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Origin and Evolution of Deleterious Mutations in Horses

by 1,2 and 1,2,*
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
Author to whom correspondence should be addressed.
Genes 2019, 10(9), 649;
Received: 23 July 2019 / Revised: 24 August 2019 / Accepted: 26 August 2019 / Published: 28 August 2019
(This article belongs to the Special Issue Equine Genetics)
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. View Full-Text
Keywords: horse; genomics; deleterious variants; mutational loads; negative selection horse; genomics; deleterious variants; mutational loads; negative selection
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MDPI and ACS Style

Orlando, L.; Librado, P. Origin and Evolution of Deleterious Mutations in Horses. Genes 2019, 10, 649.

AMA Style

Orlando L, Librado P. Origin and Evolution of Deleterious Mutations in Horses. Genes. 2019; 10(9):649.

Chicago/Turabian Style

Orlando, Ludovic, and Pablo Librado. 2019. "Origin and Evolution of Deleterious Mutations in Horses" Genes 10, no. 9: 649.

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