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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.
Evidence That GYPA (Glycophorin A) Encodes the K Blood Group System in Horses.
Animal genetics    March 16, 2026   Volume 57, Issue 2 e70083 doi: 10.1002/age.70083
Mackowski M, Kajdasz A, Laskowska K, Cieslak J.Although serological and genetic studies of equine blood group systems have been conducted for many years, the molecular basis of erythrocyte antigens' variability has remained largely unexplored. In this study, we aimed to elucidate the genetic basis of serological variation within equine blood group K. Using mRNA extracted from peripheral blood samples (n = 100) collected from horses with known serological blood types (Ka or K-), we performed a transcriptome-wide association study (TWAS), which revealed a significantly associated region on equine chromosome 2 (ECA2). A detailed analysis ...
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
Gene Editing and the Future of Thoroughbred Breeding and Racing.
Drug testing and analysis    March 11, 2026   doi: 10.1002/dta.70056
Ryder E, Given J, Hamilton N.Prohibited gene editing in horses (either in embryos or via cell culture and cloning) can result in both desired and undesired outcomes. If left undetected, changes can proliferate within the population in subsequent generations, posing a major threat to welfare and breed integrity.
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 ...
Does the Reproductive Technique Affect Neonatal Health Parameters in Foals?
Reproduction in domestic animals = Zuchthygiene    March 10, 2026   Volume 61, Issue 3 e70192 doi: 10.1111/rda.70192
Alonso MA, Dos Santos GR, Fonte JS, Marques PC, Pereira DD, Toral FLB, Bordignon V, Junior JB, Squires E, Fernandes CB.This retrospective study evaluated whether different reproductive biotechnologies influence neonatal behaviour parameters in foals. Data from 102 foalings in two commercial breeding farms were analysed, including foals conceived by artificial insemination (AI), conventional embryo transfer (ET) and intracytoplasmic sperm injection (ICSI). Neonatal parameters recorded were birth weight, time to achieve sternal recumbency, time to stand, time to nurse and time to meconium elimination. Mixed statistical models were applied to assess the influence of reproductive technique, breed, sex and farm. Si...
Transmission of Salmonella clones between different animal species in a horse and cattle breeding region in Japan.
Scientific reports    March 6, 2026   doi: 10.1038/s41598-026-39311-y
Arai N, Niwa H, Uchida-Fujii E, Sawa Y, Tamamura-Andoh Y, Kinoshita Y, Momoki A, Watanabe-Yanai A, Iwata T, Kubo M, Kusumoto M.Sequence type 34 (ST34) Salmonella enterica serovar Typhimurium and its monophasic variant (Salmonella 4,[5],12:i:-) are the most prevalent clones among humans and animals worldwide, including in Japan. Although cross-species transmission may have occurred in the background of global spread, the matter remains unresolved. Here, we conducted high-resolution phylogenetic analysis using whole-genome sequencing data of Salmonella Typhimurium and 4,[5],12:i:- obtained from a horse and cattle breeding district in Japan and identified cases of cross-species transmission of ST34 Salmonella 4,[5],12:i:...
Paternal determinants of Offspring Sex Ratio in horses: A retrospective analysis of stallion breed, age, and breeding method.
Animal reproduction science    February 24, 2026   Volume 289 108150 doi: 10.1016/j.anireprosci.2026.108150
Armangau M, Lurier T, Josson A.Offspring Sex Ratio (OSR) at birth in mammals is generally assumed to follow a 1:1 male-to-female distribution, yet deviations in OSR have been observed and may be influenced by maternal and paternal factors. In this study we have focused on the effect of paternal factors (stallion age and breed) and breeding methods on the OSR. Using a retrospective dataset of 251,783 foal births recorded in France between 2015 and 2024, we applied generalized linear mixed models to evaluate the effects of these variables on the likelihood of producing a female foal. Stallion identity was included as a random...
Machine learning-based prediction and quantification of OCD surgery and pedigree effects on racehorse performance.
