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.
Friedlander M, Sobotka H, Banzhaf EJ.The precipitin indices for a number of monovalent and polyvalent antipneumococcus sera were determined under known conditions, and found to vary as did the number of protective units. The ratio precipitin index/protective units in monovalent sera was found to lie between 2.8 and 4.8 for Type I and to be about ten times greater for Type III. Lower values were found in polyvalent horses and when mixing heterologous monovalent sera with each other. The influence of the duration of treatment upon the quotient was studied. Several refined and concentrated preparations showed a relative increase in ...
Reimann HA.It is conceivable that a change from the virulent, non-phagocytable S form of Pneumococcus to the avirulent phagocytable R form may take place in pneumococcus disease, but the experiments here reported do not settle the question whether or not this is an important factor in determining the outcome in natural infection. It has been shown experimentally that the degradation from the S form to the R form actually does take place in cultures of Pneumococcus growing in agar subcutaneously embedded in guinea pigs, in agar enclosed in vials subcutaneously embedded in rabbits, and spontaneously in the...
Hubbert WR.1. Better results in the production of diphtheria antitoxin can be obtained with greater experience in the selection of the most suitable type of horses to be used. Young animals are usually to be preferred. Over one-half of all such horses can be made to yield 300-unit serum, while a third will yield (5)oo-unit serum. 2. High-test horses require a shorter time to immunize and will yield a potent serum for a longer period than will low-test horses. 3. The period of usefulness of an antitoxin horse is short, and on an average endures only a few months. 4. A horse having attained a maximal antit...
The Estonian Native Horse (ENH) is a medium-size pony found mainly in the western islands of Estonia and is well-adapted to the harsh northern climate and poor pastures. The ancestry of the ENH is debated, including alleged claims about direct descendance from the extinct Tarpan. Here we conducted a detailed analysis of the genetic makeup and relationships of the ENH based on the genotypes of 15 autosomal short tandem repeats (STRs), 18 Y chromosomal single nucleotide polymorphisms (SNPs), mitochondrial D-loop sequence and lateral gait allele in DMRT3. The study encompassed 2890 horses of 61 b...
The primer set for 16S rDNA amplified an amplicon of about 1500 bp in length for three strains of Taylorella equigenitalis (NCTC11184(T), Kentucky188 and EQ59). Sequence differences of the 16S rDNA among the six sequences, including three reference sequences, occurred at only a few nucleotide positions and thus, an extremely high sequence similarity of the 16S rDNA was first demonstrated among the six sequences. In addition, the primer set for 16S-23S rDNA internal spacer region (ISR) amplified two amplicons about 1300 bp and 1200 bp in length for the three strains. The ISRs were estimated to ...
The goal of this research was to evaluate the ability of the genotyping information available in the Brazilian Criollo Horse Stud Book to describe the genetic variability of the breed and the exclusion probability determined in comparative tests. Altogether, two softwares were used in the analyses of the available genotypes: Cervus 3.0.3 and Genepop 4.0. Eight microsatellite markers totaled 109 alleles, with an average of 13.6 +/- 0.6 alleles per locus. Large differences between expected and observed heterozygosity were ubiquitous (0.821 +/- 0.07 and 0.470 +/- 0.17, respectively). Although the...
Mojsiejczuk L, Whitlock F, Chen H, Magill C, Aranday-Cortes E, Bone J, Tong L, Da Silva Filipe A, Bryant N, Newton JR, Chambers TM, Reedy SE....Influenza A viruses (IAVs) are prime examples of emerging viruses in humans and animals. IAV circulation in domestic animals poses a pandemic risk as it provides new opportunities for zoonotic infections. The recent emergence of H5N1 IAV in cows and subsequent spread over multiple states within the USA, together with reports of spillover infections in humans, cats and mice highlight this issue. The horse is a domestic animal in which an avian-origin IAV lineage has been circulating for >60 years. In 2018/19, a Florida Clade 1 (FC1) virus triggered one of the largest epizootics recorded in the ...
Moroudi RS, Mahboudi H, Mahboudi F.The Dareshouri horse breed is one of Iran's native equine breeds, originating from the Dareshouri tribe, a subgroup of the Qashqai nomads. This breed has a history spanning over 500 years. Horses of this breed have smooth nates, tall stature, raised tails and strong skeletal muscles. This is the first study to investigate the effect of genetics on athletic performance in the Dareshouri breed. For this purpose, in this study, the genotype combination of two important variants, including the rs397152648Single nucleotide polymorphism (SNP) and Short interspersed nuclear element (SINE) insertion, ...
