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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.
Deficiency in homozygous haplotypes reveals recessive lethal variants affecting fertility and viability in the Friesian horse.
BMC genomics    March 11, 2026   doi: 10.1186/s12864-026-12728-5
No abstract available
Screening of Y-chromosomal STR loci and development of a multiplex PCR system for paternal lineage identification in horses.
Equine veterinary journal    March 10, 2026   doi: 10.1002/evj.70153
Li Y, Fu C, Yun X, Zhang H, Yang T, Feng M, Wang X, Qian S, Xing W, Yang R, Wu J, Liu Y, Zhao C.With growing demand for pedigree verification and breed management in horses (Equus caballus), reliable paternal lineage tools are essential. Y-chromosomal STRs (Y-STRs) have advantages over autosomal STRs due to paternal inheritance and lack of recombination. However, few validated loci and no standardised efficient genotyping systems limit their use. Current methods often require multiple reactions, increasing cost and labour. Thus, identifying informative Y-STR loci and developing a multiplex PCR system for cost-effective paternal lineage analysis is urgently needed. Objective: To identify ...
Genomic Epidemiology of Fungi Identified in Bronchoalveolar Lavage Fluid from Asthmatic Horses in the US.
Animals : an open access journal from MDPI    February 7, 2026   Volume 16, Issue 4 526 doi: 10.3390/ani16040526
Ivester K, Couetil L, Arora D, Wilkes R, Thimmapuram J.Fungal exposure is strongly implicated in the pathogenesis of asthma in horses, but the importance of specific fungi is unknown. Geographic variation in equine asthmatic endotypes is suspected and might be related to different fungal exposures due to different climatological and geographical conditions. This study had two objectives: evaluate the effect of the ecoregion upon BALF inflammatory cells and fungal community composition in horses with asthma and evaluate the effect of BALF fungal community composition upon the likelihood of neutrophilic, mastocytic and eosinophilic inflammation in t...
RNA-seq evaluation of equine alveolar macrophages and monocyte-derived macrophages exposed to an inflammatory stimulus (short communication).
BMC veterinary research    February 6, 2026   Volume 22, Issue 1 161 doi: 10.1186/s12917-026-05322-0
Kang H, Lee GKC, Bienzle D, Hammermüller J, Arroyo LG, Lillie BN, Beeler-Marfisi J.Macrophage populations in the lung, including resident alveolar macrophages (AMs) and recruited monocyte-derived macrophages (MDMs), recognize the inhaled particulates in barn dust that cause severe equine asthma and orchestrate an immune response though the cytokines they produce. Despite their importance, the specific contributions of these macrophage subsets to lower airway inflammation remain poorly understood. This exploratory in vitro study investigated the likely contributions of AMs and MDMs from healthy horses to the early inflammatory response using RNA-seq. If biologically importan...
Correction: Wang et al. Multi-Omics Analysis Reveals Biaxial Regulatory Mechanisms of Cardiac Adaptation by Specialized Racing Training in Yili Horses. Biology 2025, 14, 1609.
Biology    January 23, 2026   Volume 15, Issue 3 209 doi: 10.3390/biology15030209
Wang T, Li M, Ren W, Meng J, Yao X, Chu H, Yao R, Zhai M, Zeng Y. [...].
Genome-Wide DNA Methylation Analysis of Performance Variation in the 5000-m Speed Race of Yili Horses.
Animals : an open access journal from MDPI    January 19, 2026   Volume 16, Issue 2 302 doi: 10.3390/ani16020302
Shan D, Yao X, Ren W, Huang Q, Su Y, Li Z, Li L, Wang R, Ma S, Wang J.Whole-genome bisulfite sequencing (WGBS) was employed in this article to map blood DNA methylation profiles at single-base resolution in Yili horses before a 5000 m speed race, with comparative analysis of epigenetic differences between the 'elite group' and 'ordinary group' across six four-year-old stallions. The overall methylation level in the elite group was generally higher than that in the ordinary groups, with a minority of regions showing hypomethylation. For instance, the promoter regions of key metabolic and neuro-related genes exhibited significant hypomethylation. The article ident...