Veterinary journal (London, England : 1997)    February 21, 2026   Volume 316 106607 doi: 10.1016/j.tvjl.2026.106607
An SJ, Sohn Y, Forbes E, Ryu SH.Osteochondritis dissecans (OCD) is a common developmental orthopedic condition in Thoroughbred racehorses and although arthroscopic surgery is widely used for treatment, its long-term effects on race performance remain unclear. This retrospective study evaluated the effect of OCD surgery on race performance, compared the predictive power of pedigree and management variables and applied interpretable machine learning methods for forecasting race performance outcomes. Data were collected from 75 Thoroughbreds that underwent OCD surgery between 2015 and 2017 and 257 maternal siblings without reco...
Fragile foal syndrome: manifestations, heterozygous advantage and the future of breeding policies.
Journal of equine veterinary science    February 20, 2026   Volume 159 105816 doi: 10.1016/j.jevs.2026.105816
Gartland KL, Leśniak K, Twigg-Flesner A.Scientific interest in relation to Fragile Foal Syndrome (FFS) has proliferated in the last decade, but before this, many clinical cases were attributed to other similarly presenting equine neonatal disorders. It was thought that FFS-affected foals were mainly miscarried throughout gestation, but recent study results suggest that often, foals are born alive and die shortly after birth. FFS is proposed to have originated as long ago as the Godolphin Arabian, but the definite derivation of the mutant allele is unconfirmed. The discovery that FFS is present in 11-30% of Warmbloods and 2-3% of Tho...
Molecular Identification and Benzimidazole Resistance Analysis of Cyathostomins in Chinese Grazing Horses.
Veterinary sciences    February 9, 2026   Volume 13, Issue 2 169 doi: 10.3390/vetsci13020169
Zhang C, Cai E, Ma Y, Zhong G, Gao Y, Wu Y, Liu B, Li J.This study investigated the cyathostomin species composition, anthelmintic efficacy, and potential resistance-associated mutations in Chinese grazing horses. Fecal samples were collected from 90 adult horses. Fecal egg counts (FECs) were determined using a modified McMaster method. Third stage larvae (L3) cultured from the eggs were identified to species level by PCR amplification and sequencing of the internal transcribed spacer-2 (ITS-2). The main species included and spp. However, differences in the relative abundance of less common species, including and , suggests regional variation. A...
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...
The first molecular detection of equine piroplasmosis in Vietnam and genetic characterization of three co-circulating genotypes of Theileria equi.
Parasitology research    February 5, 2026   Volume 125, Issue 1 14 doi: 10.1007/s00436-026-08630-4
Dao TTH, Szűts T, Duong NN, Troung DTQ, Solymosi N, Takács N, Hornok S, Farkas R.Equine piroplasmosis, caused by , and , significantly impacts on the veterinary and economic aspects of the global horse industry. However, many countries, including Vietnam, have not yet conducted epidemiological surveys to determine the prevalence of these haemoparasites. This study aimed to detect and/or infections in horses and to identify their genotypes. Blood samples were collected from 154 apparently healthy horses in eight districts of Hanoi, Thai Nguyen, and Son La provinces located in the northern part of the country. Twenty-four horses (15.58%, 95%CI: 10.70–22.14%) were found ...
Diagnosis of Equine Genital Leptospirosis (EGL) in mares with poor reproductive performance.
Veterinary microbiology    February 3, 2026   Volume 315 110924 doi: 10.1016/j.vetmic.2026.110924
Motta D, Aymée L, Roussouliéres I, Di Azevedo MIN, Jacob JCF, Lilenbaum W.Leptospirosis is a zoonotic disease caused by spirochetes of the genus Leptospira. Equine genital leptospirosis (EGL) has been described as a chronic and silent syndrome, presenting reproductive alterations such as abortion, stillbirth, placentitis, embryonic loss, repeat breeding syndrome, and subfertility. This study aimed to investigate the genital Leptospira infection in naturally infected mares with poor reproductive performance, as well as to genetically characterize the agents. A total of 41 mares with a history of poor reproductive performance were selected. Sera were collected for ser...
Genomic characterization of Salmonella enterica serotype Saintpaul isolates from horses.
