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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.
Matched embryo-endometrium RNA-seq reveals coordinated but asymmetric transcriptomic reprogramming at the onset of early equine pregnancy. Maternal recognition of pregnancy (MRP) in the mare requires coordinated adaptations of both the conceptus and the endometrium during the peri-recognition interval; however, integrated transcriptomic analyses of both compartments within the same biological window remain limited. Here, we analyzed conceptus RNA-seq data across embryonic age (Days 8 and 12 post ovulation) and endometrial RNA-seq data across pregnancy status (pregnant versus non-pregnant mares sampled between Days 8 and 12 post ovulation). In pregnant mares, conceptus recovery and endometrial biopsy collection were performed with...
Polygenic Prediction of Equestrian Sport Discipline Among Horses Bred for Jumping and Dressage. Horses bred for different equestrian sports vary in physical, physiological and behavioural requirements. Characterising genetic markers associated with discipline provides an opportunity to improve identification of horses best suited to either jumping or dressage. Using a composite selection signals test, genomic regions under positive selection in German warmblood horses divergent for discipline were identified that contained lead SNPs proximal to or within genes with functions relevant to the requirements for jumping and dressage. Dressage genes function in tortuosity of movement (GRM5) an...
Transcriptomic and Meat Quality Differences in Longissimus Dorsi Muscle of Surgically Castrated Three-Year-Old Kazakh Horses. Although the Kazakh horse is a dual-purpose breed renowned for both milk and meat production, the extent to which surgical castration alters gene expression in its muscles has not yet been fully elucidated. In this study, left longissimus dorsi muscle (LDM) samples were obtained from six Kazakh stallions (W group) and six Kazakh geldings (S group) to comparatively evaluate meat quality parameters, examine histological characteristics in tissue sections, and apply transcriptomic profiling to comprehensively explore the principal regulatory pathways and candidate genes through which surgical cas...
A Comprehensive Analysis of the Agreement and Performance of Variant Annotation Programs in Equine Genomes. Advances in whole-genome sequencing (WGS) technology have led to the widespread adoption of WGS for investigating genetic diseases and traits in domestic animals. This has created a need for improved methods for prioritizing candidate causal variants. One way variants are prioritized is using variant annotators that predict variant effects based on their proximity to genomic features and effect on amino acid sequence. However, validation of variant annotators for domestic animal genomes is lacking. In this study, we calculated the agreement of three popular variant annotators, Ensembl Varian...
Integrative Advances in Equine Genomics From Reference Assemblies to Evolutionary History and Key Traits. Horses are major domestic animals and cultural symbols that have accompanied humans for millennia. They underpin transport, agriculture, warfare and sport, and also provide a model for studying domestication, complex traits and adaptive evolution. Recent work in equine genomics has now generated a much richer picture of how these roles are grounded in the genome. This review brings together advances in several connected areas: the construction and refinement of reference assemblies; genomic reconstructions of origin, domestication and dispersal; global and regional patterns of genetic diversit...
Chromosomal chaos: understanding aneuploidy associated with assisted reproductive technologies. Pregnancy loss remains a significant challenge for the equine breeding industry, with substantial economic and management consequences. Chromosomal abnormalities have emerged as a central driver of pregnancy loss, particularly during early gestation, highlighting the need to better understand the etiology of this inherent genetic instability. Concurrently, the rapid expansion of assisted reproductive technologies (ART) offers promise for improving equine reproductive efficiency alongside the traditional practice of natural cover. However, the increasing use of in vitro embryo production (IVP) ...
Synovial transcriptomic biomarkers predict structural severity in equine osteochondral fragment-induced experimental osteoarthritis. Develop a global joint score (GJS) reflecting equine osteoarthritis (OA) structural severity and identify clinical or molecular parameters predicting disease severity. Unassigned: A retrospective analysis was performed using data from horses (n = 104; 58 females and 46 geldings; 2 to 5 years old) undergoing experimental OA induction via surgical osteochondral fragment creation in the middle carpal joint and high-speed treadmill exercise over 70 days. Longitudinal measures included subjective lameness examinations (lameness, effusion, and flexion), synovial fluid (SF) and serum glycosaminoglyca...
Prevalence and Genetic Characterization of Giardia duodenalis and Blastocystis sp. in Horses in Shanxi Province, North China. (synonyms and ) and sp. are prevalent zoonotic intestinal protozoans with significant public health and economic importance. Both parasites infect various hosts, including humans and most livestock. can cause infections ranging from asymptomatic carriage to clinical manifestations such as acute diarrheal disease, growth stunting and malabsorption, whereas sp. infection is often asymptomatic and its pathogenicity remains debated. Following the rapid expansion of modern equine industries (horse racing, equestrian sports, production, and tourism), concern about the spread of parasitic diseas...