Differential Expression and Analysis of TBX3 Gene in Skin Tissues of Dun Mongolian Horses with and Without Bider Markings.
Animals : an open access journal from MDPI    January 18, 2026   Volume 16, Issue 2 297 doi: 10.3390/ani16020297
An T, Dugarjaviin M.(1) Background: The dun coat color, a wild-type phenotype in horses characterized by pigment dilution and primitive markings, is regulated by . This study explored the expression and localization of in the Bider marking (a primitive mark unique to the shoulder of horses); (2) Methods: We compared skin tissues from Bider-marked and non-Bider dun Mongolian horses. Samples were collected from the Bider area (dark-colored/light-colored shoulder), dorsal midline, and croup. Histological staining, qRT-PCR, and Western blotting were used to analyze pigment distribution and expression at mRNA and pr...
Sequencing and Analysis of mtDNA Genomes from the Teeth of Early Medieval Horses in Poland.
Genes    January 18, 2026   Volume 17, Issue 1 95 doi: 10.3390/genes17010095
Pasicka E, Baca M, Popović D, Makowiecki D, Janeczek M.This study presents the sequencing and analysis of mitochondrial DNA (mtDNA) genomes from nine early medieval horse remains excavated across archaeological sites in Silesia region in present day Poland. Methods: Using aDNA extraction protocols optimized for short fragments, combined with target enrichment and high-throughput sequencing, we reconstructed partial mtDNA sequences for seven of the specimens. Results: The authenticity of the aDNA was confirmed through damage pattern analysis. Phylogenetic reconstruction revealed that the specimens belonged to six distinct mtDNA lineages (B, D, E, G...
Review: Genomic insights into the adaptive traits and stress resistance in modern horses.
Stress biology    January 12, 2026   Volume 6, Issue 1 5 doi: 10.1007/s44154-025-00274-1
Jafari H, Abebe BK, Cong L, Ahmed Z, Zhaofei W, Sun M, Muhatai G, Chuzhao L, Dang R.The domestication and selective breeding of horses have profoundly influenced the emergence of adaptive traits and stress resistance mechanisms, shaping modern equine populations. This comprehensive review examines the genomic foundations of these traits, emphasizing recent advancements in high-throughput sequencing technologies and bioinformatics. These tools have elucidated the genetic underpinnings of key characteristics such as endurance, speed, metabolic efficiency, and disease resistance. Importantly, the review identifies and connects gene variants associated with thermoregulation, immu...
Transcriptome Sequencing and Differential Analysis of Testes of 1-Year-Old and 3-Year-Old Kazakh Horses.
Biology    January 4, 2026   Volume 15, Issue 1 100 doi: 10.3390/biology15010100
Liu J, Yang Y, Wen L, Wen M, Zeng Y, Ren W, Yao X.The Kazakh horse is an outstanding dual-purpose dairy and meat breed in China, characterized by early maturity, tolerance to coarse feed, and strong stress resistance. Previous studies have examined gene expression patterns in the testicular tissues of Kazakh horses at different age stages, but the molecular mechanisms regulating testicular sexual maturation remain unclear. To address this gap, this study conducted HE staining and in-depth transcriptome sequencing analysis of Kazakh horse testicular tissue before and after sexual maturity. HE staining showed that the G3 group had well-formed s...
Charting the equine miRNA landscape: An integrated pipeline and browser for annotating, quantifying, and visualizing expression.
PLoS genetics    September 5, 2025   Volume 21, Issue 9 e1011835 doi: 10.1371/journal.pgen.1011835
Cullen JN, Cieslak J, Petersen JL, Bellone RR, Finno CJ, Kalbfleisch TS, Calloe K, Capomaccio S, Cappelli K, Coleman SJ, Distl O, Durward-Akhurst SA....MicroRNAs (miRNAs) are essential regulators of gene expression, yet few comprehensive databases exist for miRNA expression in non-model species, limiting our ability to characterize their roles in gene regulation, development, and disease. Similarly, isomiRs - length and sequence isoforms of canonical miRNAs with potentially altered regulatory targets and functions - have received even less attention in non-model species, including the horse, leaving a critical gap in our understanding of their biological significance. To address these challenges, we developed an open-source, containerized pip...
