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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.
The ability to race barefoot is a heritable trait in Standardbred and Coldblooded trotters.
Genetics, selection, evolution : GSE    February 25, 2025   Volume 57, Issue 1 8 doi: 10.1186/s12711-025-00958-2
Berglund P, Andonov S, Jansson A, Olsson C, Lundqvist T, Strandberg E, Eriksson S.In equine sports, shoes are used to protect the hooves from wear and tear. In Swedish trotting races, pulling off the shoes to race barefoot is popular because it improves racing time. Good hoof quality is essential for high-performance horses, but not all trotting horses have hooves that tolerate barefoot racing. The ability to race barefoot is a complex trait that is known to be influenced by environmental factors, but the genetic basis of this trait has not been studied. The aim of this study was to estimate genetic parameters and correlations between estimated breeding values for three nov...
Equus mitochondrial pangenome reveals independent domestication imprints in donkeys and horses.
Scientific reports    February 25, 2025   Volume 15, Issue 1 6803 doi: 10.1038/s41598-025-91564-1
Du W, Sun Q, Hu S, Yu P, Kan S, Zhang W.Mitochondria are semi-autonomous organelles that play a crucial role in the energy budget of animal cells and are closely related to the locomotor abilities of animals. Equidae is renowned for including two domesticated species with distinct purposes: the endurance-oriented donkey and the power-driven horse, making it an ideal system for studying the relationship between mitochondria and locomotor abilities. In this study, to cover the genetic diversity of donkeys, we sequenced and assembled six new mitochondrial genomes from China. Meanwhile, we downloaded the published mitochondrial genomes ...
Endangered Przewalski’s Horse, Equus przewalskii, Cloned from Historically Cryopreserved Cells.
Animals : an open access journal from MDPI    February 20, 2025   Volume 15, Issue 5 613 doi: 10.3390/ani15050613
Novak BJ, Ryder OA, Houck ML, Walker K, Russell L, Russell B, Walker S, Arenivas SS, Aston L, Veneklasen G, Ivy JA, Koepfli KP, Rusnak A, Simek J....Cloning from historically cryopreserved cells offers a potential means to restore lost genetic variation or increase the representation of particular lineages within bottlenecked species, provided such biobanked materials are archived for such genetic rescue applications. One species for which cloning can provide genetic management benefits is Przewalski's horse, . All ~1800 living Przewalski's horses, distributed across ex situ breeding facilities and in situ reintroduction sites, are descended from one or more of the five founder lineages established by the 12 horses captured from the wild b...
The dynamics of gastrointestinal nematodes present in co-grazed host species kept in a Scottish zoological collection.
Veterinary parasitology, regional studies and reports    February 20, 2025   Volume 59 101227 doi: 10.1016/j.vprsr.2025.101227
Kelly RF, Galbraith E, Zahid O, Chaundhry U, Sargison N.Grazing animal species kept in zoological collections can be at risk of significant gastrointestinal nematode (GIN) infections. Little work has been undertaken to understand GIN species dynamics within co-grazed hosts. This study aimed to describe the species diversity of GINs found in faeces of grazing animals in a Scottish zoological collection. Methods: At a single time-point, freshly voided faecal samples were collected randomly from horses, sheep, goats, alpacas and deer. Faecal worm egg counts (FWECs) were conducted using a saturated saline centrifugal flotation cuvette technique. The ne...
Epidemiology and genetic diversity of Theileria equi and Babesia caballi in draft horses in the Distrito Federal, Brazil.
Tropical animal health and production    February 19, 2025   Volume 57, Issue 2 72 doi: 10.1007/s11250-025-04321-x
Fernandes TA, Paulino PG, Dos Santos Juliano D, Rabello CA, de Oliveira NVB, de Souza Santana M, Peckle M, Massard CL, da Costa Angelo I, Jacob JCF....Equine piroplasmosis (EP) is a reportable disease according to the World Organization for Animal Health (WOAH), caused by Babesia caballi, Theileria equi and T. haneyi. This syndrome is prevalent in tropical and subtropical regions, including various areas in Brazilian. This study examines EP in the Distrito Federal, Brazil, focusing on prevalence, epidemiological characteristics, and circulating genotypes. Epidemiological data and whole blood samples were collected from horses in the Distrito Federal. DNA was analyzed using qPCR for Theileria sp. and B. caballi, followed by cPCR for 18S rDNA ...
