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Topic:Genomics
Genomics in horses involves the study and analysis of the horse genome to understand genetic variations and their implications for equine health, performance, and breeding. This field encompasses the identification and mapping of genes associated with specific traits, diseases, and conditions in horses. Techniques such as whole-genome sequencing and genome-wide association studies (GWAS) are employed to explore genetic diversity and inheritance patterns among different horse breeds. Genomics provides insights into hereditary disorders, informs selective breeding practices, and aids in the development of personalized veterinary care. This page compiles peer-reviewed research studies and scholarly articles that explore the applications, methodologies, and findings of genomic research in equine science.
Genome-wide exploration of coat color-associated loci in Hokkaido Native Horses, with a novel locus implicated in the roan phenotype. Genes and loci regulating horse coat color have been investigated in many breeds, but their associations with the 16 coat colors of the Hokkaido Native Horse (HKD) remain unknown. HKDs were classified according to coat-color groups based on pedigree-recorded coat color, and genome-wide association (GWA) analyses were performed. Except for gray and roan, a clear single signal corresponding to the known locus was obtained for each coat color, suggesting that the reported loci are the primary causes of these coat colors. Because gray and roan are difficult to distinguish visually and may therefor...
Transcriptome Sequencing and Differential Expression Analysis of Ovaries from Kazakh Mares During Seasonal Quiescence and Estrus Activation. Kazakh horses are typical seasonal breeders, and ovarian activity is markedly reduced during the non-breeding period. Hormonal stimulation can induce ovarian functional responses during seasonal anestrus; however, the early ovarian transcriptional changes associated with this response remain incompletely understood. In this study, ovarian transcriptome sequencing was performed in 12 Kazakh mares examined during the seasonal anestrous period. The mares were classified into a non-hormonally stimulated seasonal quiescent group (DB, = 6) and a hormone-induced ovarian activation group (DY, = 6) f...
The Polish Konik Horse: A Multidisciplinary Review of Its Origin, Genetics, Ecology, Health, Behaviour and Reproductive Biology. The Polish Konik horse (PKH) is one of Europe's best-known native conservation breeds. Traditionally associated with the extinct Eurasian tarpan and conservation grazing, the breed has recently become the subject of multidisciplinary research encompassing genetics, ecology, health, behaviour and reproduction. This narrative review summarises current knowledge on the biological characteristics and contemporary scientific significance of the PKH. Literature published between 2005 and 2026 was identified through searches of PubMed, Scopus, Web of Science and Google Scholar and narratively synthes...
Phylogenetic and phylogeographic analysis of equine influenza in Colombia. In 2022, Colombia experienced an outbreak of equine influenza (EI) that primarily affected competition horses. Despite the epidemiological relevance of equine influenza virus (EIV) in the country, no previous phylogenetic or phylogeographic analyses based on complete genomes have been reported. Objective: To perform phylogenetic and phylogeographic analyses of complete EIV genomes obtained from horses with clinical signs in two Colombian regions between 2020 and 2023. Methods: Molecular epidemiological study based on whole-genome sequencing and evolutionary analyses. Methods: Nasopharyngeal sa...
Comparative genomics of Standardbred horses reveals candidate regions under selection for harness racing performance. Harness racing performance in horses is a complex polygenic trait influenced by genetic background, breeding history, training, and environment. Understanding genomic patterns shaped by long-term artificial selection provides insights into performance-related traits and breed-specific genomic variation. Objective: This study aimed to characterize genomic differentiation, population structure, and candidate genomic regions potentially influenced by historical selection in Standardbred horses using comparative whole-genome sequencing involving diverse horse breeds. Methods: Whole-genome sequenci...
Comparative analysis of the karyotypes of Equus caballus and Equus asinus in the context of contemporary genomic data. Karyotypes of species within the genus Equus display considerable variation in chromosome number and are characterised by numerous structural rearrangements that have played a pivotal role in their evolutionary divergence and speciation. Equus caballus (horse), 2n = 64 and Equus asinus (donkey), 2n = 62, constitute particularly interesting models for comparative studies due to the diversified morphology of their chromosomes, including acrocentric and submetacentric pairs, documented Robertsonian translocations, and centric fusions. In recent decades, widely applied molecular cytogenetic techni...
Adaptive variation in butyrylcholinesterase-influenced lipid metabolism during horse domestication. Lipid metabolism influences horse athletic performance, yet its genetic basis remains unclear. Here, we investigate the genetic basis of lipid metabolic traits by quantifying key metabolic parameters and sequencing the genomes of 298 horses. We identify a missense mutation (ECA19:9,198,989, G>C) in the BCHE gene that is strongly associated with lipid metabolism, especially butyrylcholinesterase (BChE) activity. The "C" allele is associated with increased BChE activity and reduced intracellular triglyceride levels, hepatic adiposity, and overall fat mass, highlighting a central role for BCHE in...
