H., Alquraishi, S. A., Al-Rasheid, K. A. S., MacHugh, D. E., Kalbfleisch, T., MacLeod, J. N., Rubin, E. M., Sicheritz-Ponten, T., Andersson, L., Hofreiter, M., Marques-Bonet, T., Gilbert, M. T. P., Nielsen, R., Excoffier, L., Willerslev, E., Shapiro, B., & Orlando, L.
Affiliations
  • University of Copenhagen (DK)
  • University of California, Santa Cruz (US)
  • Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, 1350K Copenhagen, Denmark;
  • University of Bern (CH)
  • Technical University of Denmark (DK)
  • University College London (GB)
  • Joint Genome Institute (US)
  • Uppsala University (SE)
  • King Saud University (SA)
  • Zoology Department, College of Science, King Saud University, Riyadh 11451, Saudi Arabia;
  • University College Dublin (IE)
  • University of Louisville (US)
  • University of Kentucky (US)
  • Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, 2800 Lyngby, Denmark;
  • University of Potsdam (DE)
  • Instituticó Catalana de Recerca i Estudis Avançats, Institut de Biologia Evolutiva (Universitat Pompeu Fabra/Consejo Superior de Investigaciones Cientificas), 08003 Barcelona, Spain;
  • University of California, Berkeley (US)
Venue
Proceedings of the National Academy of Sciences
Published
2014-12-15
Volume
111
Issue
52
Pages
E5661-9
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
OpenAlex
W2033123297
Cited by
324
References
87
Citations by year
2026: 11 · 2025: 27 · 2024: 33 · 2023: 20 · 2022: 21 · 2021: 31 · 2020: 27 · 2019: 32 · 2018: 39 · 2017: 30 · 2016: 29 · 2015: 24
FWCI
18.12
Type
journal article
Language
en
Open access
Locations
  • Proceedings of the National Academy of Sciences (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • UKnowledge (University of Kentucky) (submittedVersion)
  • BORIS (University Library Bern) (submittedVersion)
  • DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion, cc-by-nc-nd)
  • eScholarship (California Digital Library) (submittedVersion)
  • publish.UP (University of Potsdam) (submittedVersion)
  • Open Repository and Bibliography (University of Luxembourg) (submittedVersion)
  • Unicam Scientific Publications (University of Camerino) (submittedVersion, other-oa)
  • Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
  • Technical University of Denmark, DTU Orbit (Technical University of Denmark, DTU) (submittedVersion)
  • Griffith Research Online (submittedVersion)
Funders
  • Villum Fonden (00007171)
  • Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (143393)
  • Lundbeckfonden (R109-2012-9995, R70-2010-6286, R155-2013-16338, R38-2008-3048, R24-2008-2527)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Health Sciences › Veterinary › Equine › Veterinary Equine Medical Research
Keywords
horse domestication, Przewalski's horse, positive selection, inbreeding, deleterious mutations, purifying selection, Taymyr
MeSH terms
Animals, Animals, Domestic, Cardiovascular System, Dogs, Hindlimb, Horses, Humans, Inbreeding, Russia, Genome, Evolution, Molecular

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