A narrative review on MicroRNA’s role in diagnosis and therapy of equine endometritis.
Journal of reproductive immunology    February 19, 2025   Volume 169 104459 doi: 10.1016/j.jri.2025.104459
Asif S, Gulzar MW.Endometritis is a significant cause of infertility in mare. Some infectious agents disrupt the endometrium's innate immune system, resulting in a prolonged systemic inflammatory response that circulates via the blood or cellular degeneration, which ultimately leads to endometritis from bacterial endotoxins. Numerous biological processes use various small, non-coding RNA molecules called MicroRNAs. MicroRNAs (miRNAs) regulate gene expression after transcription by blocking transcription and translation. This manuscript examines patho-morphological discoveries in equine endometritis, the express...
Cerebellar abiotrophy in a quarter horse foal.
Journal of equine veterinary science    February 16, 2025   Volume 147 105386 doi: 10.1016/j.jevs.2025.105386
Primo ALM, Assis DM, Santos VGS, de Melo LRB, da Nóbrega LD, Medeiros Dantas AF, Maciel TA.Cerebellar abiotrophy is a neurodegenerative disease that affects the Purkinje cells of the cerebellum, resulting in premature neuronal death. In horses, its occurrence has been reported mainly in the Arabian breed as a congenital mutation inherited in an autosomal recessive manner. The objective of this study was to describe the case of cerebellar abiotrophy in a Quarter Horse foal. An 8-day-old foal was treated after presenting signs of ataxia, hypermetria, difficulty maintaining a standing position, and decreased menace response. The foal was hospitalized for 26 days, received treatment wit...
A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis.
Animal genetics    February 16, 2025   Volume 56, Issue 1 e70004 doi: 10.1111/age.70004
van der Graaf L, Leigh W, Szmatoła T, Roberts K, Ryan S, Brown B, Van Buren S, Finno CJ, Petersen JL.Anhidrosis is defined as a decreased or absent ability to sweat in response to heat and exercise. In horses, this condition can increase the risk of life-threatening hyperthermia. A prior study has suggested that equine anhidrosis is associated with a missense variant (rs68643109) in the Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4 (KCNE4) gene. This project aimed to validate this association in a population of well-phenotyped horses and to determine the allele frequency of this variant in publicly available whole-genome sequence data. Fifty horses within the University of ...
Sequencing and Assembling the Genome of Przewalski’s Horse in the Classroom.
Journal of equine veterinary science    February 15, 2025   105383 doi: 10.1016/j.jevs.2025.105383
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...
Comparative phylogenetic and sequence identity analysis of internal transcribed spacer 2 and cytochrome C oxidase subunit I as DNA barcode markers for the most common equine Strongylidae species. Diekmann I, Krücken J, Kuzmina TA, Bredtmann CM, Louro M, Kharchenko VA, Tzelos T, Matthews JB, Madeira de Carvalho LM, von Samson-Himmelstjerna G.Morphologically, 64 strongylid species have been described in equines. Co-infections are common, with up to 29 species reported in a single horse. Morphological identification of these species is time consuming and requires expert knowledge due to their similar appearance. Therefore, non-invasive identification methods are needed. DNA barcoding offers a rapid and reliable tool for species identification and the discovery of cryptic species for these most common parasitic nematodes of equines. In total, 269 COI and 312 ITS-2 sequences from 27 equine Strongylidae species, including sequences fro...
Innate Immunity Toll-Like Triad TLR6-1-10 and Its Diversity in Distinct Horse Breeds.