Detection of Neorickettsia risticii in antemortem fecal and postmortem fetal samples, with genomic insights from complete genome sequencing of a strain recovered from an aborted equine fetus.
Veterinary microbiology    September 2, 2025   Volume 310 110705 doi: 10.1016/j.vetmic.2025.110705
Uprety T, Durazo J, Paul L, Metiner K, Ruby R, Loynachan A, Janes J, Kenndy L, Cassone L, Molly E, Quick M, Morgan J, Beyhan S, Erol E.Neorickettsia risticii (N. risticii) is an obligatory intracellular bacterium that causes Potomac horse fever (PHF), a disease clinically characterized by diarrhea, pyrexia, and laminitis in horses. Although sporadic reports of N. risticii infection have been linked to abortion in mares, a detailed retrospective study, including genomic analysis of the pathogen from an aborted fetus, has not been published. This study examined 546 fecal samples from clinically ill horses (January 1, 2017-December 31, 2024) and 833 colon samples from aborted equine fetuses (September 20, 2018-December 31, 2024)...
High-quality, haplotype-resolved reference genomes of the Dutch warmblood horse and Friesian horse using trio binning.
BMC genomics    September 1, 2025   Volume 26, Issue 1 790 doi: 10.1186/s12864-025-11985-0
Steensma MJ, Ducro BJ, Dibbits B, Doekes HP, van Schipstal JGC, Kalblfleisch T, Groenen MAM, Derks MFL.In horses, genetic diversity is predominantly observed between breeds, with little variation within breeds. The studbooks of the two largest horse populations in the Netherlands, the Dutch Warmblood horse and Friesian horse population, have ongoing conservation projects including collecting large-scale genotype and sequence data. The current reference genome, derived from a Thoroughbred horse can lead to bias in genetic analyses of other horse breeds. Therefore, the aim of this study was to create high-quality breed-specific reference genomes of Dutch Warmblood and Friesian horses. We performe...
Mutation rate and spectrum of germline de novo mutations in a closed population of Thoroughbred horses.
Journal of equine veterinary science    September 1, 2025   Volume 154 105682 doi: 10.1016/j.jevs.2025.105682
Furukawa R, Tozaki T, Mizukami K, Iwasaki Y, Kawate K, Kikuchi M, Ishige T, Momozawa Y, Fukui E, Kakoi H.Thoroughbreds have been maintained as a closed breed for over 300 years since the crossbreeding between Arabian stallions and English mares. Despite interest in germline de novo mutations across species, their frequency in horses, particularly in Thoroughbreds, remains largely unexplored. Objective: This study aimed to identify de novo mutations in Thoroughbreds and estimate their frequency within a genetically closed population. Methods: We performed deep whole-genome sequencing (≥230× depth, 150 bp paired-end reads) and Sanger validation in a Thoroughbred trio (sire, dam, and foal). Reads...
The rise of rideable horses.
Science (New York, N.Y.)    August 28, 2025   Volume 389, Issue 6763 874-875 doi: 10.1126/science.aea6151
Frantz L.Early horse riders selected a rare mutation in a single gene to enhance rideability.
Decoding the amniotic membrane transcriptome during equine ascending placentitis.
Scientific reports    August 21, 2025   Volume 15, Issue 1 30714 doi: 10.1038/s41598-025-16671-5
Marchio SP, El-Sheikh Ali H, Scott MA, Barbosa Fernandes C, Scoggin KE, Troedsson M, Boakari Y.Despite its critical role in protecting the fetus, the amniotic membrane remains poorly understood in the context of disease response. The equine amniotic membrane is an important physical barrier to the amniotic compartment, and there is evidence that it may contribute to surfactant synthesis. Surfactants are essential for normal fetal lung development, and disruptions in its availability may be linked to future neonatal complications. Therefore, understanding the molecular changes that occur in fetal-maternal tissues during placentitis would clarify how this condition leads to abortion, pret...