Dash SK, Panda S, Karna DK, Mishra C, Kalaignazhal G.The present study aimed to identify significant morphometric traits in Malkangiri ponies of Odisha through principal component analysis. The data were collected randomly from 200 ponies aged more than five years and 13 morphometric traits alongwith three indices were recorded. The mean height at wither, height at croup, body length, chest girth, punch girth, height at forearm, height at hock, fetlock to coronet, chest width, neck circumference, poll to wither, wither to croup and croup to head of the tail were 126.7 ± 0.39, 122.6 ± 0.29, 107.9 ± 0.2, 122 ± 0.31, 118.6 ±...
Firshman AM, Valberg SJ.Type 1 Polysaccharide Storage Myopathy (PSSM1) is an autosomal dominant glycogen storage disorder affecting more than 20 breeds of horses that can present with a variety of signs, including exertional rhabdomyolysis (ER). It is diagnosed by genetic testing or muscle biopsies containing muscle fibers with abnormal amylase-resistant polysaccharide. Type 2 PSSM has recently been subdivided. PSSM2-ER is a glycogen storage disorder identified in Quarter Horses that causes ER and is diagnosed by muscle biopsy as its genetic basis is unknown. Both PSSM1 and PSSM2-ER respond well to a low nonstructura...
Błaszczak A, Stefaniuk-Szmukier M, Długosz B, Musiał AD, Olczak K, Ropka-Molik K. The Hucul horse breed formed in the region of the Eastern Carpathians, likely through the natural crossbreeding of oriental horses. After World War II, their population significantly decreased, leading to the breeding being based on only 14 female lines, whose founders often had unknown origins. To preserve the breed's unique characteristics, it is now part of a Genetic Resources Conservation Program, which prioritizes the maintenance of genetic diversity. This study aims to clarify the maternal relatedness of founder mares and assess genetic diversity using mitochondrial DNA (mtDNA). The hy...
Uprety T, Soni S, Sreenivasan C, Hause BM, Naveed A, Ni S, Graves AJ, Morrow JK, Meade N, Mellits KH, Adam E, Kennedy MA, Wang D, Li F.Equine rotavirus species A (ERVA) G3P[12] and G14P[12] are two dominant genotypes that cause foal diarrhoea with a significant economic impact on the global equine industry. ERVA can also serve as a source of novel (equine-like) rotavirus species A (RVA) reassortants with zoonotic potential as those identified previously in 2013-2019 when equine G3-like RVA was responsible for worldwide outbreaks of severe gastroenteritis and hospitalizations in children. One hurdle to ERVA research is that the standard cell culture system optimized for human rotavirus replication is not efficient for isolatin...
Ming KM, Le Verger K, Geiger M, Schmelzle T, Georgalis GL, Shimbo G, Sasaki M, Ohdachi SD, Sánchez-Villagra MR.The horse () varieties from Skyros and Rhodes islands (Greece) in the Aegean archipelago are extremely small, reaching shoulder heights of only about 1 m. Furthermore, the Japanese archipelago is home to eight small, native horse breeds. We investigated the evolutionary morphology and provided a review of historical documentations of these horses of cultural interest in Greece and Japan, thus providing a comparison of the independent evolution of small size in islands. We integrate cranial data from historical literature with data from newly gathered and curated skulls and analyse a measureme...
Hassanien RT, Thieulent CJ, Carossino M, Li G, Balasuriya UBR.(1) Background: equid alphaherpesvirus-1 (EHV-1) is a highly contagious viral pathogen prevalent in most horse populations worldwide. Genome-editing technologies such as CRISPR/Cas9 have become powerful tools for precise RNA-guided genome modifications; (2) Methods: we designed single guide RNAs (sgRNA) to target three essential (ORF30, ORF31, and ORF7) and one non-essential (ORF74) EHV-1 genes and determine their effect on viral replication dynamics ; (3) Results: we demonstrated that sgRNAs targeting essential lytic genes reduced EHV-1 replication, whereas those targeting ORF74 had a negligi...
Dahlgren AR, Careddu F, Norris JW, Adili R, Kropp EM, Li Q, Holinstat M, Biunno I, Balduini A, Tablin F, Shavit JA, Finno CJ.SEL1L is a well-known protein in the endoplasmic reticulum associated degradation (ERAD) pathway. While it is known to be expressed in platelets, SEL1L has never been shown to play an active role. Here we find evidence that SEL1L regulates platelet function. We first identified SEL1L through the study of Atypical Equine Thrombasthenia (AET), an autosomal recessive platelet disorder found in Thoroughbred horses. A missense variant in (c.1810A>G p.Ile604Val) was found in AET-affected horses, which we show is associated with decreased protein expression. SEL1L is intracellular in equine platelet...