Veterinary medicine and science    February 7, 2025   Volume 11, Issue 2 e70230 doi: 10.1002/vms3.70230
Stejskalova K, Vychodilova L, Janova E, Oppelt J, Horin P.Toll-like receptors (TLRs) play important roles in innate immunity and developmental processes. Due to their nature as molecular pattern recognition receptors, their genetic diversity may reflect the effects of various pathogen pressures. Here, the extent of variability in the TLR1-6-10 gene cluster in three geographically and historically distinct breeds of horses was analysed. A genetically diverse group of representatives of 14 other horse breeds provided additional information on the variability of this gene cluster in the domestic horse. Altogether, 25 SNPs were identified in the TLR6-1-1...
Estimation of genetic parameters of body conformation and racing performance traits in Yili horses.
Journal of equine veterinary science    February 6, 2025   Volume 146 105378 doi: 10.1016/j.jevs.2025.105378
Wang C, Zeng Y, Wang J, Wang T, Li X, Shen Z, Meng J, Yao X.The Yili horse is a riding-type breed that has been continuously bred independently in China. The genetics of body conformation and racing performance traits need to be comprehensively considered in making breeding decisions. This study is the first to estimate the genetic parameters of 13 body conformation and racing performance traits in Yili horses using a linear model. In total, 9937 body conformation and 2576 race records of 9100 Yili horses obtained from 1993 to 2022 were reviewed. The results showed that heritability estimates of body measurement traits were medium to high, ranging from...
Molecular Diagnosis and Identification of Equine Piroplasms: Challenges and Insights from a Study in Northern Italy.
Animals : an open access journal from MDPI    February 5, 2025   Volume 15, Issue 3 437 doi: 10.3390/ani15030437
Facile V, Magliocca M, Dini FM, Imposimato I, Mariella J, Freccero F, Urbani L, Rinnovati R, Sel E, Gallina L, Castagnetti C, Galuppi R, Battilani M....Equine piroplasmosis is a tick-borne disease caused by and species. Despite its presence in Europe, no laboratory testing is required for animal movement, even though some countries remain free of this disease. Differentiating between species and genotypes is crucial to determine the most effective treatment, as dosage, active compounds, and duration vary. However, diagnosis is often challenging due to genetic variability and the limited sensitivity of molecular methods. The aims of this study were to compare the performances of different molecular diagnostic tests to identify the most effec...
The value of using multilevel performances (from recreational to international) to the genetic evaluation for show jumping performance in Warmblood horses.
Animal : an international journal of animal bioscience    February 5, 2025   Volume 19, Issue 3 101455 doi: 10.1016/j.animal.2025.101455
Chapard L, Gorssen W, Meyermans R, Hooyberghs K, Buys N, Janssens S.Show jumping is a popular equestrian sport that requires a unique combination of jumping capacity and rideability. It has been shown that genetics play an important role in show jumping performance that has significant implications for horse breeding programmes. This gives an important opportunity for studbooks to breed horses with the potential to perform at the highest level in show jumping competitions. However, show jumping competitions are performed at various levels (from recreational to international level) but only national competition results are used by Warmblood studbooks in most ge...
Effects of Combined Transcriptome and Metabolome Analysis Training on Athletic Performance of 2-Year-Old Trot-Type Yili Horses.
Genes    February 4, 2025   Volume 16, Issue 2 197 doi: 10.3390/genes16020197
Yang L, Li P, Huang X, Wang C, Zeng Y, Wang J, Yao X, Meng J.Training is essential for enhancing equine athletic performance, but the genetic mechanisms that regulate athletic performance are unknown. Therefore, this paper aims to identify candidate genes and metabolic pathways for the effects of training on equine athletic performance through multi-omics analyses. Methods: The experiment selected 12 untrained trot-type Yili horses, which underwent a 12-week professional training program. Blood samples were collected at rest before training (BT) and after training (AT). Based on their race performance, whole blood and serum samples from 4 horses were ch...
Core genome multilocus sequence typing schemes for epidemiological investigation of Taylorella equigenitalis and Taylorella asinigenitalis.
