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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.
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 ...
An application of the MR-Horse method to reduce selection bias in genome-wide association studies of disease progression.
European journal of human genetics : EJHG    June 3, 2025   doi: 10.1038/s41431-025-01845-6
Donovan K, Torres J, Zhu D, Herrington WG, Staplin N.Genome-wide association studies (GWAS) of disease progression are vulnerable to collider bias caused by selection of participants with disease at study entry. This bias introduces spurious associations between disease progression and genetic variants that are truly only associated with disease incidence. Methods of statistical adjustment to reduce this bias have been published, but rely on assumptions regarding the genetic correlation of disease incidence and disease progression which are likely to be violated in many human diseases. MR-Horse is a recently published Bayesian method to estimate...
Preliminary Study on the Genetic Structure and Functional Candidate Genes of Grassland-Thoroughbreds Based on Whole-Genome Resequencing.
Animals : an open access journal from MDPI    May 19, 2025   Volume 15, Issue 10 doi: 10.3390/ani15101462
Ding W, Gong W, Bou T, Shi L, Lin Y, Shi X, Li Z, Wu H, Dugarjaviin M, Bai D, Zhao Y.Speed and endurance are the primary goals in racehorse breeding. The Grassland-Thoroughbred is a newly developed breed in northern China that combines speed, endurance, and environmental adaptability. However, current research on the genetic background of this breed and the genes associated with athletic performance remains limited. We conducted whole-genome resequencing on Mongolian (MG), Thoroughbred (TB), Xilingol (XL), and Grassland-Thoroughbred (CY) horses, generating 3813.74 Gb of clean data after quality control. The number of transitions was significantly higher than that of transversi...
Reprint of: Sequencing and assembling the genome of Przewalski’s horse in the classroom.
Journal of equine veterinary science    May 18, 2025   Volume 148 105406 doi: 10.1016/j.jevs.2025.105406
Faulk C.Sequencing a genome by students has now become practical as we demonstrated with our recent publication of the Przewalski's horse (Equus ferus przewalskii) genome. In this review, I describe my experience teaching genome assembly in the classroom. In my course, students sequenced, assembled, and published a high-quality genome for Przewalski's horse using Oxford Nanopore long-read sequencing with only $4000 of materials. Along with the genome, we assembled the mitochondrial genome, sequence variants, predicted gene annotations, and DNA methylation levels. Our genome statistics far exceeded the...
Whole-Genome Resequencing Analysis of Copy Number Variations Associated with Athletic Performance in Grassland-Thoroughbred.
Animals : an open access journal from MDPI    May 18, 2025   Volume 15, Issue 10 1458 doi: 10.3390/ani15101458
Ding W, Gong W, Bou T, Shi L, Lin Y, Shi X, Li Z, Wu H, Dugarjaviin M, Bai D.Copy number variation (CNV) is an important source of genetic variation. However, studies utilizing whole-genome sequencing to investigate CNVs in horse populations and their effects on traits remain relatively limited. This study aims to address the lack of research on the impact of copy number variation (CNV) on racing performance in horse populations, providing new insights for locally bred racing breeds. We analyzed 60 offspring derived from the crossbreeding of Thoroughbred horses and Xilingol horses. These horses were temporarily named "Grassland-Thoroughbred" and were divided into two g...
Selection signatures and inbreeding: exploring genetic diversity in five native horse breeds.
BMC veterinary research    May 16, 2025   Volume 21, Issue 1 346 doi: 10.1186/s12917-025-04794-w
Asti V, Summer A, Ablondi M, Sartori C, Giontella A, Pilastro V, Mecocci S, Cappelli K, Mancin E, Oian A, Mantovani R, Capomaccio S, Sabbioni A.Horses have undergone extensive natural and artificial selection, shaping the diversity of breeds observed today. Native Italian breeds present unique traits influenced by natural selection, such as adaptation to harsh climates, or hoof strength, but face challenges due to population declines and the reduction of their original breeding purpose. This study focuses on five local Italian breeds: Bardigiano, Haflinger, Maremmano, Murgese, and Italian Heavy Draught Horse, to understand how selection has shaped their populations. A total of 1620 individuals were genotyped with a medium-density SNP ...
Sustainability insights from Late Pleistocene climate change and horse migration patterns.
