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Topic:Genetics

Genetics in horses encompasses the study of hereditary traits and the genetic makeup that influences various characteristics and health conditions in equine populations. This field involves the analysis of genes and their functions, inheritance patterns, and the impact of genetic variations on traits such as coat color, performance ability, and susceptibility to diseases. Research in equine genetics employs techniques such as genome mapping, sequencing, and genetic testing to identify specific genes and mutations associated with these traits. This page gathers peer-reviewed research studies and scholarly articles that explore the genetic basis of equine traits, the methodologies used in genetic research, and the implications for breeding, health management, and conservation of horse breeds.
miRNAS and target genes are regulated post-training in quarter horse athletes.
Journal of equine veterinary science    January 20, 2026   Volume 158 105787 doi: 10.1016/j.jevs.2026.105787
Amaral TM, Ramos PDCA, Silva RA, Ferreira MM, Filho EDS.In the context of Brazilian equestrian sports, the Quarter Horse (QH) breed has the third largest population of registered horses and stands out for its numerous abilities in various disciplines. Studies on equine health and athletic performance parameters are scarce, especially involving molecular markers. Objective: This study aimed to investigate the differential expression of microRNAs and target genes involved in metabolic pathways of exercise and to assess hematological and clinical changes in 10 horses (Equus caballus Linnaeus) of the QH breed under different physiological conditions. H...
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...
Genetic and phenotypic insights into thermal load and racing performance of Quarter Horses.
Journal of thermal biology    December 29, 2025   Volume 136 104362 doi: 10.1016/j.jtherbio.2025.104362
Santana ML, Bignardi AB, Faria RAS, Silva JAIV.Thermal load is a major welfare and performance concern for athletic horses, as physical exertion increases internal heat production. Although several phenotypic strategies have been developed to mitigate its effects, the genetic basis of thermal tolerance in horses remains largely unexplored. This study aimed to (1) evaluate the influence of thermal indices on the racing performance of Brazilian Quarter Horses, and (2) investigate the genetic basis of thermal tolerance through the estimation of genetic parameters across temperature gradients. We analyzed 21,857 racing-time (RT) records from 5...
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...
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...
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...
Phenotypic Associations Between Linearly Scored Traits and Sport Horse Auction Sales Price in Ireland.
Animals : an open access journal from MDPI    July 29, 2025   Volume 15, Issue 15 2227 doi: 10.3390/ani15152227
Corbally AF, Mulligan FJ, Sweeney T, Fahey AG.This study examines the associations between linearly scored phenotypic traits and auction sales prices of young event horses in Ireland, aiming to identify key traits influencing market value. Data from 307 horses sold at public auctions (2022-2023) were analysed using regression analysis, binary optimisation, and Principal Component Analysis (PCA). Regression identified Head-neck Connection, Quality of Legs, Walk length of Stride, and Scope as highly significant predictors of sales price ( < 0.001), with Length of Croup, Trot Elasticity, Trot Balance, and Take-off Direction also significa...
To Start or Not to Start-A Matter of Genetics in Swedish Warmblood Horses? Gelinder Viklund Ã…, Blom Y, Eriksson S.The breeding goal of the Swedish Warmblood horse (SWB) is to produce internationally competitive horses in dressage and show jumping. In the current genetic evaluation, breeding values are estimated in multiple-trait animal models where competition performance is the target trait and results from two different young horse tests serve as indicator traits. However, preselection of horses, both for young horse tests and for competitions, is not considered in the current evaluation. The overall aim of this study was to analyse the all-or-none trait start status, in competition and in young horse t...
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...
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...
The first mitogenome of Petrovinema skrjabini from Equus ferus przewalskii: a phylogenetic analysis within the Strongylidae family.
Parasites & vectors    July 11, 2025   Volume 18, Issue 1 278 doi: 10.1186/s13071-025-06851-7
Jia H, Tang L, Fu Y, Xiong Y, Yan L, Shao C, Li K, Zhang D, Hu D.Petrovinema skrjabini (Nematoda: Strongylidae, Cyathostominae) is a parasitic nematode colonizing the cecum and colon of equids. Like other cyathostomins, its larvae (L3) invade the intestinal mucosa, forming encysted nodules that may remain dormant for years. Mass larval emergence triggers larval cyathostominosis-a severe syndrome characterized by hemorrhagic typhlocolitis and diarrhea, with mortality rates exceeding 50%. However, owing to the morphological indistinguishability of cyathostomin and frequent mixed infections in natural settings, species-specific contributions to pathogenesis re...
