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Vienna: R Foundation for Statistical Computing; 2011.Quinlan AR, Hall IM. For 0.4 percent (173 SNPs) of the SNPs the donkey was heterozygous and the reference allele of the horse was then assumed to be the ancient one.

We are also grateful to Philip Widmann for his excellent technical support.For more information about PLOS Subject Areas, click MA and SM performed the RT-qPCR validation analysis. Analyses within and across breeds were conducted by using the integrated Haplotype Score (iHS), cross-population Extended Haplotype Homozygosity (xpEHH) and Runs of Homozygosity (ROH). SNP CNV detected in at least 1% of the samples within breed clusters, compared to the average signal of the referenceIn the present study, we identified 18,800 segment CNVs representing 13,178 segment CNV gains (average length of 414.78 kb), 5298 segment CNV losses (average length of 196.95 kb) and 324 segment CNV gains/losses (average length of 241.84 kb), compared to the reference.

2018;19:1–13.Xu L, Hou Y, Bickhart DM, Zhou Y, el HA H, et al. The remaining 1,663 of the 48,410 SNPs were randomly assigned to either of the two allele status categories. The first cluster orbits around embryonic development, whereas the second one is based on IGF binding and cell growth. 2017;45(D1):D183–9.Hu Z, Park CA, Reecy JM. . G3 (Bethesda). Genomic regions validated for CNVs by RT-qPCR. Interestingly, the first principal component represented variation between individuals, across breeds (PC1 explained 61.9% of the total variance), and the second principal component represented variation between breeds (PC2 explained 3.1% of the total variance). We found small percentages (less than 14%) of unique private intra-breed structural variants that may contribute to the equine breed diversity. For instance, specific SNP CNVs gains were detected in ECA1 (163,032,489-163,181,822) in more than 20% of the individuals belonging to the Friesian horses’ cluster, and more than 20% of the individuals belonging to the Draught cluster showed specific SNP CNV losses in ECA7 (34,601,429-34,608,700).


Analysis of genomic copy number variation in equine recurrent airway obstruction (heaves). Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies dun camouflage color in horses. Thus, the four breeds Holsteiner, Trakehner, Oldenburger and Hanoverian serve as representatives of modern sport horses with divergent breed histories.From the very start, the Trakehner breeding goal was on creating riding horses, initially for cavalry, and the breed has not undergone a change in utilization like the other three.

SNP CNV detected in at least 1% of the samples within breed, compared to the average signal of the reference. Box 338, 6700 AH, Wageningen, the NetherlandsCentre for Genetic Resources, the Netherlands (CGN), Wageningen University & Research, P.O. In spite of their common relevance to sport horse breeding, their official current breeding focus differs with respect to sporting discipline. Increased densities of typed markers are advantageous for genome-wide association studies (GWAS) and genomic predictions. Oldenburger and Hanoverian showed very similar iHS signatures, but breed specificities were detected on multiple chromosomes with the xpEHH. Sci Rep. 2016;6:23161.Paudel Y, Madsen O, Megens HJ, Frantz LAF, Bosse M, Crooijmans RPMA, et al. Bioinformatics. Nucleic Acids Res. Genome-wide detection of copy number variations among diverse horse breeds by array CGH.

2018;110(3):143–8.Skujina I, Winton CL, Hegarty MJ, McMahon R, Nash DM, Davies Morel MCG, et al. homozygous segments shared by multiple individuals, were analysed chromosome-wise using the SNP & Variation Suite v.8.8.1 [A large positive value hence indicates that an ancestral allele is under positive selection and has increased in frequency but has not yet obtained fixation. Chromosomal percentage distribution of breed cluster-specific SNP CNV gains and losses. Genetics. BMC Genomics. First, the plot for the SNP B-allele frequency ratios (normalized measure of the allelic intensity ratio of the two alleles) showed a clear separation of the individuals in three main breed groups on PC2, with the Friesian horses uniquely distinguished from the other horse breed populations, that clustered in two main subpopulations; Principal component analysis across the eight European horse breeds. You can also search for this author in 2016;47:334–44.Wang W, Wang S, Hou C, Xing Y, Cao J, Wu K, et al. Copy Number Variation (CNV) is a common form of genetic variation underlying animal evolution and phenotypic diversity across a wide range of species. The Trakehner clustered as a distinct group in a principal component analysis and also showed the highest number of ROHs, which reflects their historical bottleneck. In contrast, PCAs generated from segment CNVs showed less variation across breeds (Fig. We further sought to elucidate whether differences in breed histories can be detected through selection signatures. Other nominally significant GO terms were intermediate filament, embryonic skeletal system morphogenesis and chondrocyte differentiation (When combining the genes from iHS and ROH signatures (461 unique IDs recognised out of 523 genes), the analysis for annotation clusters yielded four clusters with at least one individual GO term enriched at p< 0.05. The Belgian draught horses showed the least variation in SNP CNVs and had a large sample size among the breeds studied. Genome Biol. For the Trakehner horses, we found by far the highest number of breed-specific ROHs.

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