Science (New York, N.Y.)    May 15, 2025   Volume 388, Issue 6748 748-755 doi: 10.1126/science.adr2355
Climate affects habitat, food availability, and the movement and sustainability of all life. In this work, we apply Indigenous and Western scientific methods, including genomics and isotope profiling, on fossils from across Beringia to explore the effect of climate change on horses. We find that Late Pleistocene horses from Alaska and northern Yukon are related to populations from Eurasia and crossed the Bering land bridge multiple times during the last glacial interval. We also find deeply divergent lineages north and south of the American ice sheets that genetically influenced populations ac...
Analysis of Population Structure in Hungarian Coldblood Horses Based on Pedigree Information.
Animals : an open access journal from MDPI    May 13, 2025   Volume 15, Issue 10 1406 doi: 10.3390/ani15101406
Barsi B, Oláh J, Posta J.The Hungarian Coldblood horse was developed in the 1920s by crossing local mares with draft horses imported from Belgium and France, and was approved as an official horse breed in 1954. The aim of the study was to analyze the quality of the pedigree, generation interval, gene origin, and inbreeding. The pedigree information was received from the Hungarian Coldblood Horse Breeding Association. The studbook data of the registered animals up to 2023 were evaluated. Two reference populations were chosen: horses having offspring in 1989 and 2023. The final database contained 21,699 horses. Pedigree...
Multiplex PCR-Liquid Chromatography High-Resolution Tandem Mass Spectrometry for Simultaneous Detection of Multiple Transgenes in Equine Plasma.
Analytical chemistry    May 12, 2025   doi: 10.1021/acs.analchem.5c00770
Yuen BP, Wong KS, So YM, Kwok WH, Cheung HW, Wan TSM, Ho EN, Wong WT.The development of gene therapy techniques introduces a potential risk of gene doping, which threatens the integrity of sport. In response to this challenge, we have developed a novel analytical method that employs a multiplex polymerase chain reaction (PCR) in conjunction with liquid chromatography high-resolution tandem mass spectrometry (LC-HRMS/MS) for the simultaneous identification of multiple transgenes in equine plasma within a single reaction. The method targets three potential doping transgenes: equine growth hormone 1 (eGH1), equine growth hormone-releasing hormone (eGHRH), and equi...
Enhanced Reliability of the Evaluation of Fertility Traits in Pura Raza Española Horses Using Single-Step Genomic Best Linear Unbiased Prediction.
Genes    May 9, 2025   Volume 16, Issue 5 562 doi: 10.3390/genes16050562
Ziadi C, Valera M, Laseca N, Perdomo-González D, Demyda-Peyrás S, de Los Terreros AR, Molina A. By simultaneously integrating both genotyped and non-genotyped animals into genetic evaluation, the single-step genomic BLUP method enhanced the accuracy of genetic assessments. This study aimed to compare the increase in prediction reliability (R) between restricted maximum likelihood (REML) and single-step genomic REML (ssGREML) in the Pura Raza Española (PRE) horse breed. The dataset comprised reproductive records for seven fertility traits from 47,502 females, with a total of 57,316 animals represented in the pedigree. A total of 4009 animals were genotyped using the EQUIGENE 90K SNP ar...
Genetic susceptibility to sarcoid in Arabian horses: associations with MHC class II and compound MHC class I/KLRA genotypes.
Veterinary research communications    May 1, 2025   Volume 49, Issue 3 184 doi: 10.1007/s11259-025-10748-2
Vychodilova L, Plasil M, Futas J, Kopecka A, Molinkova D, Wijacki T, Jahn P, Knoll A, Horin P.Although the Major Histocompatibility Complex (MHC) has been repeatedly associated with susceptibility to equine sarcoid, a disease associated with bovine papillomavirus infection, the role of the MHC in the mechanisms of the disease is not fully understood. The objectives of our work were to analyze associations between polymorphic markers of the MHC genomic subregions and of the Natural Killer Complex (NKC) genomic region and the presence of sarcoid in Arabian horses. Microsatellite loci located in the MHC class I, II and III subregions and two MHC class II genes (DRA, DQA1), along with a se...
Allele Frequencies and Genotypes for the Ryanodine Receptor 1 Variant Causing Malignant Hyperthermia and Fatal Rhabdomyolysis With Hyperthermia in Horses.
Journal of veterinary internal medicine    April 29, 2025   Volume 39, Issue 3 e70081 doi: 10.1111/jvim.70081
Aleman M, McCue M, Bellone RR.Fatal anesthesia-induced malignant hyperthermia (MH) and rhabdomyolysis with hyperthermia documented in Quarter Horses (QH) breeds are caused by a missense variant in the ryanodine receptor 1 gene (RYR1: XP_023505430.1.:p.(R2454G), designated as MH). The reported cases to date have all been heterozygous, and the allele frequency is suspected to be low. Objective: To determine an accurate estimate of MH allele frequency in multiple horse breeds and investigate whether homozygous animals exist in the population. Methods: In total, 159 227 horses from 16 breeds who were either submitted for cli...