Role of Endoplasmic Reticulum Stress-Associated Genes in Septic Neonatal Foals.
Antioxidants (Basel, Switzerland)    August 21, 2025   Volume 14, Issue 8 1024 doi: 10.3390/antiox14081024
Sahoo DK, Wong D, Paital B, Ruby RE, Patel A.The progression of inflammation during sepsis represents a multifaceted biological cascade that requires effective therapeutic interventions to improve survival. In septic neonatal foals, oxidative stress (OS) arises due to a compromised antioxidant defense system. Oxidative stress may disrupt the functionality of redox-sensitive organelles, such as the endoplasmic reticulum (ER). Endoplasmic reticulum stress disorder affects multiple cellular signaling pathways, including redox balance, inflammation, and apoptosis, and contributes to the pathogenesis of sepsis. The study aimed to elucidate wh...
RNA-seq analysis identifies key genes enhancing hoof strength to withstand barefoot racing in Standardbred trotters.
BMC genomics    August 18, 2025   Volume 26, Issue 1 751 doi: 10.1186/s12864-025-11814-4
Schwochow D, Alameddine A, Spörndly-Nees E, Montigny M, Naboulsi R, Jansson A, Niazi A, Lindgren G.Racing without protective shoes is common in the Swedish harness racing industry, as it can enhance horses' performance on the track. Trainers typically decide whether a horse will race barefoot based on practical experience rather than objective measures. However, this practice can sometimes lead to excessive hoof wear, posing potential welfare concerns for racing horses. Gene expression differences may help reveal the underlying genetic mechanisms associated with different phenotypic traits. To explore an objective measure for assessing which horses are best suited for barefoot racing, we co...
Identification of a Novel Haplotype Associated with Roan Coat Color in American Quarter Horses.
Animals : an open access journal from MDPI    August 14, 2025   Volume 15, Issue 16 2386 doi: 10.3390/ani15162386
Everts RE, Caron R, Foster G, McLoone K, Simiele L, Martin K, Brooks SA, Lafayette C.Roan coat color is described as the dispersion of white hairs within an otherwise solid background-color coat. This phenotype is primarily expressed on the body of the horse, with the head and legs exhibiting few or no white hairs. Previous studies mapped the locus for roan to the region and observed linked variants in a small number of breeds. Recently, we reported evidence for two independent haplotypes, and , in the region, which account for approximately 38% and 36% of roan horses, respectively. In the current report, using whole genome sequencing for unknown roan samples. We present a ...
LMF1 frameshift deletion in Franches-Montagnes horses with hypertriglyceridemia-induced pancreatitis.
Scientific reports    August 6, 2025   Volume 15, Issue 1 28667 doi: 10.1038/s41598-025-13954-9
Drögemüller M, Fouché N, Wyler M, Gurtner C, Meister SL, Neuditschko M, Jagannathan V, Gerber V, Leeb T.Hypertriglyceridemia (HTG) may be inherited and caused by variants in genes encoding enzymes of lipid metabolism. This study was prompted by the observation of eight Franches-Montagnes (FM) foals showing elevated plasma triglyceride levels and episodes of fatal acute pancreatitis. We termed this phenotype hypertriglyceridemia-induced pancreatitis (HIP). The affected foals were distantly related and inbred to a prominent stallion suggesting autosomal recessive inheritance. Whole genome sequencing of an affected foal identified a homozygous loss of function variant in LMF1 encoding lipase matura...
Comparative Transcriptome and MicroRNA Profiles of Equine Mesenchymal Stem Cells, Fibroblasts, and Their Extracellular Vesicles.
Genes    August 5, 2025   Volume 16, Issue 8 936 doi: 10.3390/genes16080936
Sawicki S, Bugno-Poniewierska M, Żurowski J, Szmatoła T, Semik-Gurgul E, Bochenek M, Karnas E, Gurgul A. Mesenchymal stem cells (MSCs) are a promising tool in regenerative medicine due to their ability to secrete paracrine factors that modulate tissue repair. Extracellular vesicles (EVs) released by MSCs contain bioactive molecules (e.g., mRNAs, miRNAs, proteins) and play a key role in intercellular communication. This study compared the transcriptomic profiles (mRNA and miRNA) of equine MSCs derived from adipose tissue (AT-MSCs), bone marrow (BM-MSCs), and ovarian fibroblasts (as a differentiated control). Additionally, miRNAs present in EVs secreted by these cells were characterized using nex...