Veterinary microbiology    January 30, 2025   Volume 302 110419 doi: 10.1016/j.vetmic.2025.110419
Kozak S, Merda D, Chesnais V, Breuil MF, Harrison M, Zdovc I, Golob M, Petry S, Duquesne F.Taylorella equigenitalis is the causative agent of contagious equine metritis, an internationally regulated sexually-transmitted infection in horses, which is of great concern as it usually results in temporary infertility. Taylorella asinigenitalis, the second member of the genus, is mainly found in donkeys and is considered non-pathogenic, although a first natural outbreak was reported in 2019 in the United Arab Emirates. Multilocus sequence typing (MLST) is currently used to study the epidemiology of Taylorella spp. but, while highly transposable and reproducible, it only focuses on < 0.5...
A comprehensive allele specific expression resource for the equine transcriptome.
BMC genomics    January 30, 2025   Volume 26, Issue 1 88 doi: 10.1186/s12864-025-11240-6
Heath HD, Peng S, Szmatola T, Ryan S, Bellone RR, Kalbfleisch T, Petersen JL, Finno CJ.Allele-specific expression (ASE) analysis provides a nuanced view of cis-regulatory mechanisms affecting gene expression. Results: An equine ASE analysis was performed, using integrated Iso-seq and short-read RNA sequencing data from four healthy Thoroughbreds (2 mares and 2 stallions) across 9 tissues from the Functional Annotation of Animal Genomes (FAANG) project. Allele expression was quantified by haplotypes from long-read data, with 42,900 allele expression events compared. Within these events, 635 (1.48%) demonstrated ASE, with liver tissue containing the highest proportion. Genetic var...
Genome sequence of Equine Erythroparvovirus 1, identified in the United States.
Microbiology resource announcements    January 29, 2025   e0089724 doi: 10.1128/mra.00897-24
Yu YT, Olarte Castillo X, Reboul G, Zehr J, Sun Y, Anderson R, Wang M, Sun Q, Tallmadge R, Sams K, Brown J, Marra N, Stanhope B, Grenier J.... is a parvovirus that was identified in the blood of four horses in the United States. Here, we report one genome from a horse in New York State. This genome may represent a new species within the genus .
Genetics of Muscle Disease.
The Veterinary clinics of North America. Equine practice    January 28, 2025   S0749-0739(24)00088-9 doi: 10.1016/j.cveq.2024.10.002
Finno CJ.In the field of equine muscle disorders, many conditions have a genetic basis. Therefore, genetic testing is an important part of the diagnostic evaluation. Validated genetic tests are currently available for 5 equine muscle disorders: hyperkalemic periodic paralysis, malignant hyperthermia, glycogen branching enzyme disease, type 1 polysaccharide storage myopathy, and myosin heavy chain myopathy. These diseases should be tested for in the appropriate breeds with clinical signs of disease or as part of breeding management. Genetic testing in veterinary medicine is not regulated, and therefore,...
Myosin Heavy Chain Myopathy and Immune-Mediated Muscle Disorders.
The Veterinary clinics of North America. Equine practice    January 28, 2025   Volume 41, Issue 1 61-75 doi: 10.1016/j.cveq.2024.10.005
Durward-Akhurst SA, Valberg SJ.Several inflammatory myopathies have an infectious or immune-mediated basis in the horse. Myosin heavy chain myopathy is caused by a codominant missense variant in MYH1 and has 3 clinical presentations: immune-mediated myositis, calciphylaxis, and nonexertional rhabdomyolysis in Quarter Horse-related breeds. An infarctive form of purpura hemorrhagica affects numerous breeds, presenting with focal firm, painful muscle swelling, and subsequent infarction of multiple tissues. While Streptococcus equi equi is often the inciting cause, anaplasmosis, sarcocystis, piroplasmosis, viruses, and vaccines...
Inherited non-syndromic polydactyly in a Berber and Arabian-Berber horse family.
Equine veterinary journal    January 24, 2025   doi: 10.1111/evj.14472
Baville E, Carstanjen B, Thomas-Cancian A, Calgaro A, Bonnet N, Tiret L, Gache V, Abitbol M.Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported. Objective: To characterise the phenotype of a non-syndromic pre-axial polydactyly in a horse family and to decipher the inheritance pattern. Methods: Retrospective study. Methods: Forty-three members of the family including a previously reported polydactyl case were recruited. Available clinica...
