Genome-wide survey on three local horse populations with a focus on runs of homozygosity pattern

J Anim Breed Genet. 2022 Sep;139(5):540-555. doi: 10.1111/jbg.12680. Epub 2022 Apr 21.


Purosangue Orientale Siciliano, Sanfratellano and Siciliano represent the Sicilian equine genetic resource. This study aimed to investigate the genetic diversity, population structure and the pattern of autozygosity of Sicilian horse populations using genome-wide single-nucleotide polymorphism (SNP) data generated with the Illumina Equine SNP70 array. The genotyping data of 17 European and Middle East populations were also included in the study. The patterns of genetic differentiation, model-based clustering and Neighbour-Net showed the expected positioning of Sicilian populations within the wide analysed framework and the close connections between the Purosangue Orientale Siciliano and the Arab as well as between Sanfratellano, Siciliano and Maremmano. The highest expected heterozygosity (He ) and contemporary effective population size (cNe) were reported in Siciliano (He = 0.323, cNe = 397), and the lowest were reported in Purosangue Orientale Siciliano (He = 0.277, cNe = 10). The analysis of the runs of homozygosity and the relative derived inbreeding revealed high internal homogeneity in Purosangue Orientale Siciliano and Arab horses, intermediate values in Maremmano and Sanfratellano and high heterogeneity in the Siciliano population. The genome-wide SNP analysis showed the selective pressure on Purosangue Orientale Siciliano towards traits related to endurance performance. Our results underline the importance of planning adequate conservation and exploitation programmes to reduce the level of inbreeding and, therefore, the loss of genetic diversity.

Keywords: SNPs; autochthonous horses; genetic diversity; runs of homozygosity.

MeSH terms

  • Animals
  • Genome* / genetics
  • Genotype
  • Homozygote
  • Horses / genetics
  • Inbreeding*
  • Polymorphism, Single Nucleotide
  • Population Density