The genetic differentiation of the current horse population was evolutionarily created by natural or artificial selection which shaped the genomes of individual breeds in several unique ways. The availability of high throughput genotyping methods created the opportunity to study this genetic variation on a genome-wide level allowing detection of genome regions divergently selected between separate breeds as well as among different horse types sharing similar phenotypic features. In this study, we used the population differentiation index (FST) that is generally used for measuring locus-specific allele frequencies variation between populations, to detect selection signatures among six horse breeds maintained in Poland. These breeds can be classified into three major categories, including light, draft and primitive horses, selected mainly in terms of type (utility), exterior, performance, size, coat color and appearance. The analysis of the most pronounced selection signals found in this study allowed us to detect several genomic regions and genes connected with processes potentially important for breed phenotypic differentiation and associated with energy homeostasis during physical effort, heart functioning, fertility, disease resistance and motor coordination. Our results also confirmed previously described association of loci on ECA3 (spanning LCORL and NCAPG genes) and ECA11 (spanning LASP1 gene) with the regulation of body size in our draft and primitive (small size) horses. The efficiency of the applied FST-based approach was also confirmed by the identification of a robust selection signal in the blue dun colored Polish Konik horses at the locus of TBX3 gene, which was previously shown to be responsible for dun coat color dilution in other horse breeds. FST-based method showed to be efficient in detection of diversifying selection signatures in the analyzed horse breeds. Especially pronounced signals were observed at the loci responsible for fixed breed-specific features. Several candidate genes under selection were proposed in this study for traits selected in separate breeds and horse types, however, further functional and comparative studies are needed to confirm and explain their effect on the observed genetic diversity of the horse breeds.
Native breeds of farm animals, despite their unique characteristics and adaptability to diverse and often adverse environmental conditions, are at risk due to their lower profitability and corresponding declining use. According to FAO data, there are currently around 8800 livestock breeds in the world (http://www.fao.org/dad-is/en/ update: 09.11.2019), of which 17% have been assessed to be endangered. The objective of the study was to develop a model for estimating the risk status of Polish native breeds. The proposed new model is based on 3 factors: demographic, genetic, and socio-economic. The last factor is composed of 6 elements: geographical concentration, demographic trend over the last 5 years, cultural value of a breed, parentage control, ex situ conservation and anthropogenic factors. Using the factors and elements above, among the examined 30 breeds of cattle, horses, pigs, sheep and goats, 1 was assessed as being critically endangered; 24 were determined to be endangered and in need of conservation; 5 were less endangered, but in need of constant monitoring. Out of 35 populations of poultry 29 were assessed as endangered as they were being kept in only single public collections. Six flocks of ducks were given a critical risk status, due to a very low number of females.
Traditionally, pedigree-based relationship coefficients were used to manage inbreeding and control inbreeding depression that occurs within populations. The extensive incorporation of genomic data in livestock breeding creates the opportunity to develop and implement methods to manage populations at the genomic level. Consequently, the realized proportion of the genome that two individuals share can be more accurately estimated instead of using pedigree information to estimate the expected proportion of shared alleles. To make use of this improvement, in this study we evaluated the genomic inbreeding measures in the Polish conserved cold-blooded horse population and compared the data with the traditional measures of inbreeding. Additionally, an ancestry fractions/proportions from Admixture software were tested as an estimate of lineage (ancestry coefficient) used for horses qualifying for the conservation program. The highest correlation of pedigree-based (FPED) and genomic inbreeding estimates was found for FROH (runs of homozygosity-based F coefficient) and FUNI (F coefficient based on the correlation between uniting gametes). FROH correlation with FPED tended to increase as the number of generations registered as pedigree increased. While lineage and gene contributions (Q) from Admixture software correlated, they showed poor direct compliance; hence, Q-value cannot be recommended as the estimate of pedigree-based lineage. All these findings suggest that the methods of genomics should be considered as an alternative or support in the analysis of population structure in conservative breeding that can help control inbreeding in rare horse populations.
Two types of Polish local cold-blooded horses – Sztumski and Sokólski, covered by genetic resources conservation programs, were analyzed for founder’s contribution, genetic structure and inbreeding. In both populations, created in the early twentieth century, were used the same stallions, mainly Ardennes, Belgians and Bretons. The aim of the study was to analyze the genetic variability of Sztumski and Sokólski cold-blooded horses, using pedigree information. The reference population contained 2359 horses: 1129 Sztumski and 1230 Sokólski included in conservation programs in 2014. The data set consisted of a total of 12,821 ancestor pedigrees. The results showed that in the analyzed population the number of founders was 1139 for Sztumski and 1118 for Sokólski horses; effective population size and effective number of founders were 688.8; 156.9 and 704.5; 111.4, respectively. The mean coefficient of inbreeding was 1.54 for Sztumski and 1.56 for Sokólski horses. In the gene pool the most important contribution was of Ardennes horses (43.67% in Sztumski and 46.82% in Sokólski horses), followed by Belgian horses (18.32% and 9.3%, respectively). The most important ancestors in both populations were Ardennes sires Roll-tan 699 and Gustaw 2807, and German cold-blooded sires Elbgang 1504 and Bär.
The current role of the horse as a companion animal resulted in a decrease of interest in breeding and usage of draft horses. This meant that the population of cold-blooded horses in Poland has been dramatically reduced during the last decades. To avoid impoverishment of the gene pool of the local horse population, a conservation program was established which involves draft horses and other local horse breeds. The draft horses bred in Poland can be subdivided in a few horse types of which the most widespread and consolidated are Sztumski and Sokólski horses. These two subpopulations are phenotypically diversified, however, the overall level of their genetic differentiation seems to be relatively low and not precisely determined, especially with the use of molecular markers. In reference to this, in this study we used Illumina genotyping arrays to describe in detail the genetic differentiation of these two cold-blooded horse populations. We describe the genetic distance between them, as well as within-population variation, admixture patterns, and level of relatedness within populations. We also made an attempt to detect genome regions divergently selected between those horses by the detection of diversifying selection signals. The results of this study provide initial evidence supporting breeding decisions that were made during conservation breeding program design and answer questions raised by the breeders of Sokólski and Sztumski horses concerning the level of their genetic variation and differentiation.
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