The genomic history of Iberian horses since the last Ice Age.
Nature communications    August 2, 2025   Volume 16, Issue 1 7098 doi: 10.1038/s41467-025-62266-z
Horses have inhabited Iberia (present-day Spain and Portugal) since the Middle Pleistocene, shaping a complex history in the region. Iberia has been proposed as a potential domestication centre and is renowned for producing world-class bloodlines. Here, we generate genome-wide sequence data from 87 ancient horse specimens (median coverage = 0.97X) from Iberia and the broader Mediterranean to reconstruct their genetic history over the last ~26,000 years. Here, we report that wild horses of the divergent IBE lineage inhabited Iberia from the Late Pleistocene, while domesticated DOM2 horses, nati...
Isolation, identification and comparative genomic analysis of Lactobacillus salivarius from Mongolian horse vagina.
Frontiers in microbiology    July 31, 2025   Volume 16 1635639 doi: 10.3389/fmicb.2025.1635639
Zhao Y, Liu Y, Tao J, Cao J, Lin Y, He Q, Fang X, Yun S, Du M, Su S, Bao T, Bai D, Zhang X, Dugarjaviin M.Reproductive health in mares is pivotal for the sustainability of the equine industry, yet vaginal microbiota dysbiosis remains an underrecognized contributor to infections such as endometritis and bacterial vaginosis. While spp. dominate healthy vaginal ecosystems in humans and livestock, their role in equine reproductive health, particularly in resilient breeds like Mongolian mares, is poorly understood. This study aimed to isolate and characterize a novel strain from the vaginal microbiota of healthy Mongolian mares and evaluate its probiotic potential for mitigating equine reproductive d...
Population structure and signature of selection for body size in some Iranian and exotic horse breeds.
Journal of equine veterinary science    July 29, 2025   Volume 152 105658 doi: 10.1016/j.jevs.2025.105658
Bazvand B, Rashidi A, Zandi MB, Moradi MH, Rostamzadeh J, Mahmoudi P.Iran is home to genetically distinct horse breeds shaped by geography and history. Breeds like the Kurdish, Caspian pony, and Turkmen reflect deep-rooted diversity and unique adaptive traits. Objective: This study aimed to identify genomic regions exhibiting signatures of selection and to detect candidate genes and biological pathways related to body size that may influence performance in various Iranian and exotic horse breeds. Methods: Samples were collected from three Iranian native breeds (Caspian pony, Turkmen, and Kurdish) and three exotic breeds (Fell pony, Arabian, and Akhal-Teke) orig...
Transcriptomic sequencing and differential analysis of Kazakh horse muscles from various anatomical locations.
Frontiers in veterinary science    July 24, 2025   Volume 12 1633786 doi: 10.3389/fvets.2025.1633786
Wubulikasimu M, Liu J, Yao X, Meng J, Wang J, Zeng Y, Li L, Ren W.Kazakh horses, a distinguished breed in China known for their dual-purpose use in milk and meat production, exhibit early maturation, tolerance to coarse feeding, and strong resistance to environmental stress. However, the gene expression differences across various muscle tissues of Kazakh horses have yet to be elucidated. In this study, transcriptomic sequencing was performed on muscle tissues from three anatomical regions of Kazakh horses, including the longissimus dorsi (Gb), external oblique (Gf), and diaphragm (Gg) muscles. In the Gb and Gf groups, 426 differentially expressed genes (DEGs...
Differential analysis of testicular LncRNA in Kazakh horses of different ages.