A Breed-Specific SNP Panel With Higher Theoretical Exclusion Power and Practical Equivalence to International Standards for Parentage Testing in Pura Raza Española Horses. Accurate parentage assignment is essential for managing livestock breeding and genetic improvement. This study evaluated a breed-specific SNP panel (375 SNPs) for the Pura Raza Española (PRE) horse, comparing its performance against the traditional STR reference panel (18 microsatellite) and the international ISAG SNP core panel (378 SNPs) across population scenarios differing in levels of inbreeding and kinship. The PRE-specific SNPs were selected from the Axiom EQUIGENE array based on high genotyping reliability (call-rate > 99%), Mendelian error minimization, Hardy-Weinberg equilibr...
Towards a Comprehensive Screening Approach for Detecting Gene Doping in Racehorses and Sport Horses by Targeting Common and Intrinsic Plasmid Sequences. The evolution of biotechnology and gene therapy has unfortunately facilitated the emergence of gene doping. Those misused applications are prohibited in equestrian sports (International Equestrian Federation (FEI)) and in horseracing (International Federation of Horseracing Authorities [IFHA]), reflecting major concerns regarding horse welfare and the integrity of competitions. Among the biotechnological tools that could be misused, eukaryotic expression plasmids represent a particular threat due to their ease of production, customisable design and ability to carry a wide range of performance ...
Machine learning-based gait classification and genome-wide association identify a QTL for gait type in Colombian paso horses. Coordinated mammalian locomotion relies on spinal circuits where regulates strides and alternative gaits. However, does not explain differences between the Colombian paso horse breed's specialized gaits, Colombian trocha and Colombian trot. We used inertial sensors and machine learning to develop accurate phenotyping ( = 225 horses), before performing genome-wide association analysis ( = 85 horses, 670K array). We identified a 2.43 Mb quantitative trait locus (QTL) on ECA16, where haplotypes featuring lead variants (rs1147402472, = 1.95 × 10; rs1136628503, = 8.52 × 10) explained 48.6% of...
Cytogenetic, genomic, and reproductive characterization of four pura Raza Española mares carrying a 64, X, del(X),t(X; Y) complex karyotype. Chromosomal abnormalities involving the sex chromosomes constitute critical genetic factors influencing fertility in horses. Nevertheless, a substantial proportion of individuals carrying sex chromosomal abnormalities exhibit normal reproductive phenotypes, which complicates their identification until adulthood. Here, we present four mares carrying a complex deletion/translocation rearrangement with the karyotype formula 64, X, del(X)(p∼25),t(X; Y)(p∼25; q∼15). The cases analyzed belong to three unrelated families of Pura Raza Española (PRE), all presenting the same chromosomal abnormal...
Meat Quality Characteristics of Mongolian Horses in Inner Mongolia: Regional Superiority and Transcriptomic Insights into Tenderness Differences Between Muscular Locations. Horse meat is a high-quality protein source. A total of 50 two-year-old male horses with similar body weights (300 ± 50 kg) were used: 30 for regional comparison (10 each from Bulgan province region of Mongolia (BPM), Tuv province region of Mongolia (TPM), and Inner Mongolia region of China (IMC)) and an additional 20 from the IMC region for muscle-site analysis. To elucidate the molecular mechanisms underlying regional and muscle-site differences in the meat quality of Mongolian horses, with particular emphasis on tenderness, this study analyzed chemical composition, minerals, fatty acids, a...
Prevalence, genomic diversity and emerging antimicrobial resistance of Taylorella asinigenitalis in Grand Noir du Berry breeding donkeys. Taylorella asinigenitalis is a fastidious Gram-negative bacterium of the equine genital tract, found more commonly in donkeys than horses. Although considered non-pathogenic, it is closely related to Taylorella equigenitalis, the agent of contagious equine metritis, and has been linked to experimental and natural cases of endometritis. The SAFRAN project (French acronym for "Sauvegarde de la fertilité de l'âne", meaning "Preservation of donkey fertility"), launched in 2024 by the French National Research Institute for Agriculture, Food and Environment (INRAE) with support from the Centre-Val...
Genetic diversity of horses of the Sargarinsko-Alexeevskaya and Irmen cultures of the Ob-Irtysh region of Western Siberia and their genetic proximity to modern horses of indigenous breeds. Genetic diversity of horses of the Sargarinsko-Alexeevskaya and Irmen cultures of the Ob-Irtysh region of Western Siberia and their genetic proximity to modern horses of indigenous breeds. Генетическое разнообразие лошадей саргаринско-алексеевской и ирменской культур Западной Сибири и их генетическое родство с современными лошадьми аборигенных пород.