Genetic variants of EcPV2 E6 and E7 in equine genital and oronasal squamous cell carcinoma. Since its discovery in 2008, equine papillomavirus type 2 (EcPV2) has been detected in up to 100% of equine genital and up to 40% of equine oronasal squamous cell carcinomas (SCCs). Preliminary sequence data point to the existence of EcPV2 E6 and E7 oncogene variants compared to the British reference sequence from 2008. Objective: To Identify E6 and E7 sequence variations in EcPV2-positive tumours of horses from Continental Europe and Iceland. Methods: Cross-sectional study. Methods: EcPV2 E6 and E7 were amplified from DNA of 60 EcPV2-positive SCCs/SCC precursor lesions. Amplicons were gel-pur...
First-time description of MHC diversity in Straight Egyptian Arabian horses using immune-linked microsatellite markers. Understanding the immunogenetic structure of the major histocompatibility complex (MHC) in Arabian horses helps to clarify the population health structure-related phenotypes of this historically influential breed. Straight Egyptian (SE) Arabian horses, which fall under , are of global value but are limited in number, raising concerns about their distribution and the genetic diversity associated with immunity. In this study, we examined 57 Egyptian Arabian horses from two breeding programs: one in Germany (AR-DE) and the other in Qatar (AR-QA). Sixteen polymorphic intra-MHC microsatellite marke...
Comparative genomic analysis of oxytocin and oxytocin receptor genes in the family Equidae. The oxytocin (OXT) - oxytocin receptor (OXTR) system regulates diverse biological processes including social behavior, stress responses, and processes related to domestication. While OXT is highly conserved, OXTR shows greater variability, which may contribute to species-specific adaptations. Methods: Comparative genomic analyses of OXT and OXTR coding sequences were performed across equid species using available genome assemblies and newly generated sequences obtained by next-generation sequencing. Phylogenetic relationships were inferred using maximum likelihood methods. Selection was assess...
Characterization of Lipizzan Horse Population From Lipica Stud Using Molecular and Pedigree Data. In this study, we analysed genetic diversity, population structure and inbreeding in the Lipica Stud Farm population by integrating pedigree records, microsatellite (STR) and genome-wide SNP data generated using the GGP Equine 70K BeadChip. The dataset comprised 233 horses from the Lipica Stud Farm, which served as the reference population for comparisons of diversity estimates based on pedigree-, STR- and SNP data. The STR data were originally generated for routine parentage verification and were included here to compare inbreeding estimates based on pedigree, STR and genome-wide SNP data. Pe...
Whole-genome characterization and phylogenetic analysis of Equine Rotavirus A isolated from Jeju Island, Korea. Equine Rotavirus A (ERVA) is a major cause of acute diarrhea in neonatal foals, leading to significant economic losses. Genetic variation and global transmission complicate disease control efforts. Objective: To analyze the complete genome of an ERVA strain from Jeju Island, Korea, and assess its genetic and phylogenetic relationships with global ERVA strains. Methods: Twenty-five fecal and swab samples were collected from diarrheic horses in Jeju during spring and summer 2025. Samples were screened using antigen testing and RT-PCR. One PCR-positive, antigen-test-positive sample was selected f...
Genome-Wide Identification and Characterization of the Wnt Gene Family in Donkey (Equus asinus): Phylogenetic Analysis and Expression Profiling. The gene family encodes highly conserved signaling molecules involved in vertebrate development, tissue homeostasis, and cell fate regulation. However, the evolutionary characteristics and potential biological functions of genes in the domestic donkey () remain poorly understood. In this study, we performed the first genome-wide identification and comprehensive characterization of the donkey gene family. A total of 19 genes were identified, consistent with the conserved repertoire reported in other mammalian species. Phylogenetic and synteny analyses revealed strong evolutionary conservat...
Phased T2T horse and donkey assemblies from a mule reveal peculiar equid centromere evolution. We present telomere-to-telomere genome assemblies of a Thoroughbred horse and a donkey derived from their mule offspring. Now adopted and annotated by NCBI as reference genomes, these assemblies resolve previously inaccessible regions, including satellite arrays, duplications, and telomeres. Equids are known to exhibit an uncoupling between satellite DNA and centromeric function. The completeness of these assemblies enabled annotation of both satellite-based and satellite-free centromeres, as well as non-centromeric satellite loci, revealing notable centromeric plasticity. They also allowed de...