Wang X, Shen Y, Ren H, Yi M, Bou G.Genomic imprinting is critical for mammalian development, but its regulation varies across species. The insulin-like growth factor 2 receptor (IGF2R), which is a maternally expressed imprinted gene critical for cell proliferation and differentiation, as well as embryonic and placental development, is classically regulated by differentially methylated regions (DMRs) and lncRNA- in mice. However, studies on this in equus are scarce, especially in terms of mechanistic studies. In the present study, heart, liver, spleen, lung, kidney, brain, and muscle samples were obtained from horses, donkeys, a...
Stimpson S, Molloy E, Davis BW, Esparza B, Rosa LP, Illanes O.Grey coat color in horses, resulting from a 4.6 kb copy number variation (CNV) within the syntaxin 17 (STX17) gene (Grey locus), is linked to progressive hair depigmentation and a markedly increased risk of melanoma, likely to its function as a melanocyte-specific enhancer. Objective: This report details the clinical, pathological, and genomic findings of a 26-year-old flea-bitten grey mare with multiple melanocytic tumors, progressive dyspnea, and congestive heart failure. Due to the poor prognosis the horse was euthanized and submitted for necropsy to the Long Island University - Lewyt Colle...
Tau RL, Marandino AE, Panzera Y, Alamos F, Vissani MA, Romera SA, Pérez R, Maidana SS.The Equid alphaherpesvirus type 1 (EHV-1) infection can have devastating economic consequences in the horse industry due to large-scale outbreaks of abortions, perinatal foal mortality, and myeloencephalopathy. The present study analyzed the genome of two isolates obtained from aborted fetuses in Argentina, E/745/99 and E/1297/07. The E745/99 genome shares 98.2% sequence identity with Ab4, a reference EHV-1 strain. The E/1297/07 genome shares 99.8% identity with NY03, a recombinant strain containing part of ORF64 and part of the intergenic region from Equid alphaherpesvirus-4 (EHV-4). The E/12...
Zhang Y, Guo X, Yu M, Sun L, Qu Y, Guo K, Hu Z, Liu D, Zhang H, Wang X.Host ANP32 family proteins are crucial for maintaining the activity of influenza RNA polymerase and play an important role in the cross-species transmission of influenza viruses. To date, the molecular properties of equine ANP32 (eqANP32) protein are poorly understood, particularly the mechanisms that affect equine influenza virus (EIV) RNA polymerase activity. Here, we found that there are six alternative splicing variants of equine ANP32A (eqANP32A) with different levels of expression. Further studies showed that these six splicing variants of eqANP32A supported the activity of EIV RNA polym...
Masuda M, Tozaki T, Kawate K, Furukawa R, Kikuchi M, Ishige T, Kakoi H.The Miyako horse is one of the eight Japanese native horse breeds and is scarce in terms of population size. Japanese native horses are believed to be descended from Mongolian horses and represent a precious lineage that has preserved its traits for over a thousand years in Japan. Genetic analysis of the endangered Miyako horse is useful for preserving its original phenotypic traits. This study analysed the genetic variation in trait-related genes for coat colour (), body composition (), gait (), and temperament () in 46 extant Miyako horses. In addition, because numerous Miyako horses have ve...
Błaszczak A, Olczak K, Stefaniuk-Szmukier M, Tomczyk-Wrona I, Musiał AD, Grzegorczyk J, Długosz B, Szmatoła T, Ropka-Molik K.Insect bite hypersensitivity (IBH) is a prevalent allergic skin disease in horses that significantly affects animal welfare and shows evidence of genetic predisposition. Objective: Understanding the genetic basis of IBH can improve management and breeding strategies. The Equine80K BeadChip microarray was used to identify genomic regions associated with the occurrence of IBH in Hucul horses. Methods: Hair samples were collected from 127 Hucul horses, including both affected individuals and controls. DNA was extracted and genotyped. A genome-wide association study (GWAS) was performed to identif...
An T, Dugarjaviin M.(1) Background: The "Bider marking" on the shoulder of the Dun Mongolian horse represents a unique pigmentation pattern, the molecular formation mechanism of which remains incompletely understood. This study investigates the differential expression and protein localization of pigment-related genes-specifically the core transcription factor , as well as , , and -in the skin. The analysis focuses on three distinct regions: the dark-colored area of the 'Bider marking' shoulder (BIDC), the light-colored area of the 'Bider marking' shoulder (BILC), and the non-Bider-marked shoulder area (NBIS). The...