Comparative metagenomic analysis of gut microbiomes in Yunnan ponies and Dutch warmblood horses. The Yunnan pony is an officially protected pony breed in China. However, its gut microbiome characteristics remain largely unexplored. This study aimed to compare the gut microbiome and antibiotic resistance genes (ARGs) profiles between Yunnan ponies and Dutch warmblood horses. Unassigned: A total of 14 fresh fecal samples were collected from Yunnan ponies and Dutch warmblood horses. Metagenomic sequencing was employed to comprehensively analyze and compare the gut microbial composition, function, and ARGs profiles between the two breeds. Unassigned: The results showed no significant differen...
Genomic diversity of multidrug-resistant Rhodococcus equi: novel sequence types, pangenome architecture, and phylogenomic evolution. Rhodococcus equi is a major cause of life-threatening pneumonia in foals under 6 months of age and an opportunistic pathogen in immunocompromised humans. Although common in soil and equine farm environments, its evolutionary dynamics, virulence architecture, and pathways of antimicrobial resistance (AMR) emergence remain poorly understood. This study integrated phenotypic characterization and whole-genome sequencing of 46 R. equi isolates from horses submitted for necropsy (n = 45) and equine fecal samples (n = 1) in Kentucky between January 2022 and December 2023 to define their resistance la...
Cross-protective effect of a multicomponent fusion protein vaccine during a natural episode of Streptococcus zooepidemicus respiratory disease in ponies. Streptococcus equi subspecies zooepidemicus is a highly diverse opportunistic pathogen of horses, associated with respiratory disease and endometritis. Objective: To characterise S. zooepidemicus isolates recovered from young ponies during a natural episode of respiratory disease, and to determine if vaccination with Strangvac®, a vaccine against Streptococcus equi subspecies equi, conferred cross-protection. Methods: Retrospective analysis of a double-blinded placebo-controlled study involving 32 ponies (16 vaccinates and 16 placebo controls) that experienced a natural episode of respiratory...
Research Trends and Emerging Frontiers in Racehorse Genetics: A Bibliometric Analysis. The global horse racing industry relies heavily on elite breeding. Therefore, a molecular understanding of athletic traits is crucial for the industry's advancement. This study utilized Bibliometrix, VOSviewer, and CiteSpace to conduct a comprehensive bibliometric analysis of 869 publications in the Web of Science Core Collection (2011-2025), decoding the academic landscape and evolutionary trajectory of equine genetics. The results indicate a significant upward trend in academic output since 2019, with the United States, South Korea, and the United Kingdom emerging as the primary contributors...
Whole Genome Data Uncover the Complex Origins of Polish Konik Horses. Polish Konik is a native horse breed from Poland often regarded as living descendants of the extinct Tarpan, which has been crucial to the breed's conservation status and cultural importance. To evaluate Polish Konik origins, we sequenced 12 whole genomes and compared them with 148 horse genomes, including those of modern breeds, ancient Polish horses, Przewalski horses, and the Tarpan. The ADMIXTURE results showed that Polish Konik is dominated by a single ancestral component, which is also common among ancient Polish samples and several primitive breeds. The PCA places Polish Konik in a comp...
Extinct Dalian horse as a genetic bridge between Late Pleistocene North American and Eurasian equids. Pleistocene caballine horses exhibited considerable genetic diversity and maintained broad population connectivity across their range. The extinct Dalian horse (Equus dalianensis) from northeastern China likely contributed to this network. Here, we sequenced 20 complete mitochondrial and two nuclear genomes, establishing the Dalian horse as a distinct genetic clade within Northeast Eurasian caballines and extending its known geographic distribution. Ancestry component analyses revealed a distinctive component of Eastern Beringian (E-EBer), i.e. American ancestry in Dalian horses, absent from o...
Genome-Wide Association Study Reveals Genetic Loci Associated with Body Measurement Traits in Yanqi Horses. Body measurement traits are a direct production indicator reflecting growth status and guiding genetic selection. Identifying molecular markers associated with body measurement traits could accelerate animal breeding programs. The Yanqi horse, an important indigenous breed in Xinjiang, is primarily distributed in the Bayingolin Mongol Autonomous Prefecture. However, molecular markers linked to body measurement traits in Yanqi horses remain uncharacterized. In the present study, whole-genome resequencing was performed on 183 Yanqi horses, yielding 13,366,672 single-nucleotide polymorphisms (SNP...
Theileria equi sensu lato genetic diversity and phylogeny: new insights from mitochondrion, apicoplast and nucleus multilocus gene analysis. Equine piroplasmosis is a significant tick-borne disease with a global distribution. Among the two causative agents, Theileria equi has undergone numerous taxonomic reclassifications over time, reflecting advances in our understanding of its biology, molecular characteristics, and phylogenetic relationships. Formerly named Babesia equi, now classified in the Equus group apart from Babesia and Theileria species, its genus name will again certainly change. The genetic diversity also within T. equi lead to the renaming of one lineage as Theileria haneyi. Theileria equi should better now be consid...