Approaches to Thoroughbred Horse Identification in Diverse Sample Types Using Multiplexed SNP-PCR Sequencing Panels. The ability to determine the identity of equine samples would be highly advantageous in cases of ambiguous sample source, as individual-specific controls for gene editing detection, or forensic examination of suspect biological materials in potential doping cases. To this end, a SNP-PCR sequencing-based panel comprising 93 markers in one reaction was designed and investigated for use in Thoroughbred horses. Marker amplification performance and discriminating power were calculated against a population survey of 264 Thoroughbred whole blood samples from routine doping testing. The sensitivity of...
Somatic cell nuclear transfer as a complementary tool for genetic conservation of the Peruvian Paso horse. The Peruvian Paso horse, a breed of national significance in Peru known for its unique gait, has been selectively bred for nearly 500 years and now faces potential risks due to reduced genetic diversity. To investigate the potential of somatic cell nuclear transfer to enhance genetic conservation strategies, a program was initiated to produce cloned Peruvian Paso foals. Skin biopsies from a highly awarded stallion with exceptional breed-defining traits were used as the source of donor somatic cells. Of the 15 cloned embryos reconstructed, seven blastocysts were produced, and five were transfer...
A Global Structural Variation Map Reveals Novel Variants for Body Conformation and Racing Ability in Horses. The selection of horses has been instrumental in shaping long-range mobility, advancing warfare strategies, and diversifying equine phenotypes. However, the structural variants (SVs) favored by this process remain largely unexplored. Utilizing high-fidelity Pacific Biosciences sequencing, we assembled three high-quality horse genomes, incorporating 237 Mb (9.48%) of novel sequences relative to the existing reference genome. These assemblies achieved an average Benchmarking Universal Single-Copy Orthologs completeness of 95.1%. By employing a graph-based approach, we genotyped 23,163 high-con...
Compartmentalization of DHCR7 links 7-DHC metabolism to B-ring unsaturated steroid synthesis in the equine fetal gonad. The endocrinology of equine pregnancy is unique, but many of its unusual phenomena closely resemble pregnancy in women. Placental estrone synthesis uses fetal adrenal androgen precursors in women, but from the fetal gonads in mares, peaking midway through the 11-month gestation. Unique to equine pregnancies, other estrogens like equilin, typified by an unsaturated B-ring sterol structure, are synthesized from 7-dehydrocholesterol (7-DHC), the immediate precursor to cholesterol, without cholesterol formation, peaking later in gestation. Currently, the spatial and temporal regulation underlying ...
Demographic change and selection patterns in thoroughbred racing horses over the 20th century. The Thoroughbred horse is a legacy of centuries of selective breeding for speed, emerging from the admixture of British mares and imported Oriental stallions. While previous work explored its genetic diversity, inbreeding, and selection signatures, the breed demographic and selection dynamics during the 20-century remain poorly understood. Here, we sequenced the genome of Phar Lap, a late-1920s/early-1930s racing champion, and analyzed the largest time-series of Thoroughbred whole-genome sequences, within a global panel of 850 horse genomes. Demographic modeling reveals a marked decline in gen...
Sequencing and Differential Analysis of miRNA in the Ovaries of Kazakh Horses During Estrus and Anestrus States. To reveal the regulatory role of miRNA in the estrous cycle transition of Kazakh horse ovaries and improve their reproductive efficiency, this study took the ovaries of Kazakh horses in the estrus period (DY group) and the quiescent period (DB group) as research objects. Small RNA sequencing and bioinformatics analysis were used to systematically analyze the expression characteristics and functional pathways of miRNA under the two physiological states. A total of 161 million high-quality miRNA tags were obtained through sequencing. Principal component analysis showed that the intra-group repea...
Genomic diversity and historical legacy of Baroque horses: a living cultural heritage. Baroque horses represent a distinctive group of breeds that emerged mainly between the 16th and 18th centuries, shaped by the demands of European royalty and their courts. Although recognised as separate breeds, they share common ancestry, breeding goals, and historical gene flow. This study aimed to evaluate their genomic diversity, population structure, and admixture patterns. We analysed 1 160 individuals from eight breeds - Lipizzan, Old Kladruby Horse, Pura Raza Española, Lusitano, Friesian, Criollo, Peruvian Paso, and Puerto Rican Paso Fino - using 34 026 single-nucleotide polymorphis...