Gómez MD, Sánchez-Guerrero MJ, Perdomo-González DI, Ripollés-Lobo M, Bartolomé E, Valera M.This study evaluates performance data and genetic merit of the main horse populations competing in Olympic disciplines in Spain and examines their implications for the optimization of official Breeding Programs. Performance records from 2004-2023 were analyzed, including 101,093 participations in Dressage, 319,000 in Show Jumping, and 17,535 in Eventing. These records were combined with pedigree information from 35,589 horses in Dressage, 33,935 in Show Jumping, and 12,102 in Eventing and evaluated using BLUP animal models to obtain standardized Estimated Breeding Values (EBV; mean 100 ± 20) ...
Vargas-Pérez MÁ, Laseca N, Demyda-Peyrás S, Valera M, Ziadi C, Arjona-Delgado MY, Molina A.Long non-coding RNAs (lncRNAs) are transcripts constituted of more than 200 nucleotides that have been associated with the regulation of different biological processes by modulating the expression of key genes. In horses, evidence suggests that lncRNAs play a role in female reproductive fitness, yet their functional implications remain poorly characterized. The objective of this study was to investigate potential DNA:RNA triplex interactions between the promoter regions of fertility-related genes and lncRNAs transcribed from non-coding loci located within ±50 kb of these genes. By doing so, w...
Liu L, Cao H, Ma H, Chen B, Liu W.H3K4me3, a well-established histone modification associated with active promoters, plays a critical role in orchestrating gene expression programs that govern mammary gland development and lactation. In this study, we present the first comprehensive epigenomic profiling of H3K4me3 modifications during mammary gland development in Yili horses using Cleavage Under Targets and Tagmentation (CUT&Tag) and RNA sequencing. Mammary gland tissues were collected from two developmental stages-early lactation and peak lactation. A total of 393 differentially expressed genes (DEGs) were identified betw...
Ropka-Molik K, Musiał AD, Majtyka A, Bieniek A, Ayad A, Muszyński S, Stefaniuk-Szmukier M.The DMRT3 gene, often referred to as the "gait keeper," plays a key role in controlling alternative gaits in horses, such as tölt and pace. This study aimed to determine the frequency of known and to screen for potential novel polymorphisms within the second exon of the DMRT3 gene. Methods: A total of 244 blood or hair samples were collected from representative individuals of the six horse breeds: gaited (Icelandic Horse, French Trotter), non-gaited (Arabian Horse, Malopolski Horse), and pony breeds (Welsh Pony, Shetland Pony). Methods: The second exon of the DMRT3 gene analyzed using Sanger ...
Mienaltowski MJ, Hernandez S, Nastrini E, Wickens CL, McCue ME, Rosa LP, Norton EM, McCoy AM, Brooks SA.The S1094 United States Department of Agriculture Multistate Research Project is a collaborative effort utilizing equine genetics and genomics to improve horse health and well-being. It also provides educational resources and genetic testing tools to equine industry stakeholders. Objective: A survey assessed the knowledge, priorities, and information sources of U.S. horse owners and enthusiasts regarding equine genetic testing to inform future outreach and research efforts. Methods: An online survey was distributed from March to October 2024, targeting horse owners and enthusiasts across the U...
Liang S, Xu Z, Liu X, Yang Y, Zhao L, Hu C, Hou J, Wei Z, Zhang Y, Li D, Yang J, Zhang J, Bi J, Wang Y, Lou Z.Western equine encephalitis virus (WEEV), a group of encephalitic alphaviruses that cause severe diseases in humans and equids, historically used the very-low-density lipoprotein receptor (VLDLR) as a receptor during infection. However, current epidemic strains no longer use VLDLR as a receptor. In this study, we identify that LA1, LA2, LA3, and LA5 of VLDLR can directly interact with WEEV. Using cryo-electron microscopy, we investigate the structures of complexes formed between WEEV and VLDLR-LBD or other VLDLR fragments. Our findings show that LA1 and LA2 insert into a cleft formed by two ad...
Liu F, Zhang J, Kong L, Wu R, Jiang Q, Lu Y, Li X.As an interspecies hybrid inheriting genetic material from horse and donkey lineages, mules provide a unique model for studying allele-specific regulatory dynamics. Here, we isolated adult fibroblasts (AFs) and placental fibroblasts (PFs) from mule tissues and reprogrammed them into induced pluripotent stem cells (iPSCs). Intriguingly, placental fibroblast-derived iPSCs (mpiPSCs) exhibited reduced reprogramming efficiency compared to adult fibroblast-derived iPSCs (maiPSCs). Through allele-specific expression (ASE) analysis, we systematically dissected transcriptional biases in parental cell t...