Influence of Pregnancy on Whole-Transcriptome Sequencing in the Mammary Gland of Kazakh Mares.
Animals : an open access journal from MDPI    July 11, 2025   Volume 15, Issue 14 2056 doi: 10.3390/ani15142056
Zhang Z, Lu Z, Yao X, Li L, Meng J, Wang J, Zeng Y, Ren W.Kazakh mares have drawn significant attention for their outstanding lactation traits. Lactation, a complex physiological activity, is modulated by multiple factors. This study utilized high-throughput sequencing to conduct whole-transcriptome sequencing analysis on the mammary gland tissue of eight Kazakh mares, of which four were pregnant and four were non-pregnant, to systematically reveal the molecular regulatory mechanisms. The results showed differential expression in 2136 mRNAs, 180 lncRNAs, 104 miRNAs, and 1162 circRNAs. Gene ontology functional annotation indicates that these different...
Gray-Horse Melanoma-A Wolf in Sheep’s Clothing.
International journal of molecular sciences    July 10, 2025   Volume 26, Issue 14 6620 doi: 10.3390/ijms26146620
Brodesser DM, Schlangen K, Rodríguez-Rojas A, Kuropka B, Doulidis PG, Brandt S, Pratscher B.Malignant melanoma (MM) affects not only humans but also animals, with gray horses being particularly predisposed to acquiring the disease. Multiomics have greatly advanced the understanding of human MM. In contrasty little is known regarding the pathogenesis of gray-horse melanoma and the unique phenomenon of melanoma "dormancy" in some animals. To help close this gap in knowledge, melanoma tissue and intact skin collected from gray horses were subjected to transcriptome analysis using RNAseq. In the next step, cultured primary tumor cells and normal skin fibroblasts were established from gra...
Equine Parvovirus-Hepatitis Population Dynamics in a Single Horse over 16 Years.
Viruses    July 4, 2025   Volume 17, Issue 7 947 doi: 10.3390/v17070947
Scupham AJ.Many viruses mutate rapidly to adapt to host defenses, and for some of these viruses, the result is long-term infection in individual hosts. The work described here examines the infection and long-term maintenance of a newly identified virus, equine parvovirus-hepatitis (EqPV-H), in an individual horse. This description is possible because of a hypervariable region in the capsid gene; sequence variants were tracked by high-throughput sequencing of serum samples taken over a 16-year period. The data support the hypothesis that EqPV-H infection resulted in a sequence variant bottleneck. The cont...
Effect of Pre-IVM Duration with cAMP Modulators on the Production of Cloned Equine Embryos and Foals.
Animals : an open access journal from MDPI    July 3, 2025   Volume 15, Issue 13 1961 doi: 10.3390/ani15131961
Cortez JV, Hardwicke K, Méndez-Calderón CE, Grupen CG.The asynchrony of cytoplasmic and nuclear maturation in cumulus-oocyte complexes (COCs) due to prematurely declining concentrations of cyclic adenosine monophosphate (cAMP) has been shown to result in reduced oocyte developmental competence. The objective of this study was to evaluate the effect of pre-IVM treatment with cAMP modulators for different durations on the developmental potential of equine oocytes used for cloned embryo production. Collected COCs were transferred to cryovials filled with transport medium at 20-22 °C. Within the cryovials, the COCs were either untreated (Control) fo...
CENP-A and centromere evolution in equids. While the centromeric function is conserved and epigenetically specified by CENP-A, centromeric DNA, typically composed of satellite repeats, is highly divergent and rapidly evolving. In the species of the genus Equus (horses, asses and zebras), also known as equids, the numerous centromeres devoid of satellite repeats enabled us to carry out molecular analysis of centromeric chromatin establishing a unique model system for mammalian centromere biology. In this review, after a brief description of the rapid evolution of equids, we outline one of our most relevant initial discoveries: the posit...
Comparative genomic and virulence analyses of a novel sequence type 420 Streptococcus equi subspecies zooepidemicus isolated from donkey.