Mitochondrial DNA reveals high maternal diversity within a weak breed structure in native Kazakhstani horses. Understanding the genetic diversity and evolutionary history of domestic horses () is essential for reconstructing their population dynamics and origins. In this study, we analyzed mitochondrial DNA variation (COI and cytb) in six Kazakhstani horse populations representing four native breeds (Kazakh, Kostanay, Adai, and Mugalzhar) to assess genetic diversity, population structure, and evolutionary relationships within a broader phylogenetic framework. High haplotype diversity combined with low nucleotide diversity revealed population expansion and admixture. Population structure analyses revea...
Conserved skeletal muscle transcriptomic responses to pacing strategies in Thoroughbred horses. This study investigated whether different pacing patterns during high-intensity exercise elicit distinct transcriptional responses in equine skeletal muscle. Eight Thoroughbred horses completed two treadmill exercise sessions in a randomized crossover design. In the positive-pacing condition, horses exercised at 110% maximal O₂ uptake (V˙O₂max) for 1 min followed by 90% V˙O₂max for 1 min, whereas in the negative-pacing condition, the order was reversed. At 4 h after exercise, the positive-pacing protocol resulted in upregulation of 1,989 genes and downregulation of 840 genes, whereas t...
Genome-Wide Characterization of the TGF-β Gene Family in Donkey (Equus asinus) Reveals Lineage-Specific Gene Duplications and Deleterious Mutations. The transforming growth factor-beta (TGF-β) superfamily regulates diverse biological processes, including proliferation, differentiation, apoptosis, tissue remodeling, and reproductive signaling across metazoans. Here, we performed a genome-wide characterization of the TGF-β gene family in donkey (, ASM1607732v2) using comparative genomics and bioinformatics analyses, with horse (, EquCab3.0) as a reference to investigate evolutionary conservation and functional divergence. Genome assemblies and proteomes were retrieved from NCBI, and TGF-β genes were identified using BLASTp and HMMER searc...
Genetic Diversity in Domestic Horses: Temporal Patterns, the Influence of Assisted Reproductive Technologies, and Implications for the American Quarter Horse. Genetic diversity is the heritable variation within and among populations and is essential for the long-term health and selection potential of domestic horses. Previous studies show diversity across breeds is shaped by effective population size, founder events, artificial selection, and levels of inbreeding. While some closed-studbook breeds retain moderate genetic diversity, others have experienced rapid losses due to popular-sire effects and recent and extensive inbreeding. Even so, mare lines continue to help maintain genetic diversity within these populations. Assisted Reproductive Technol...
Identification of Genomic Differences Resulting from Selection in Iranian Kurdish and Turkmen Horse Breeds Using Single Nucleotide Polymorphisms. Breakthroughs in genomic technologies have enabled the formulation of methods to identify genomic variation in domestic animal species. Detection of the variation is necessary because it is associated with breed characteristics and economic importance in domestic animal genetics. Unassigned: This study aimed to identify the genomic regions in Turkmen and Kurdish horse breeds that have been the target of different selections over many years. It also sought to locate the genes and Quantitative trait loci (QTL) in these regions that contributed to the differentiation of these two breeds or the di...
Advanced paternal age is associated with reduced reproductive success and offspring racing performance in Australian Thoroughbred racehorses. Reproductive ageing influences fertility and offspring fitness across mammals. In humans and model organisms, paternal age has been associated with changes in sperm quality and genomic integrity, including oxidative stress, DNA damage, and epigenetic alterations; however, these mechanisms have not been directly examined in large equine populations. Thoroughbred racehorses provide a system to investigate paternal age effects at scale using detailed breeding records. In this retrospective observational study, with data from 35 retired stallions and 33,546 progeny, we assessed associations betwee...
Complete genome of Bacillus anthracis strain ter21 from an infected zoo pony in Ternopil, Ukraine, 2021. Using rapid nanopore whole-genome sequencing, we assembled the genome of strain ter21 (5,229,480 bp), a Tsiankovskii-I group isolate cultured from a fatal case in 2021 of a pony from a zoo in Ternopil, Ukraine, identifying virulence plasmid pXO1 that encodes anthrax toxin, and pXO2.
Integrated transcriptomic profiling reveals oncogenic pathways and chimeric transcripts in equine sarcoid lesions with predominant BPV1 detection. Sarcoids are the most common cutaneous tumors in horses, representing up to 90% (35%-90%) of skin neoplasms. Mostly caused by Bovine Papillomavirus (BPVs) infections, sarcoids are highly resistant to therapy and prone to recurring, posing a significant threat to equine health. The aim of this study is to explore molecular pathogenetic mechanisms underlying the development of equine sarcoids, by applying transcriptomic approach. After testing samples for viral DNA, both mRNA and small RNA expression was analyzed via high-throughput Illumina sequencing comparing 12 sarcoids and 12 healthy skin s...
