Genetic Diversity in Domestic Horses: Temporal Patterns, the Influence of Assisted Reproductive Technologies, and Implications for the American Quarter Horse.
Abstract: Genetic diversity is the heritable variation within and among populations and is essential for the long-term health and selection potential of domestic horses. Previous studies show diversity across breeds is shaped by effective population size, founder events, artificial selection, and levels of inbreeding. While some closed-studbook breeds retain moderate genetic diversity, others have experienced rapid losses due to popular-sire effects and recent and extensive inbreeding. Even so, mare lines continue to help maintain genetic diversity within these populations. Assisted Reproductive Technologies (ART) have expanded the use of popular stallions, and the increasing application of ovum pickup (OPU) followed by in vitro embryo production (IVEP) may also concentrate genetic contributions from a limited number of mares. Yet, the overall impact of ART on equine genetic diversity remains largely unknown. Registration-based genetic data from the American Quarter Horse, a breed previously considered relatively genetically diverse, showed a 1.38% decline in diversity (based on effective number of alleles) in the last generation (2012 vs. 2022). Genetic diversity metrics indicate that 2022 foals produced via ART were less diverse than those produced by live cover (p<0.01). Mares utilized in ART cohorts were significantly less diverse than those utilized in live cover (p<0.01), while stallions were largely not different between groups. These findings suggest that ART-associated breeding schemes, particularly reduced diversity among mares, are contributing to the observed decline. Taken together these data establish baselines to monitor the clinical relevance of differences in genetic diversity across generations and cohorts in this breed. Understanding how ART interacts with breeding decisions to shape genetic diversity is critical for developing strategies that preserve variation while supporting industry goals including genetic gains.
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The research highlights a recent decline in genetic diversity linked to ART practices, especially involving mare selection, and discusses the implications for breed health and management.
Introduction to Genetic Diversity in Domestic Horses
Genetic diversity refers to the heritable variation found within and across horse populations.
It is crucial for the long-term health, vitality, and ability of horses to adapt through selective breeding.
Previous research has identified key factors shaping genetic diversity, including:
Effective population size – the number of individuals contributing genes to the next generation
Founder events – initial breeding animals that established the population
Artificial selection – human-driven breeding choices favoring certain traits
Inbreeding levels – mating among related animals that can reduce diversity
Some horse breeds with closed studbooks (no new external genetic input) maintain moderate diversity, but others suffer rapid loss from popular sire effects (overuse of a few males) and intensive inbreeding.
Mare lines (female lineage) still play a critical role in maintaining diversity within these populations.
The Role of Assisted Reproductive Technologies (ART)
ART includes breeding techniques like artificial insemination, embryo transfer, ovum pickup (OPU), and in vitro embryo production (IVEP).
These technologies allow for:
Greater use of top-performing stallions across many mares
Potential concentration of genetic contributions from fewer mares
The overall impact of ART on genetic diversity in horses had been largely unknown prior to this study.
Study Focus: American Quarter Horse Breed
The American Quarter Horse is a breed previously considered to maintain relatively high genetic diversity.
Researchers analyzed registration-based genetic data across different cohorts, particularly comparing generations from 2012 and 2022.
Main findings include:
A 1.38% decline in genetic diversity over the last generation assessed by the effective number of alleles metric.
Foals born via ART in 2022 were statistically less genetically diverse than those born via traditional live cover breeding (p<0.01).
Mares involved in ART were significantly less diverse than mares in live cover matings (p<0.01).
Stallion diversity did not significantly differ between ART and live cover groups.
Interpretation and Implications
The data suggest that breeding schemes associated with ART, especially the use of less genetically diverse mares, contribute to the observed recent decline in genetic diversity.
This is concerning because reduced genetic diversity can:
Compromise breeding flexibility and selection potential
Reduce overall population health
The study establishes important baseline metrics for monitoring how genetic diversity changes across generations and different breeding methods.
Understanding the interaction between ART and breeding decisions is essential to:
Develop breeding strategies that preserve or enhance genetic variation
Support industry goals such as genetic improvement while maintaining breed health
Mitigate risks associated with popular sire effects and inbreeding facilitated by ART
Conclusion
This research highlights the critical need to consider the genetic consequences of assisted reproductive technologies in domestic horse breeding.
Careful management of mare genetic diversity in ART programs will be key to sustaining the health and adaptability of the American Quarter Horse and other breeds.
Continued genetic monitoring and strategic breeding decisions are recommended to balance technological advancements with the preservation of genetic diversity.
Cite This Article
APA
Bellone RR, Hoff J, Spier H, Dini P, Avila F.
(2026).
Genetic Diversity in Domestic Horses: Temporal Patterns, the Influence of Assisted Reproductive Technologies, and Implications for the American Quarter Horse.
J Equine Vet Sci, 106072.
https://doi.org/10.1016/j.jevs.2026.106072
Department of Population Health and Reproduction, Weill School of Veterinary Medicine, University of California, Davis, One Shields Avenue, Davis, CA 95616; Veterinary Genetics Laboratory, Weill School of Veterinary Medicine, University of California, Davis, One Shields Avenue, Davis, CA 95616. Electronic address: rbellone@ucdavis.edu.
Hoff, J
Veterinary Genetics Laboratory, Weill School of Veterinary Medicine, University of California, Davis, One Shields Avenue, Davis, CA 95616.
Spier, H
The American Quarter Horse Association, 1600 Quarter Horse Drive, Amarillo, TX 79104.
Dini, P
Department of Population Health and Reproduction, Weill School of Veterinary Medicine, University of California, Davis, One Shields Avenue, Davis, CA 95616.
Avila, F
Veterinary Genetics Laboratory, Weill School of Veterinary Medicine, University of California, Davis, One Shields Avenue, Davis, CA 95616.
Conflict of Interest Statement
Declaration of competing interest RRB, JH, and FA are affiliated with the UC Davis Veterinary Genetics Laboratory, which provides parentage testing and genetic diagnostic testing in horses and other species. HS is affiliated with the American Quarter Horse Association.