Osteochondrosis in horses: An overview of genetic and other factors.
Equine veterinary journal    April 29, 2025   doi: 10.1111/evj.14518
Martinez-Saez L, Marín-García PJ, Llobat ML.Osteochondrosis (OC) is a frequent manifestation of developmental orthopaedic disease, and its severe clinical presentation is known as OC dissecans (OCD). OC is defined as a disruption of the endochondral ossification process in the epiphyseal cartilage, and this disease has been reported in different mammalian species, including humans, dogs, pigs, and horses. OCD is an important cause of lameness in sport horses and is a common cause of impaired orthopaedic potential, whose clinical signs may be of minimal magnitude or manifest as severe joint effusion or clinically noticeable lameness. The...
Characteristics and dynamic changes of gut microbiota in Mongolian horses and Guizhou horses.
Frontiers in microbiology    April 15, 2025   Volume 16 1582821 doi: 10.3389/fmicb.2025.1582821
Li Y, Lan Y.The gut microbial importance and its crucial roles in host digestion, immunity, and metabolism have received widely attention. Horses, especially indigenous varieties such as Mongolian horses (MGH) and Guizhou horses (GZH), have not received sufficient attention, and the characteristics of their gut microbiota are still unclear. For this purpose, we collected faecal samples from eight MGH and eight GZH to compare their gut microbial differences using amplicon sequencing. The results of alpha diversity analysis indicated that the gut bacterial diversity and gut fungal abundance in GZH were sign...
Pilot Study on the Profiling and Functional Analysis of mRNA, miRNA, and lncRNA in the Skeletal Muscle of Mongolian Horses, Xilingol Horses, and Grassland-Thoroughbreds.
Animals : an open access journal from MDPI    April 13, 2025   Volume 15, Issue 8 doi: 10.3390/ani15081123
Ding W, Gong W, Bou T, Shi L, Lin Y, Wu H, Dugarjaviin M, Bai D.Muscle fibers, as the fundamental units of muscle tissue, play a crucial role in determining skeletal muscle function through their growth, development, and composition. To investigate changes in muscle fiber types and their regulatory mechanisms in Mongolian horses (MG), Xilingol horses (XL), and Grassland-Thoroughbreds (CY), we conducted histological and bioinformatic analyses on the gluteus medius muscle of these three horse breeds. Immunofluorescence analysis revealed that Grassland-Thoroughbreds had the highest proportion of fast-twitch muscle fibers at 78.63%, while Mongolian horses had ...
Effect of Alternative Splicing Euchromatic Histone Lysine Methyltransferase 2 (EHMT2/G9A) on Spermatogenesis in Mongolian Horses.
Animals : an open access journal from MDPI    April 11, 2025   Volume 15, Issue 8 doi: 10.3390/ani15081106
Baatar T, Song D, Weng Y, Wang G, Jin L, Guo R, Li B, Dugarjaviin M.The epigenetic regulation of gene expression through the covalent modification of histones is crucial for developing germline cells. To study the regulatory role of alternative splicing (AS) of euchromatic histone lysine methyltransferase 2 (EHMT2/G9A) in spermatogenesis in Mongolian horses, this study first examines the localization of the EHMT2 gene in testicular support cells and then predicts the higher-order structures of sequences with and without AS. Two types of lentiviral vectors for overexpression were subsequently constructed for the EHMT2 gene, one with AS and one without, to infec...
Exploring the genetic influences on equine analgesic efficacy through genome-wide association analysis of ranked pain responses.
Veterinary journal (London, England : 1997)    April 10, 2025   Volume 312 106347 doi: 10.1016/j.tvjl.2025.106347
Bacon EK, Donnelly CG, Finno CJ, Haase B, Velie BD.Multimodal analgesic administration is a promising strategy for mitigating side effects typically associated with analgesia; nevertheless, variation in analgesic effectiveness still poses a considerable safety concern for both horses and veterinarians. Pharmacogenomic studies have started delving into genetic influences on varying drug effectiveness and related side effects. However, current findings have narrow implications and are limited in their ability to individualize analgesic dosages in horses. Hydromorphone and detomidine were administered to a cohort of 48 horses at standardized time...