Veterinary microbiology    February 3, 2026   Volume 314 110923 doi: 10.1016/j.vetmic.2026.110923
Uprety T, Shaffer CL, Loynachan A, Janes J, Cassone L, Kennedy L, Bryant U, Ruby R, Swan M, Sponseller BT, Adam E, Lubbers B, Erol E.Salmonellosis is a highly contagious, zoonotic disease affecting both animal and human health. Early characterization of emerging Salmonella serotypes and associated antimicrobial resistance patterns are essential for outbreak controls in animals and humans. Between 2018 and 2025, 245 Salmonella enterica subsp. enterica were isolated from both ante-mortem and post-mortem equine cases. The predominant Salmonella serotypes were Typhimurium (83), Newport (28), 1,4,[5],12:i:- (26), Saintpaul (25), Hartford (15), and Mbandaka (12). S. Saintpaul, previously rare in horses, was detected in 21 cases i...
Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy.
PloS one    January 29, 2026   Volume 21, Issue 1 e0341655 doi: 10.1371/journal.pone.0341655
Valberg SJ, Williams ZJ, Ames EG, Mickelson JR, Nout-Lomas YS, Landolt G, Sanz M, Gardner K.Equine myotonic dystrophy (eMD) is a rare neuromuscular disorder of undetermined origin marked by muscle hypertrophy and stiffness, dystrophic muscle histopathology, and myotonic discharges. In humans, myotonic dystrophy (DM) arises from trinucleotide repeat expansions in dystrophia myotonica protein kinase (DMPK) (DM1) or tetranucleotide expansions in cellular nucleic acid-binding protein (CNBP) (DM2), which disrupt mRNA processing and induce embryonic splicing patterns across multiple genes. In 6 eMD Quarter Horse types, (2-36 months-of-age) and 8 control Quarter Horses we determined: (1) fi...
Heritability Estimates of Traits Assessed in Field Performance Tests of Polish Warmblood Mares.
Genes    January 28, 2026   Volume 17, Issue 2 148 doi: 10.3390/genes17020148
Lewczuk D, Borowska A, Maśko M, Bagnicka E.: Knowledge of the genetic background of evaluated traits has been the basis for genetic progress in every horse-breeding population and is essential for precise breeding and up-to-date decision-making. The study aimed to estimate the heritability coefficients for field performance traits in mares. : The research was based on 1408 evaluations of mares conducted during the years 2002-2021 in 51 training centers in Poland. The preliminary analyses of the effects, significant for the investigated traits, were obtained using analysis of variance, and these additional data are also presented (SAS p...
Occurrence, antibiotic susceptibility and genetic variation of Streptococcus zooepidemicus in Finnish weanling horses with and without respiratory infection.
Acta veterinaria Scandinavica    January 27, 2026   Volume 68, Issue 1 7 doi: 10.1186/s13028-025-00839-0
Junkkari R, Mykkänen A, Sulku P, Rantala M, Pohjanvirta T, Eklund M, Pelkonen S, Grönthal T. subsp. (), an opportunistic pathogen often found in the stable environment and upper respiratory tract of young horses, can cause severe pneumonias in Equidae. In this study we investigated the occurrence, genetic variation and antimicrobial susceptibility of isolates from 63 weanling horses kept in loose housing or conventional stables. The bacterial isolates were typed by using pulsed-field gel electrophoresis (PFGE) and multi-locus sequence typing (MLST). The possible associating factors (stable type, age, breed and clinical signs) for positive finding were analysed using logistic regre...
Integrated targeted metabolomics and transcriptomics analysis reveals heterogeneity of subcutaneous and pericardial adipose tissues in Yili horses.
Food chemistry. Molecular sciences    January 26, 2026   Volume 12 100365 doi: 10.1016/j.fochms.2026.100365
Yang L, Shen Z, Song L, Lu Z, Zeng Y, Wang J, Ren W, Yao X, Meng J.Fat deposition is a key economic trait in livestock, yet distinct adipose depots often display marked functional heterogeneity. The molecular basis underlying this divergence in Yili horses, however, remains poorly understood. Therefore, we hypothesized that the heterogeneity in fatty acid composition between subcutaneous (SAT) and pericardial adipose tissues (PCAT) in Yili horses is associated with distinct transcriptional programs, which can be explored using an integrated multi-omics approach. Using targeted metabolomics, we found that PCAT contained significantly higher levels of total, sa...
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. [...].
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...
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...
Investigation of gene stability in equine luteal tissue during mid-diestrus phase and early pregnancy – Research Article.