A Genetic Algorithm-Based Approach for Quantitative Prediction of Drug-Drug Interactions Caused by Cytochrome P450 3A Inhibition or Induction in Horses. A genetic algorithm (GA)-based approach was designed to predict drug-drug interactions (DDIs) triggered by cytochrome P450 3A (CYP3A) inhibition or induction in horses. Area under the concentration-time curve ratios (AUCRs), obtained from published in vivo DDI studies in horses, were used to compute the following parameters: (1) the contribution ratio (CR), i.e., the fraction of the substrate dose metabolized via the CYP3A pathway, and (2) the interacting drug's inhibitory potency or inducing efficacy (IR or IC, respectively). AUCRs for 9 substrates, 12 inhibitors, and 1 inducer of equine C...
Genomics in Equine MEED: Whole-Genome Sequencing and Target Mutation Identification. Multisystemic eosinophilic epitheliotropic disease (MEED) is a rare and severe equine disorder characterized by chronic eosinophilic inflammation, epithelial disruption, and multi-organ involvement, with an undefined genetic basis. We performed the high-depth (~40×) whole-genome sequencing of an affected horse and compared it to 40 control genomes. Over 6.3 million variants were identified, with moderate- and high-impact variants enriched in low-frequency categories, including rare and private variants absent from the controls. The affected horse was dominated by missense mutations, with rela...
An intronic variant in Ferredoxin Reductase (FDXR) creates a cryptic exon in Quarter Horses with Equine Juvenile Spinocerebellar Ataxia. Equine Juvenile Spinocerebellar Ataxia (EJSCA) is a novel autosomal recessive neurologic disease in Quarter Horses. Affected foals display a progressive proprioceptive ataxia by 1-5 weeks of age, leading to recumbency and necessitating euthanasia. Whole genome sequencing was performed on 7 EJSCA cases and unaffected horses that included 4 obligate carriers, 4 unaffected half or full-siblings, and 28 unrelated, unaffected control Quarter Horses. An 82 kb region of association was identified (EquCab3.0, chr11: 6963986-7045999), containing 9 candidate SNPs across four genes (FADS6, FDXR, GRIN2C a...
Identification of gene conversion events in horse IGHV suggests preferential hotspots for diversification. The humoral immune response relies on a diverse antibody repertoire, which is expanded through processes such as somatic hypermutation, class-switch recombination and gene conversion. These processes are primarily mediated by activation-induced cytidine deaminase (AID). Gene conversion generates diversity in immunoglobulin heavy and light chains (IGHVs) in species such as chickens and rabbits, though it has not been widely studied. Since 80% of the equine IGHV repertoire originates from only three functional gene segments, we examined gene conversion events in horses to assess their role in an...
Unraveling the genomic architecture of hock conformation defects in Pura Raza Española horses. Conformational traits define a horse's shape and morphology, heavily influencing its functionality, sport performance, health, and appearance, making conformation a critical selection criterion in horse breeding. However, the genomic basis of conformational defects, specifically those affecting the hock, remains largely unexplored. This research aimed to identify the genomic regions associated with hock defects using a large cohort of Pura Raza Española (PRE) horses. A total of 58,930 horses were evaluated for hock angle, with 4,122 genotyped on high or medium density arrays. For this purpose...
Genetic diversity of Toxoplasma gondii isolates from members of the families camelidae and equidae worldwide: a systematic review. Toxoplasma gondii is an apicomplexan parasite with a global distribution and significant public health and veterinary treatment implications. The present systematic review collates worldwide information on the genotypic diversity of T. gondii isolates infecting Camelidae (camels, alpacas, llamas, etc.) and Equidae (horses, donkeys, zebras, mules, etc.) and highlights their potential role as sentinels of environmental contamination and zoonotic spread. An exhaustive literature search of six electronic databases (PubMed, Web of Science, Scopus, ProQuest, Science Direct, and Google Scholar) from ...
Telomere-to-telomere Genome Assembly of Equus kiang (Tibetan wild donkey). The Tibetan wild donkey (Equus kiang) is an endemic equid species inhabiting the Qinghai-Tibet Plateau, exhibiting remarkable chromosomal diversity within the Equus genus. Here we present a chromosome-level, telomere-to-telomere genome assembly for E. kiang generated using Illumina short reads, PacBio HiFi long reads, and Hi-C sequencing data. The final assembly spans 4.02 Gb and comprises 27 pseudochromosomes. Specifically, 8 chromosomes are gapless, 8 chromosomes have one gap, 7 chromosomes have 2-4 gaps, and the remaining 4 chromosomes have five or more gaps. Benchmarking Universal Single...