Comparative Analysis of Genomic and Pedigree-Based Approaches for Genetic Evaluation of Morphological Traits in Pura Raza Española Horses.
Genes    January 23, 2025   Volume 16, Issue 2 131 doi: 10.3390/genes16020131
Ziadi C, Demyda-Peyrás S, Valera M, Perdomo-González D, Laseca N, Rodríguez-Sainz de Los Terreros A, Encina A, Azor P, Molina A.The single-step best linear unbiased predictor (ssGBLUP) has emerged as a reference method for genomic selection in recent years due to its advantages over traditional approaches. Although its application in horses remains limited, ssGBLUP has demonstrated the potential to improve the reliability of estimated breeding values in livestock species. This study aimed to assess the impact of incorporating genomic data using single-step restricted maximum likelihood (ssGREML) on reliability (R) in the Pura Raza Española (PRE) horse breed, compared to traditional pedigree-based REML. Methods: The an...
Unraveling the distinctive gut microbiome of khulans (Equus hemionus hemionus) in comparison to their drinking water and closely related equids.
Scientific reports    January 22, 2025   Volume 15, Issue 1 2767 doi: 10.1038/s41598-025-87216-z
Jarquín-Díaz VH, Dayaram A, Soilemetzidou ES, Desvars-Larrive A, Bohner J, Buuveibaatar B, Kaczensky P, Walzer C, Greenwood AD, Löber U.The microbial composition of host-associated microbiomes is influenced by co-evolutionary interactions, host genetics, domestication, and the environment. This study investigates the contribution of environmental microbiota from freshwater bodies to the gastrointestinal microbiomes of wild khulans (Equus hemionus hemionus, n = 21) and compares them with those of captive khulans (n = 12) and other equids-Przewalski's horse (n = 82) and domestic horse (n = 26). Using PacBio technology and the LotuS pipeline for 16S rRNA gene sequencing, we analyze microbial diversity and conduct ...
Identification of a global gene expression signature associated with the genetic risk of catastrophic fracture in iPSC-derived osteoblasts from Thoroughbred horses.
Animal genetics    January 13, 2025   Volume 56, Issue 1 e13504 doi: 10.1111/age.13504
Palomino Lago E, Ross AKC, McClellan A, Guest DJ.Bone fractures are a significant problem in Thoroughbred racehorses. The risk of fracture is influenced by both genetic and environmental factors. To determine the biological processes that are affected in genetically susceptible horses, we utilised polygenic risk scoring to establish induced pluripotent stem cells (iPSCs) from horses at high and low genetic risk. RNA-sequencing on iPSC-derived osteoblasts revealed 112 genes that were significantly differentially expressed. Forty-three of these genes have known roles in bone, 27 are not yet annotated in the equine genome and 42 currently have ...
Genome wide landscaping of copy number variations for horse inter-breed variability.
Animal biotechnology    January 10, 2025   Volume 36, Issue 1 2446251 doi: 10.1080/10495398.2024.2446251
Sharma NK, Singh P, Saha B, Bhardwaj A, Iquebal MA, Pal Y, Nayan V, Jaiswal S, Giri SK, Legha RA, Bhattacharya TK, Kumar D, Rai A.Copy number variations (CNVs) have become widely acknowledged as a significant source of genomic variability and phenotypic variance. To understand the genetic variants in horses, CNVs from six Indian horse breeds, namely, Manipuri, Zanskari, Bhutia, Spiti, Kathiawari and Marwari were discovered using Axiom™ Equine Genotyping Array. These breeds differed in agro-climatic adaptation with distinct phenotypic characters. A total of 2668 autosomal CNVs and 381 CNV regions (CNVRs) were identified with PennCNV tool. DeepCNV was employed to re-validate to get 883 autosomal CNVs, of which 9.06% were...
