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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.
Selection at the GSDMC locus in horses and its implications for human mobility.
Science (New York, N.Y.)    August 28, 2025   Volume 389, Issue 6763 925-930 doi: 10.1126/science.adp4581
Liu X, Jia Y, Pan J, Zhang Y, Gong Y, Wang X, Ma Y, Alvarez N, Jiang L, Orlando L.Horsepower revolutionized human history through enhanced mobility, transport, and warfare. However, the suite of biological traits that reshaped horses during domestication remains unclear. We scanned an extensive horse genome time series for selection signatures at 266 markers associated with key traits. We detected a signature of positive selection at -known to be a modulator of behavior in mice-occurring ~5000 years ago (ya), suggesting that taming was one of the earliest steps toward domestication of horses. Intensive selection at began ~4750 ya with the domestication bottleneck, leading ...
Genetic Diversity of Equid Herpesvirus 5 in Temporal Samples from Mares and Their Foals at Three Polish National Studs.
International journal of molecular sciences    August 27, 2025   Volume 26, Issue 17 8298 doi: 10.3390/ijms26178298
Stasiak K, Dunowska M, Rola J.Equid herpesvirus 5 (EHV-5) comprises a group of heterogeneous viruses with a worldwide distribution. Primary infection typically occurs early in life, which is followed by latency and periodic recrudescence of the virus. The aim of this study was to determine the genetic variation of EHV-5 in individual animals over time and to determine the dynamics of EHV-5 spread among selected mare-foal pairs at three horse studs. The partial glycoprotein B () gene was amplified from archival nasal swab samples. Sequences from 3-5 clones from each PCR product were compared using identity matrix, phylogeny...
Molecular diversity of cox1 and LSU rDNA sequences of Sarcocystis bertrami (syn. S. fayeri) (Apicomplexa: Eucoccidiorida: Sarcocystidae) in horses.
Parasitology international    August 21, 2025   Volume 110 103144 doi: 10.1016/j.parint.2025.103144
Toda J, Miyasaka J, Osako H, Murata K, Yunus M, Amalia R, Soe BK, Sato H.Food poisoning caused by consuming raw horsemeat contaminated with Sarcocystis is a significant public health concern. Two morphotypes of sarcocysts in horsemeat, characterized by upright and folded villar protrusions, are typically identified as Sarcocystis fayeri and S. bertrami, respectively. However, recent molecular studies focusing on the ribosomal RNA gene (rDNA) and mitochondrial cytochrome c oxidase subunit I gene (cox1) have indicated a conspecific relationship between these two morphotypes using a limited number of specimens. To explore further genetic diversity in equid sarcocysts,...
Population Structure and Genetic Diversity Among Shagya Arabian Horse Genealogical Lineages in Bulgaria Based on Microsatellite Genotyping.
Veterinary sciences    August 19, 2025   Volume 12, Issue 8 776 doi: 10.3390/vetsci12080776
The Shagya Arabian horse breed was created to address the need of Imperial Hussars (Hungarian light horsemen) for a horse with the intelligence, essential characteristics, and endurance of the Arabian breed, but also of a bigger size and having a better weight-carrying capacity and jumping ability. The present study aimed to explore the genetic variability and population structure of the uninvestigated Shagya Arabian horse population in Bulgaria based on genotyping at 15 equine microsatellite markers. A total of 140 horses belonging to six genealogical lines (Dahoman, Gazal, Ibrahim, Kuhailan ...
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...
Genotype concordance and trait mapping efficacy comparing data from the Equine 670 K SNP array with whole genome sequence in 21 horses.
Animal genetics    August 16, 2025   Volume 56, Issue 4 e70037 doi: 10.1111/age.70037
Van Buren SL, Petersen JL, Brown CT, Finno CJ.With advancing genomic technologies, single-nucleotide polymorphism (SNP) arrays and whole genome sequencing (WGS) have become essential tools in equine genetic research. In this study, we assessed the concordance in SNP calls and trait-mapping efficacy by comparing data of 21 horses both genotyped on the Equine 670 K SNP array and sequenced at either ~12× or ~30× depth. Our analysis revealed that higher sequencing depths were significantly associated with fewer discordant calls between platforms. Additionally, we investigated the most frequent no-call and discordant positions and identifi...
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 ...
Late Iron Age and Roman equine breeding north of the Alps: Genetic insights and cultural implications.
iScience    August 13, 2025   Volume 28, Issue 9 113224 doi: 10.1016/j.isci.2025.113224
Sharif MB, Mohaseb AF, Orlando L, Saliari K, Kunst GK, Czeika S, Mashkour M, Cucchi T, Peters J, Trixl S, Mohandesan E.The Roman conquest of the northern Alpine foreland in 15 BCE introduced larger-sized horses and hybrid mules to the region. To investigate their genetic profiles and influence on local breeding, we analyzed our previously generated shallow shotgun DNA data from 402 Late Iron Age and Roman equids, supplemented with mitochondrial and nuclear capture data from 40 to 31 equids from the same regions and periods. Late Iron Age and Roman horses exhibit high matrilineal diversity, with unique haplogroups in the latter indicating exogenous animals. The preferred use of male mounts in army service menti...
First report of Benzimidazole resistance in equid intestinal strongyles from Kashmir valley, India.
Acta tropica    August 12, 2025   Volume 270 107782 doi: 10.1016/j.actatropica.2025.107782
Tramboo SR, Shahardar RA, Allaie IM, Bulbul KH.Benzimidazole (BZ) anthelmintics have been used indiscriminately in equids to control nematode infections throughout the world including India and has led to the development of BZ resistance. In order to determine the current status of BZ resistance in equids of Kashmir against intestinal strongyles (IS), the present study was conducted using faecal egg count reduction test (FECRT) and Allele specific PCR (AS-PCR). The study was conducted on ponies from three major tourist destinations of Kashmir viz; Gulmarg, Pahalgam and Sonamarg in accordance with the WAAVP guidelines. The animals which wer...
Whole-Genome Resequencing Analysis of Athletic Traits in Grassland-Thoroughbred.
Animals : an open access journal from MDPI    August 7, 2025   Volume 15, Issue 15 2323 doi: 10.3390/ani15152323
Ding W, Gong W, Bou T, Shi L, Lin Y, Shi X, Li Z, Wu H, Dugarjaviin M, Bai D.Speed is not only the primary objective of racehorse breeding but also a crucial indicator for evaluating racehorse performance. This study investigates a newly developed racehorse breed in China. Through whole-genome resequencing, we selected 60 offspring obtained from the crossbreeding of Thoroughbred horses and Xilingol horses for this study. This breed is tentatively named "Grassland-Thoroughbred", and the samples were divided into two groups based on racing ability: 30 racehorses and 30 non-racehorses. Based on whole-genome sequencing data, the study achieved an average sequencing depth o...
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 Å, 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 511...
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...