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Genes2019; 10(9); 649; doi: 10.3390/genes10090649

Origin and Evolution of Deleterious Mutations in Horses.

Abstract: Domestication has changed the natural evolutionary trajectory of horses by favoring the reproduction of a limited number of animals showing traits of interest. Reduced breeding stocks hampered the elimination of deleterious variants by means of negative selection, ultimately inflating mutational loads. However, ancient genomics revealed that mutational loads remained steady during most of the domestication history until a sudden burst took place some 250 years ago. To identify the factors underlying this trajectory, we gather an extensive dataset consisting of 175 modern and 153 ancient genomes previously published, and carry out the most comprehensive characterization of deleterious mutations in horses. We confirm that deleterious variants segregated at low frequencies during the last 3500 years, and only spread and incremented their occurrence in the homozygous state during modern times, owing to inbreeding. This independently happened in multiple breeds, following both the development of closed studs and purebred lines, and the deprecation of horsepower in the 20th century, which brought many draft breeds close to extinction. Our work illustrates the paradoxical effect of some conservation and improvement programs, which reduced the overall genomic fitness and viability.
Publication Date: 2019-08-28 PubMed ID: 31466279PubMed Central: PMC6769756DOI: 10.3390/genes10090649Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This research paper examines how domestication and limited selective breeding techniques have led to an increase in harmful gene mutations in horses. While these harmful gene variants remained relatively stable throughout much of domestication history, a sudden increase happened about 250 years ago, attributed to inbreeding across a number of horse breeds.

Study Background and Purpose

  • The study aimed to discover the factors responsible for an observed increase in deleterious or harmful mutations in domesticated horses. This comes as the result of the reproduction of a limited number of horses with desirable traits, which reduced breeding stocks and inhibited negative selection. This, in turn, resulted in an inflated mutational load.

Data Collection and Analysis

  • The researchers acquired an extensive dataset of 175 modern and 153 ancient horse genomes that had been previously published. They analyzed these to perform an in-depth characterization of deleterious mutations in horses.
  • The researchers found that these harmful gene variants had maintained low frequencies over the last 3500 years. However, they saw a spike in these variants’ occurrence in their homozygous (identical) state during modern times due to inbreeding.
  • Interestingly, this increase in harmful mutations happened independently across multiple horse breeds. This followed the development of closed studs, the establishment of purebred lines, and the depreciation of horsepower in the 20th century, which left many draft breeds on the brink of extinction.

Implications and Conclusions

  • The research points out a paradox in horse conservation and improvement programs. While these programs aim to preserve and enhance certain traits, the techniques used to achieve these goals, primarily inbreeding, have inadvertently produced the opposite effect.
  • Instead of fostering genetic health, these programs have reduced the overall genomic fitness of horses and made them more susceptible to potentially harmful genetic variations. This result highlights the need for diverse, open breeding programs that can reinforce positive traits without compromising the genetic health of the animals.

Cite This Article

APA
Orlando L, Librado P. (2019). Origin and Evolution of Deleterious Mutations in Horses. Genes (Basel), 10(9), 649. https://doi.org/10.3390/genes10090649

Publication

ISSN: 2073-4425
NlmUniqueID: 101551097
Country: Switzerland
Language: English
Volume: 10
Issue: 9
PII: 649

Researcher Affiliations

Orlando, Ludovic
  • Laboratoire d'Anthropobiologie Moléculaire et d'Imagerie de Synthèse, CNRS UMR 5288, Université de Toulouse, Université Paul Sabatier, 31000 Toulouse, France.
  • Globe Institute, Faculty of Health and Medical Sciences, University of Copenhagen, 1350K Copenhagen, Denmark.
Librado, Pablo
  • Laboratoire d'Anthropobiologie Moléculaire et d'Imagerie de Synthèse, CNRS UMR 5288, Université de Toulouse, Université Paul Sabatier, 31000 Toulouse, France. plibradosanz@gmail.com.
  • Globe Institute, Faculty of Health and Medical Sciences, University of Copenhagen, 1350K Copenhagen, Denmark. plibradosanz@gmail.com.

MeSH Terms

  • Animals
  • Evolution, Molecular
  • Genetic Fitness
  • Genetic Load
  • Horses / genetics
  • Mutation
  • Selection, Genetic
  • Selective Breeding

Grant Funding

  • 681605 / European Research Council

Conflict of Interest Statement

The authors declare no conflict of interest.

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Citations

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