A genome-wide association study for recurrent laryngeal neuropathy in the Thoroughbred horse identifies a candidate gene that regulates myelin structure.
Equine veterinary journal    January 10, 2025   doi: 10.1111/evj.14461
McGivney CL, McGivney BA, Farries G, Gough KF, Han H, Holtby AR, MacHugh DE, Katz LM, Hill EW.Equine recurrent laryngeal neuropathy (RLN) is an economically important upper respiratory tract (URT) disease with a genetic contribution to risk, but genetic variants independent of height have not been identified for Thoroughbreds. The method of clinical assessment for RLN is critical to accurately phenotype groups for genetic studies. Objective: To identify genetic risk loci for RLN in Thoroughbreds in a genome-wide association study (GWAS) following high-resolution phenotyping. Methods: Case-control. Methods: Thoroughbred horses were characterised as RLN cases and controls using resting a...
Systemic calcinosis in horses: Pathological and genetic aspects.
Equine veterinary journal    January 6, 2025   doi: 10.1111/evj.14464
Carvalho Serena G, Marchezan Piva M, Viezzer Bianchi M, Fernandes da Fonseca HC, Chitolina Pupin R, Martins Basso R, Secorun Borges A....In horses, systemic calcinosis is a rare syndrome characterised by muscle lesion associated with the mineralisation of large muscle groups or other organs, in the absence of an alternative cause for the calcification, such as toxic, enzootic or metabolic. Molecular and histopathological aspects of the disease are still poorly elucidated. Objective: To describe the epidemiological, pathological and molecular aspects of systemic calcinosis in a convenience sample of six horses submitted to necropsy in the Southern and Midwestern regions of Brazil. Methods: Retrospective exploratory study. Method...
Single-Step Genome-Wide Association Study of Factors for Evaluated and Linearly Scored Traits in Swedish Warmblood Horses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    January 4, 2025   Volume 142, Issue 5 499-512 doi: 10.1111/jbg.12923
Nazari-Ghadikolaei A, Fikse WF, Viklund ÅG, Mikko S, Eriksson S.Swedish Warmblood horses (SWB) are bred for show jumping and/or dressage with young horse test scores as indicator traits. This study aimed to investigate possible candidate genes and regions of importance for evaluated and linearly scored young horse test traits. A single-step genome-wide association study (ssGWAS) was done using the BLUPF90 suite of programs for factors scores from factor analysis of traits assessed at young horse tests together with height at withers. The ssGWAS included 20,814 SWB with factors scores for four factors for evaluated traits. A total of 6436 of these horses al...
Factors associated with the selling price of sport horses in public auctions in Ireland.
Journal of equine veterinary science    January 3, 2025   105347 doi: 10.1016/j.jevs.2025.105347
Corbally AF, Fahey AG.Sale prices at auction significantly impact the economic return of sport horse production. This study aimed to determine factors associated with auction sales prices of sport horses at four maturity stages: foals, juveniles, young horses, and older horses. A total of 42,799 sales records from 2003 to 2022 were obtained from two Irish equine auction companies. A univariate regression model was used, and significant variables underwent multivariate analysis. Within each maturity category, factors associated with above-mean-priced horses differed from those associated with below-mean-priced horse...
Molecular Characterization of Bovine Deltapapillomavirus in Equine Sarcoids in Egypt.
Veterinary medicine international    January 3, 2025   Volume 2025 9773642 doi: 10.1155/vmi/9773642
Sobhy NM, Refaai W, Kumar R, Bottros Youssef CR, Goyal SM.Bovine papillomaviruses (BPVs) commonly cause sarcoids in equines worldwide. Equine sarcoids (ESs) reduce the working ability of draft animals and produce untoward cosmetic changes in racing and dancing equine. In this study, nine horses and 16 donkeys with sarcoids were presented to Zagazig University Veterinary Clinic, Zagazig, Egypt. Of these, eight horses and six donkeys were found to be infected with BPV. On sequencing, all 14 viruses were found to be BPV1, which were distributed in two clades without specific differentiation among papillomaviruses (PVs) of donkeys, horses, and cattle. Co...