Virulence    June 29, 2025   Volume 16, Issue 1 2525964 doi: 10.1080/21505594.2025.2525964
Tian Y, Su Y, Jiang X, Su L, Zhang B, Lv F.The zoonotic pathogen subspecies (SEZ) frequently colonizes equines harmlessly but can occasionally cause disease or cross species barriers. Currently, growing evidence suggests SEZ can lead to severe clinical manifestations in horses and other animals, posing a threat to human and companion animal health. In this study, we sequenced the complete genome of the SEZ strain HT321, a novel sequence type 420 isolated from a donkey with a respiratory infection in China. Subsequently, we conducted comparative genomics, core genome single nucleotide polymorphisms (cgSNP), phylogenetic analysis multi...
Using STR Data to Investigate the Impact of the Studbook Cap on Genetic Diversity in the American Standardbred Horse from 1998 to 2021.
Genes    June 27, 2025   Volume 16, Issue 7 748 doi: 10.3390/genes16070748
Avila F, Esdaile E, Bellone RR. Standardbreds, a breed of horses used in harness racing at either the trot or the pace, established a closed studbook in 1973. Concerns about genetic diversity within the breed led the United States Trotting Association (USTA) to establish a limit of mares bred per stallion (i.e., a studbook cap) in 2009. Here, we aimed to evaluate the impact of the breeding restrictions on genetic diversity between and among subpopulations. : Sixteen short tandem repeats (STRs) were analyzed across a dataset of 176,424 Standardbreds foaled in the United States between 1998 and 2021. We examined allelic richn...
Detection using chamber digital PCR with a DNA extraction-free method for gene-doping control.
Forensic science international    June 25, 2025   Volume 374 112545 doi: 10.1016/j.forsciint.2025.112545
Furukawa R, Tozaki T, Kawate K, Kikuchi M, Ishige T, Takahashi Y, Fukui E, Kakoi H.Gene doping, which entails the administration of transgenes, poses a serious threat to the integrity of equine sports and also raises both ethical and regulatory concerns. Current methods used for the detection of such doping often necessitate the extraction of DNA from plasma, which can be time-consuming and labour-intensive. To overcome this limitation, we developed a direct chamber digital PCR (cdPCR) method that enables transgene detection in equine plasma without the need for DNA purification. Using the equine erythropoietin (EPO) transgene as a model, we validated the assay by analysing ...
Two Cases of Chromosome 27 Trisomy in Horses Detected Using Illumina BeadChip Genotyping.
Animals : an open access journal from MDPI    June 22, 2025   Volume 15, Issue 13 1842 doi: 10.3390/ani15131842
Ryan CA, Berry DP, Bugno-Poniewierska M, Burke MK, Raudsepp T, Egan S, Doyle JL.Autosomal trisomy, a genetic disorder characterized by the presence of an extra autosome, is a rare but important chromosomal abnormality in horses, often associated with infertility, developmental abnormalities, and reduced life expectancy. This study represents the largest population-level screening for autosomal trisomy in horses; the analysis used single nucleotide polymorphism (SNP) panel genotype intensity data from 17,078 horses, 6601 of which were juveniles (i.e., ≤12 months of age) when genotyped. Using methodologies adapted from similar screening studies in cattle, the only aneuplo...
Haplotype structure and heterozygosity around the fragile foal syndrome variant in Swedish Warmblod horses.
Animal genetics    June 17, 2025   Volume 56, Issue 3 e70022 doi: 10.1111/age.70022
Ablondi M, Eriksson S, Mikko S.Fragile foal syndrome (FFS) is a disease caused by a recessive lethal missense mutation in the PLOD1 gene located on ECA2. Despite its harmful effect, a relatively high frequency of FFS carriers was observed in Warmblood breeds spanning from 7.4% in a random sample of Swedish Warmblood breed to 17% in the Hanoverian and Danish Warmblood, indicating potential heterozygous advantage. Balancing selection can be further studied based on haplotype blocks and via detection of heterozygosity-rich region (ROHet) around the target of selection. In this study we evaluated the presence of haplotype block...
Correction: Expression of genes with biomarker potential identified in skin from DSLD-affected horses increases with age.
PloS one    June 16, 2025   Volume 20, Issue 6 e0326448 doi: 10.1371/journal.pone.0326448
Roberts JH, Zhang J, David F, McLean A, Blumenshine K, Müller-Alander E, Halper J.[This corrects the article DOI: 10.1371/journal.pone.0287740.].