Crooijmans RPMA, Gonzalez Prendes R, Colli L, Del Corvo M, Barbato M, Somenzi E, Tosser-Klopp G, Meszaros G, Ajmone-Marsan P, Weigend S, Wallner B....Molecular genetic characterization of genetic resources is essential to study biodiversity. Whereas whole genome sequencing is still relatively expensive, low density SNP arrays offer a cost-effective and standardized solution. However, most of the current arrays are species specific. Their high SNP density often exceeds diversity mapping requirements and remains too costly for many genetic resource managers. The IMAGE H2020 project aimed at developing a low-cost multispecies SNP array to facilitate mapping of the genetic diversity in samples stored in gene banks and in vivo (on farm) traditi...
Yang X, Wen L, Wen M, Yao X, Meng J, Zeng Y, Ren W.Equus caballus is a species of considerable economic and cultural significance. However, the regulatory networks involved in equine sexual maturation remain unclear and eventually limit its reproduction and utilization. In this study, testicular tissues from eight Kazakh horses at two developmental stages (2 years, representing pre-maturation, and 3 years, representing post-maturation) were analyzed using whole transcriptome sequencing, data-independent acquisition (DIA) proteomics, and untargeted metabolomics. An integrated regulatory network was constructed encompassing ceRNA, mRNA, prot...
Embryonic stem cells (ESCs) have proven to be a great model that faithfully recapitulates the events that occur during embryogenesis, making them a unique tool to study the cellular and molecular mechanisms that define tissue specification during embryonic development. Livestock ESCs are particularly attractive and have broad prospects including drug selection and human disease modeling, improvement of reproductive biotechniques and agriculture-related applications such as production of genetically modified animals. While mice and human ESCs have been established many years ago, no significa...
Furukawa R, Tozaki T, Kawate K, Kikuchi M, Ishige T, Fukui E, Kakoi H.A subset of single-nucleotide polymorphisms (SNPs) are associated with various phenotypes, including diseases, coat colour, and athletic performance, and are widely used in medical and veterinary fields. In this study, we developed a novel method for direct SNP genotyping from whole blood without DNA extraction. Thoroughbred blood samples were diluted 100-fold with Milli-Q water and analysed using real-time polymerase chain reaction (PCR) with hydrolysis probes. Specificity and sensitivity were improved by increasing the annealing temperature and number of PCR cycles. Genotyping results for SN...
Gmel AI, Pirani A, McInnis L, Neuditschko M.Single nucleotide polymorphism (SNP) arrays are commonly used in livestock genetics to investigate complex traits including genome-wide associations and fine mapping, genomic prediction and genetic diversity analyses. In a European equine diversity study, we analysed the AxiomTM Equine 670K SNP genotype data from 2,768 equids representing 20 horse breeds and one donkey breed. Using a strict detection setting to identify genome-wide runs of homozygosity (ROH), 169 purebred horses displayed fewer ROH segments than F1 crosses. Under medium and relaxed settings, ROH counts increased, while some ho...
Nehme-Haily J, Yin L, Diaz V, Lin D, Hu DL.Seventy percent of mammals copulate using repeated pelvic thrusting, while the transfer of sperm requires just a single intromission. Why did thrusting evolve to be the dominant form of sexual intercourse? In this study, we investigate how the rate of sexual pelvic thrusting changes with body size. By analyzing films of copulating mammals, from mice Mus musculus to elephants Elephantidae, we find that bigger animals thrust slower. The rate of pelvic thrusting decreases from 6 Hz for the pocket mouse Pergonathus to 1.3-1.8 Hz for humans to an absence of thrusting for the rhino Rhinocerotidae an...
Kozak S, Merda D, Duquesne F, Breuil MF, Mawhinney I, Petry S.In 2018, a T. asinigenitalis strain (MCE663) was isolated in a Persian onager tested for contagious equine metritis (CEM) in a United Kingdom (UK) zoo. This bacterium had never been reported in the UK and Multilocus Sequence Typing described a new atypically divergent ST (ST60). Although the causative agent of CEM is the bacterium Taylorella equigenitalis, a first natural outbreak of endometritis caused by T. asinigenitalis ST70 was reported in 2019, putting its pathogenic potential into question. In this context, we aimed to further sequence the T. asinigenitalis MCE663 genome and characteriz...
