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Animal genetics2019; 50(6); 569-597; doi: 10.1111/age.12857

Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era.

Abstract: The horse reference genome from the Thoroughbred mare Twilight has been available for a decade and, together with advances in genomics technologies, has led to unparalleled developments in equine genomics. At the core of this progress is the continuing improvement of the quality, contiguity and completeness of the reference genome, and its functional annotation. Recent achievements include the release of the next version of the reference genome (EquCab3.0) and generation of a reference sequence for the Y chromosome. Horse satellite-free centromeres provide unique models for mammalian centromere research. Despite extremely low genetic diversity of the Y chromosome, it has been possible to trace patrilines of breeds and pedigrees and show that Y variation was lost in the past approximately 2300 years owing to selective breeding. The high-quality reference genome has led to the development of three different SNP arrays and WGSs of almost 2000 modern individual horses. The collection of WGS of hundreds of ancient horses is unique and not available for any other domestic species. These tools and resources have led to global population studies dissecting the natural history of the species and genetic makeup and ancestry of modern breeds. Most importantly, the available tools and resources, together with the discovery of functional elements, are dissecting molecular causes of a growing number of Mendelian and complex traits. The improved understanding of molecular underpinnings of various traits continues to benefit the health and performance of the horse whereas also serving as a model for complex disease across species.
Publication Date: 2019-09-30 PubMed ID: 31568563PubMed Central: PMC6825885DOI: 10.1111/age.12857Google Scholar: Lookup
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Summary

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The research article discusses the advancements in equine genomics over the past decade, facilitated by the horse reference genome taken from a Thoroughbred mare named Twilight. The article particularly highlights the impact of these genetic developments on understanding equine biology, domestication, and population dynamics.

Improvement and Enhancement of the Horse Reference Genome

  • The article emphasizes the continual refinement of the quality, contiguity, and completeness of the horse reference genome over the past decade. This improvement has primarily been due to advanced genomics technologies.
  • The next version of the horse reference genome, known as EquCab3.0, has been released, along with the generation of a reference sequence for the Y chromosome.
  • The functionality of the horse genome is continually updated and annotated to enhance comprehension and usage.

Unique Insights from Equine Centromeres and Y Chromosome

  • The horse’s satellite-free centromeres provide a rare model for researching mammalian centromeres.
  • The horse’s Y chromosome typically exhibits meager genetic diversity. However, it has been used to trace breed and pedigree patrilines, demonstrating that Y variation has decreased over approximately the last 2300 years due to selective breeding.

Development of Tools and Global Population Studies

  • The high-quality reference genome has led to the creation of three distinct Single Nucleotide Polymorphism (SNP) arrays and Whole Genome Sequences (WGSs) for nearly 2000 modern individual horses.
  • There is a unique use of WGS collections from hundreds of ancient horses, a tool not available for any other domestic species. These resources are crucial for conducting global population studies that dissect the species’ history and the genetic makeup and ancestry of modern breeds.

Understanding Genetic Traits and Equine Health

  • The available tools and resources, paired with the discovery of functional elements, are used to investigate the molecular causes of numerous Mendelian and complex traits.
  • The detailed understanding and research into genetic traits significantly benefit equine health and performance. Not only does this research play a crucial role in breed improvement and disease management in horses, but it also functions as a model for complex disease across species.

Cite This Article

APA
Raudsepp T, Finno CJ, Bellone RR, Petersen JL. (2019). Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era. Anim Genet, 50(6), 569-597. https://doi.org/10.1111/age.12857

Publication

ISSN: 1365-2052
NlmUniqueID: 8605704
Country: England
Language: English
Volume: 50
Issue: 6
Pages: 569-597

Researcher Affiliations

Raudsepp, T
  • Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Research, Texas A&M University, College Station, TX, 77843, USA.
Finno, C J
  • Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA, 95616, USA.
Bellone, R R
  • Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA, 95616, USA.
  • School of Veterinary Medicine, Veterinary Genetics Laboratory, University of California-Davis, Davis, CA, 95616, USA.
Petersen, J L
  • Department of Animal Science, University of Nebraska, Lincoln, NE, 68583-0908, USA.

MeSH Terms

  • Animals
  • Centromere
  • Domestication
  • Genome
  • Horses / genetics
  • Horses / physiology
  • Male
  • Pedigree
  • Physical Conditioning, Animal
  • Polymorphism, Single Nucleotide
  • Population Dynamics
  • Y Chromosome

Grant Funding

  • L40 TR001136 / NCATS NIH HHS
  • 2019-67015-29322 / National Institute of Food and Agriculture
  • K01OD015134 / CSR NIH HHS
  • 2012-67015-19632 / National Institute of Food and Agriculture
  • K01 OD015134 / NIH HHS

Conflict of Interest Statement

The authors declare no conflict of interests.

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