BMC veterinary research    January 9, 2026   Volume 22, Issue 1 84 doi: 10.1186/s12917-025-05241-6
Ramsaran LN, Byron M, Parry S, Lection J, Back B, Grenier J, Cheong SH, Diel de Amorim M.Real-time reverse transcription quantitative polymerase chain reaction (RT-qPCR) is a technique that allows for the semi-quantification of mRNA transcripts present within a tissue of interest. Differences in the relative abundance of mRNA between samples detected by RT-qPCR require normalization with a reference gene or genes whose transcript abundance is stable within the tissue of interest independent of experimental conditions. In the field of equine reproductive studies, ACTB, GAPDH and B2M genes are the most widely used as reference genes for the normalization of RT-qPCR results. However,...
Comparative analysis of the organization and complexity of immunoglobulin light chain loci in equids.
Journal of animal science    January 9, 2026   Volume 104 skag001 doi: 10.1093/jas/skag001
Qiu Y, Lei Y, Yi X, Tang X, Zhang B, Wang S, Sun X.This study investigated three donkey breeds-Guanzhong, Jiami, and Northern Shaanxi-to characterize the structural organization and diversification mechanisms of the immunoglobulin light-chain (IgL) loci and to conduct both intra-breed and interspecies comparisons with horses. The donkey IGλ locus is located on chromosome 8 and arranged in a Vλ-(Jλ-Cλ)-Vλ configuration. It contains 7 Cλ genes, each preceded by a corresponding Jλ gene to form a Jλ-Cλ cluster. Upstream of this cluster, 156 Vλ genes were identified, including 29 potential functional genes; downstream, 98 Vλ genes were d...
Upwards or onwards? Assessment of objective gait quality parameters in three European horse breeds at walk and trot.
Journal of equine veterinary science    December 30, 2025   Volume 157 105764 doi: 10.1016/j.jevs.2025.105764
Gmel AI, Haraldsdóttir EH, Rosa TV, Lamas LP, Neuditschko M, Weishaupt MA.Europe has many horse breeds differing in conformation, gaits and genetics due to diverging breeding goals. Research studies comparing objective gait parameters between different horse breeds are limited and date back a decade. Objective: In this study, objective gait parameters were measured in three European breeds, namely Lusitanos (LUS; n = 52), Franches-Montagnes (FM; n = 311) and Swiss Warmblood (WB; n = 40) using an inertial measurement system (sensors at poll, withers, pelvis and all four canon bones) at walk and trot. Results: At walk and trot, LUS moved significantly slower than WB a...
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...
Molecular Prevalence and Genotypic Diversity of Theileria equi in Xinjiang, China, Based on Three Genes.
Veterinary sciences    December 25, 2025   Volume 13, Issue 1 27 doi: 10.3390/vetsci13010027
Qin S, Kulabieke T, Mizhamuhan D, Zhang M, Jin M, Abula G, Pi M, Wang H, Zhang Y, Guo Q.Equine theileriosis, caused by the protozoan parasite , represents a significant economic threat to the equine industry. In Xinjiang, China, an endemic area for this disease, systematic research on the genetic diversity of has been notably lacking. The aim of this study was to obtain molecular epidemiological data pertaining to the parasite in selected regions of Xinjiang, China, and analyze the genetic characteristics (including rRNA, , and genes) and genotype distribution patterns of isolates from these regions, providing a scientific basis for developing targeted prevention and control s...
Mitochondrial genome assembly of the Peruvian Paso horse through PacBio long-read sequencing.
Scientific reports    December 21, 2025   Volume 16, Issue 1 85 doi: 10.1038/s41598-025-29107-x
Saldaña CL, Justo S, Murga L, Vásquez HV, Maicelo JL, Arbizu CI, Bardales W.The complete mitochondrial genome of the Peruvian Paso Horse was assembled using PacBio HiFi long reads, resulting in a high-quality circular genome of 16,617 bp comprising 13 protein-coding genes, 22 tRNAs, 2 rRNAs, and a control region. Nucleotide composition and gene structure were consistent with other equine mitogenomes. Codon usage analysis revealed a bias toward CUA (Leu), AUA and AUC (Ile), suggesting translational optimization. Thirty-five heteroplasmic variants were identified, predominantly located in RNA genes (12 S rRNA and tRNA-Phe), with allele frequencies between 0.10 and 0.6...
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