International journal of biological macromolecules    July 22, 2025   146228 doi: 10.1016/j.ijbiomac.2025.146228
Lu Z, Wen M, Yao X, Meng J, Wang J, Zeng Y, Li L, Ren W.The reproductive performance of horses is closely associated with testicular development, which involves a complex network of gene regulation. The molecular mechanisms underlying the reproductive traits of Kazakh horses are yet to be fully understood. In this study, transcriptomic analysis was performed on testicular tissues from Kazakh horses at different developmental stages using whole-transcriptome sequencing, aiming to investigate differential gene expression and regulatory mechanisms during testicular development. The results revealed significant differential expression of 7678 mRNAs, in...
Multi-host distribution of Rhodococcus equi (Prescottella equi) strains and their phylogenomic clustering.
BMC microbiology    July 21, 2025   Volume 25, Issue 1 447 doi: 10.1186/s12866-025-04152-8
Ghielmetti G, Stevens MJA, Schmitt S, Kittl S, Cernela N, Biggel M, Schulthess B, Keller PM, Schrenzel J, Stephan R.Rhodococcus equi is an intracellular bacterial pathogen that can cause infections in various hosts, including humans and animals. Host-associated virulence plasmids have been identified as key contributors to the pathogenicity of R. equi and potentially play a role in determining the host tropism of the bacteria. The investigation of additional clinical and environmental isolates is likely to provide novel insights into the population structure, infection pathways, and drug resistance of this important pathogen. We combined whole-genome sequencing and antimicrobial-susceptibility testing of 37...
Unwelcome neighbours: Tracking the transmission of Streptococcus equi in the United Kingdom horse population.
Equine veterinary journal    July 20, 2025   doi: 10.1111/evj.14558
McGlennon AA, Verheyen KL, Newton JR, van Tonder A, Wilson H, Parkhill J, de Brauwere N, Frosth S, Waller AS.Strangles (Streptococcus equi infection) remains endemic in the UK, with ~300 laboratory diagnoses annually. Sub-clinically infected long-term carriers are considered a key driver of endemicity. Analysing genomes of circulating strains could provide valuable transmission insights of this pathogen. Objective: To determine the population structure and diversity of UK S. equi isolates and to model transmission using epidemiological and whole genome sequencing data. Methods: Retrospective cross-sectional epidemiological and genomic surveillance. Methods: A dated phylogenetic tree derived from 511â...
Preliminary investigation of the effect of ferulic acid on miRNAs and LncRNAs in Mongolian horse skeletal muscle satellite cells.
Frontiers in genetics    July 18, 2025   Volume 16 1630614 doi: 10.3389/fgene.2025.1630614
Gong W, Ding W, Bou T, Shi L, Lin Y, Shi X, Li Z, Wu H, Dugarjaviin M, Bai D.Ferulic acid (FA), a natural antioxidant, has attracted considerable attention for its regulatory potential in skeletal muscle development, energy metabolism, and muscle fiber type transformation. Unassigned: This study established a research system based on Mongolian horse skeletal muscle satellite cells to elucidate the molecular basis by which ferulic acid regulates muscle fiber type transformation through a non-coding RNA interaction network. Unassigned: A total of 18 differentially expressed miRNAs (DEMIRs) and 128 differentially expressed lncRNAs (DELs) were identified through transcript...
Analysis of ROH Characteristics Across Generations in Grassland-Thoroughbred Horses and Identification of Loci Associated with Athletic Traits.
Animals : an open access journal from MDPI    July 13, 2025   Volume 15, Issue 14 2068 doi: 10.3390/ani15142068
Ding W, Gong W, Bou T, Shi L, Lin Y, Shi X, Li Z, Wu H, Dugarjaviin M, Bai D.The core objective of racehorse breeding is to enhance the speed and endurance of the horses. The Grassland-Thoroughbred is an emerging horse breed developed in northern China in recent years, characterized by excellent speed performance, enduring stamina, and strong environmental adaptability. However, research on the genetic characteristics within this breed and the genes associated with athletic performance remains relatively limited. We conducted whole-genome resequencing of Grassland-Thoroughbred F1, F2, F3, and the crossbred population (CY) and obtained a total of 4056.23 Gb of high-qual...
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