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.
Donnelly CG, Peng S, Pflieger L, Manfredi J, Coleman M, Rappaport N, Price ND, Finno CJ.Metabolic syndrome (MetS)-encompassing obesity, insulin resistance, dyslipidemia, and hypertension-is prevalent in both humans and horses, offering a unique opportunity to explore shared pathophysiological mechanisms across species in a controlled model organism. In this first report from the Pioneer 100 Horse Health Project (P100HHP), we conducted a longitudinal, multi-omic analysis of 108 deeply phenotyped horses to interrogate individual health trajectories for precision insights into MetS. We identified two primary metabotypes: one characterized by elevated unsaturated triglycerides (TGs) ...
Chessari G, Reich P, Criscione A, Falker-Gieske C, Mastrangelo S, Tumino S, Bordonaro S, Marletta D, Tetens J.Single nucleotide polymorphism (SNP) arrays are commonly used for studying the genomic structure and diversity of livestock breeds, but whole-genome sequencing (WGS) provides higher-resolution genomic data. Genotype imputation has become a standard practice for increasing the genomic resolution of association studies. This work aimed to extend imputation to biodiversity analyses, comparing SNP array data before and after imputation. A 40 k SNP dataset of 281 horses from 12 breeds (DS) was imputed to sequence-level using a reference panel of 327 sequenced individuals, generating approximately 9...
Bhat S, Karunakaran S, Frossard JP, Choudhury B, Steinbach F.Equine arteritis virus (EAV) is the causative agent of equine viral arteritis, a notifiable respiratory and reproductive disease of equids that causes significant losses to the equine industry. This study presents a comprehensive analysis of two EAV outbreaks in the UK in 2019, combining virus isolation, sequencing and phylogenetic analysis to provide a holistic understanding of EAV dynamics in these outbreaks. Genetic characterization revealed that all outbreak strains were similar to viruses detected in the UK and Europe from 2004 to 2011, belonging to phylogroup D and clustering in two grou...
Mendoza Cerna MN, Anderson H, Avni G, Kahila Bar-Gal G, Juras R, Raudsepp T.Robertsonian translocations (ROBs) or centric fusions of acrocentric chromosomes are the most common structural chromosomal rearrangements in mammals. ROBs are of medical and veterinary concern because of associated subfertility and congenital disorders but are also of interest as a mechanism of chromosome and karyotype evolution. While ROBs are well documented in humans, mice, and cattle/bovids, they are extremely rare in horses, despite the 18 acrocentric chromosomes in the horse karyotype. Methods: We characterize the case using conventional and molecular cytogenetic approaches and DNA anal...
Song D, Wang G, Baterin T, Weng Y, Dugarjaviin M, Li B.Normal spermatogenesis in Mongolian horses depends on the mitotic division of spermatogonia, two successive meiotic divisions, and the morphological transformation of spermatids into mature spermatozoa. The gene is involved in the meiosis cycle and is required for normal chromosome association during meiosis. Previous studies have shown that alternative splicing of may promote spermatogenesis in Mongolian horses. In this paper, the regulatory effects of different alternative splicing events on Mongolian horse spermatogenesis are investigated. Results: In this study, two overexpressed lentiv...
Pepper B, North E, Culwell J, Nicodemus MC, Cavinder C, Harvey K, Williams T.Due to the incorporation of the Golden American Saddlebred Horse Association (GASHA) into the American Saddlebred Horse and Breeders Association (ASHBA), breeding for coat color has become more challenging for horse breeders. However, with this merger, pedigree tracing can be of value in pinpointing foundation bloodlines within the GASHA that influence production of the golden coat phenotype. Objective: The study objective was to document the historical origins of the GASHA through pedigree tracing to determine the influence of dilution alleles that produce the golden coat phenotype. Methods: ...
Harpke M, Brangsch H, Melzer F.In Germany, Contagious Equine Metritis (CEM) is a persistent problem in equine populations. The often subclinical nature of the disease, which is caused by the bacterium Taylorella equigenitalis, poses a problem for the breeding industry. However, there is a lack of knowledge about the genomic diversity of the pathogen in Germany, as studies on the genome level are lacking. Thus, in this study we sequenced 63 T. equigenitalis isolates from a strain collection and contemporary clinical isolates from before 2007-2024. Most of these isolates came from Icelandic horses in southern Germany. Based...
Kamiński S, Bejda J, Lewczuk D.The method for identifying the causative mutation for Warmblood Fragile Foal Syndrome (WFFS) involved PCR amplification of a 259-base pair fragment of the PLOD1 gene and its digestion with the restriction enzyme Aci I was developed, allowing for the clear detection of WFFS carriers. Eight WFFS carriers were detected among 308 warmblood horses kept in different farms across Poland, giving an overall frequency of 2.59%, which indicates a rather low frequency of the causative mutation for WFFS in Poland. Further research should be conducted on a larger number of horses, particularly those breeds ...