Equine MicroRNAs: Performance, Reproduction, and Disease.
MicroRNA (Shariqah, United Arab Emirates)    June 16, 2025   doi: 10.2174/0122115366369721250606113102
Herkenhoff ME.MicroRNAs (miRNAs) are molecules that regulate gene expression by targeting the 3' untranslated region (UTR) of mRNAs. They are essential in numerous biological processes like growth, metabolism, and muscle development. miRNA research has become crucial in livestock breeding, offering solutions for improving animal health and productivity. This review focuses on miRNAs' roles in equine performance, reproduction, and disease, highlighting key findings and future applications in these areas. It discusses the use of circulating miRNAs (ci-miRNA) as biomarkers for athletic performance, particularl...
Preimplantation genetic testing in horses: biopsy of Piezo-ICSI embryos for sex, coat color, and disease alleles.
Theriogenology    June 11, 2025   Volume 246 117525 doi: 10.1016/j.theriogenology.2025.117525
Barandalla M, Colleoni S, Perota A, Galli C, Lazzari G.The introduction of ovum pick-up, Intracytoplasmic Sperm Injection (ICSI) and in vitro embryo production in equine reproduction offers significant advantages, including overcoming infertility, high blastocyst yields, embryo cryopreservation, and preimplantation genetic testing (PGT) by collecting few cells extruded spontaneously during embryo growth using a mouth pipette. PGT enables embryo selection before transfer and is particularly useful in breeds with a preference for specific offspring genders, coat color, and detecting genetic diseases. Here, we present the first large-scale validation...
Genetic relationship between Neck and Limb defects in Pura Raza Española Horses.
Journal of equine veterinary science    June 10, 2025   Volume 151 105630 doi: 10.1016/j.jevs.2025.105630
Ripollés-Lobo M, Perdomo-González DI, Dos Santos R, Sánchez-Guerrero MJ, Azor P, Valera M.Neck and limb conformational defects can impair functionality and performance in Pura Raza Española (PRE) horses. However, their potential genetic relationship has not been previously explored. Objective: To estimate the genetic correlations between two types of neck defects (Cresty neck -CN-, Ewe neck -EN-) and twelve conformational limb defects: Forelimb (Buck knee -BUK-, Calf knee -CK-, Bench knee -BEK-, Knock knee -KK-, Splay-footed forelimb -SFF-, Pigeon-toed forelimb -PTF-), rear limb (Closed hock -CH-, Open hock -OH-, Convergent hock -CVH-, Divergent hock -DVH-, Splay-footed rear limb ...
Identification of Two Genetic Haplotypes Associated with the Roan Coat Color in the American Quarter Horse and Other Equine Breeds.
Animals : an open access journal from MDPI    June 9, 2025   Volume 15, Issue 12 1705 doi: 10.3390/ani15121705
Everts RE, Caron R, Foster G, McLoone K, Martin K, Brooks SA, Lafayette C.The 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 to no white hairs. Previous studies mapped the locus for roan to the KIT region and observed linked variants in a small number of breeds. However, utilizing those linked markers to determine the roan genotype in other breeds has seen limited success. In this communication we identify a second roan allele (RN2) which, in conjunction with a previously observed roan allele (RN1) disc...
Biphasic CAPA-IVM Improves Equine Oocyte Quality and Subsequent Embryo Development Without Inducing Genetic Aberrations.
International journal of molecular sciences    June 8, 2025   Volume 26, Issue 12 5495 doi: 10.3390/ijms26125495
Fakhar-I-Adil M, Angel-Velez D, Araftpoor E, Amin QA, Hedia M, Bühler M, Gevaert K, Menten B, Van Soom A, Chuva de Sousa Lopes SM, Stoop D, De Roo C....In vitro maturation (IVM) of oocytes retrieved from ovum pick-up (OPU) or ovarian tissue (OT) is a standard approach for patients with specific conditions where prior hormonal stimulation is contraindicated. However, the developmental competence of oocytes matured in vitro is still inferior to that of oocytes matured in vivo. Capacitation IVM (CAPA-IVM) includes an extra step of pre-maturation culture (PMC) with c-type natriuretic peptide (CNP) as a meiotic arrestor to better synchronize cytoplasmic and nuclear maturity in oocytes by allowing the cytoplasm additional time to acquire essential ...
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