Sharma M, Singh A, Kumar V, Olla N, Arora R, Sharma R, Mohan NH, Ahlawat S.The genus Equus, encompassing horses, donkeys, and extinct relatives, has evolved over approximately 55 million years from small, multi-toed ancestors to the modern horse. Selective breeding has produced over 600 distinct horse breeds optimized for diverse traits such as size, conformation, performance, and adaptability. In the past two decades, rapid advances in equine genomics have significantly deepened our understanding of the molecular basis of these traits. The integration of high-throughput sequencing, genome-wide association studies (GWAS), and single-nucleotide polymorphism (SNP) geno...
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...
Jlassi M, Dhifalli I, Ouled Ahmed H, Lasfar F, El Gtari M, Jemmali B.The genetic diversity and population structure of Tunisian Arabian horses were assessed using highly polymorphic microsatellite markers, which are critical for conservation and breeding programs. Despite the cultural and economic importance of Arabian horses in Tunisia, molecular data supporting their management remain limited. In this study, DNA from 130 horses was genotyped with 17 ISAG-FAO-recommended microsatellites to evaluate diversity within Eastern and Western Arabian lineages and their relationship to Thoroughbreds. Eastern Arabians showed an average of 5.176 alleles per locus, observ...
Atasoy MO, Turan T, Özbek R, Işıdan H, Naggar RFE, Afify AF, Rohaim MA.The genus (HCV) has long been a dynamic group, increasing its number by myriads of species collectively referred to as non-primate hepaciviruses (NPHVs). NPHV exhibits a broad hepatotropism and is often attributed to chronic infection in horses and dogs. However, recent studies and meta-analyses on NPHV in horses have remained inconclusive regarding the determination of risk factors for infection. Therefore, our main goal was to investigate the frequencies and molecular characteristics of NPHV infection linked to geographical location, horse breeds, genders, and ages. For this purpose, we tes...
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...
Stefaniuk-Szmukier M, Błaszczak A, Długosz B, Musiał A, Ropka-Molik K.The Silesian horse is a heavy warmblood breed developed in Polish Silesia through the covering of local mares by East Frisian and Oldenburg stallions. Because of its historical significance and genetic heritage, the breed is part of a conservation programme in Poland. One of the genetic disorders of concern in warmblood horses is fragile foal syndrome (FFS), an autosomal recessive disease caused by a mutation in the gene (c.2032G>A). Affected foals either perish in late pregnancy or are born with severe connective tissue abnormalities, leading to early death. As carriers do not exhibit sympto...
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,...
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 ...
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.
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...
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...
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...
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...
Ludwig A, Biermann R, Frölich K, Jandowsky A, Langner C, Lieckfeldt D, Tschann K, Reissmann M.Domestic Baroque donkeys are popular animals in many European parks and zoos. Although their cream coat color is very charismatic, the underlying genetics is still undiscovered. Addressing this question, a candidate approach was used to search for the causative mutation.Considering the knowledge from domestic horses, the () was identified as the most promising candidate. Samples from 77 domesticated donkeys, 11 wild equids, 1 mule and 2 domestic horses were included in comparison. All exons and the flanking intron sequences of the were sequenced (2774bp).Sequence comparison revealed that a m...
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...
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...
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,...
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...
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...
Ricard A, Deretz S, Menard C, Priest BDS.The objective was to evaluate the genetic relationship between the surface temperature of regions of interest, measured using infrared images of young horses and functional longevity in jumping. This relationship was assessed by comparing the temperatures measured in the offspring of two groups of sires, one favourable and one unfavourable, to longevity. The study used a specific data collection protocol on a sample of 921 young progeny, before they began competing, of 141 extreme stallions, comprising 61 favourable and 80 unfavourable sires. These stallions had been selected based on estimate...
Vidal-Cardos R, Fàbrega E, Dalmau A.The sustainability of extensive livestock systems is compromised. It is necessary to enhance our understanding of the activity and grazing behavior of different livestock species (cows, horses, and sheep) sharing the same mountainous areas. Nowadays, the observation and analysis of animal activity is greatly facilitated by remote tracking technology, especially in zones with difficult access. In this article, we proved that commercial geolocation collars can provide meaningful data on animal activity, behavior, and distribution, which can be used to model daily distances, activity patterns, gr...
Liu X, Liu A, Khan MZ, Zhu Q, Zheng Y, Chen W, Cai B, Yan Z, Peng Y, Wang C.The gene family plays an indispensable role in regulating embryonic development, cell differentiation, and morphogenesis. This study employed bioinformatics approaches for systematic analysis, ultimately identifying 33 gene family members from the donkey genome. Physicochemical property analysis revealed that the number of amino acids encoded ranged from 94 to 444, with 31 members classified as alkaline proteins. Their secondary structure was predominantly composed of random coils and alpha helices, and all members were localized to the nucleus. Conserved motif analysis further demonstrated ...
