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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.
Age-Related Changes in Locomotor Performance Reveal a Similar Pattern for Caenorhabditis elegans, Mus domesticus, Canis familiaris, Equus caballus, and Homo sapiens.
The journals of gerontology. Series A, Biological sciences and medical sciences    August 16, 2016   Volume 72, Issue 4 455-463 doi: 10.1093/gerona/glw136
Marck A, Berthelot G, Foulonneau V, Marc A, Antero-Jacquemin J, Noirez P, Bronikowski AM, Morgan TJ, Garland T, Carter PA, Hersen P, Di Meglio JM....Locomotion is one of the major physiological functions for most animals. Previous studies have described aging mechanisms linked to locomotor performance among different species. However, the precise dynamics of these age-related changes, and their interactions with development and senescence, are largely unknown. Here, we use the same conceptual framework to describe locomotor performances in Caenorhabditis elegans, Mus domesticus, Canis familiaris, Equus caballus, and Homo sapiens. We show that locomotion is a consistent biomarker of age-related changes, with an asymmetrical pattern througho...
Friesian horses as a possible model for human acquired aortopulmonary fistulation.
BMC research notes    August 15, 2016   Volume 9, Issue 1 405 doi: 10.1186/s13104-016-2201-5
Saey V, Vandecasteele T, van Loon G, Cornillie P, Ploeg M, Delesalle C, Gröne A, Gielen I, Ducatelle R, Chiers K.Acquired aortopulmonary fistulation is a rare condition in humans. It usually results as a late complication of a true or pseudoaneurysm of the thoracic aorta. It is most commonly associated with trauma or surgery, less commonly with atherosclerosis, inflammation, hypertension or Marfan's syndrome. Aortopulmonary fistulation is also seen as a rare complication of acute aortic dissection. On rare occasions, acquired aortopulmonary fistulation is reported in aged patients without any of the above mentioned triggering factors. Thus, these cases should be considered as idiopathic aortopulmonary fi...
Identification and characterization of equine blood plasmacytoid dendritic cells.
Developmental and comparative immunology    August 11, 2016   Volume 65 352-357 doi: 10.1016/j.dci.2016.08.005
Ziegler A, Marti E, Summerfield A, Baumann A.Dendritic cells (DC) are antigen-presenting cells that can be classified into three major cell subsets: conventional DC1 (cDC1), cDC2 and plasmacytoid DCs (pDC), none of which have been identified in horses. Therefore, the objective of this study was to identify and characterize DC subsets in equine peripheral blood, emphasizing on pDC. Surface marker analysis allowed distinction of putative DC subsets, according to their differential expression of CADM-1 and MHC class II. Equine pDC were found to be Flt3(+) CD4(low) CD13(-) CD14(-) CD172a(-) CADM-1(-) MHCII(low). The weak expression of CD4 on...
Retrospective Analysis of the Equine Influenza Virus A/Equine/Kirgizia/26/1974 (H7N7) Isolated in Central Asia.
Pathogens (Basel, Switzerland)    August 10, 2016   Volume 5, Issue 3 55 doi: 10.3390/pathogens5030055
Karamendin K, Kydyrmanov A, Sayatov M, Strochkov V, Sandybayev N, Sultankulova K.A retrospective phylogenetic characterization of the hemagglutinin, neuraminidase and nucleoprotein genes of equine influenza virus A/equine/Kirgizia/26/1974 (H7N7) which caused an outbreak in Kirgizia (a former Soviet Union republic, now Kyrgyzstan) in 1977 was conducted. It was defined that it was closely related to the strain London/1973 isolated in Europe and it shared a maximum nucleotide sequence identity at 99% with it. This Central Asian equine influenza virus isolate did not have any specific genetic signatures and can be considered as an epizootic strain of 1974 that spread in Europe...
The origin of ambling horses.
Current biology : CB    August 10, 2016   Volume 26, Issue 15 R697-R699 doi: 10.1016/j.cub.2016.07.001
Wutke S, Andersson L, Benecke N, Sandoval-Castellanos E, Gonzalez J, Hallsson JH, Lõugas L, Magnell O, Morales-Muniz A, Orlando L, Pálsdóttir AH....Horseback riding is the most fundamental use of domestic horses and has had a huge influence on the development of human societies for millennia. Over time, riding techniques and the style of riding improved. Therefore, horses with the ability to perform comfortable gaits (e.g. ambling or pacing), so-called 'gaited' horses, have been highly valued by humans, especially for long distance travel. Recently, the causative mutation for gaitedness in horses has been linked to a substitution causing a premature stop codon in the DMRT3 gene (DMRT3_Ser301STOP) [1]. In mice, Dmrt3 is expressed in spinal...
Pigment retinopathy in warmblood horses with equine degenerative myeloencephalopathy and equine motor neuron disease.
Veterinary ophthalmology    August 5, 2016   Volume 20, Issue 4 304-309 doi: 10.1111/vop.12417
Finno CJ, Kaese HJ, Miller AD, Gianino G, Divers T, Valberg SJ.A pigment retinopathy has been reported in adult horses with equine motor neuron disease (EMND) arising from chronic α-tocopherol (α-TP) deficiency. A pigment retinopathy has not been identified in horses with neuroaxonal dystrophy/equine degenerative myeloencephalopathy (NAD/EDM) that affects genetically susceptible young horses with α-TP deficiency. The objective of this report is to describe, for the first time, a pigment retinopathy in a family of α-TP-deficient Warmbloods (WB) with clinically apparent NAD/EDM or EMND. Unassigned: Twenty-five WB horses from one farm underwent complete ...
Kirsten Jackson: Aussie equine vet shares her passion for welfare.
Australian veterinary journal    August 4, 2016   Volume 94, Issue 3 N8-N9 
Berenger M.No abstract available
Heritability of Recurrent Exertional Rhabdomyolysis in Standardbred and Thoroughbred Racehorses Derived From SNP Genotyping Data.
The Journal of heredity    August 3, 2016   Volume 107, Issue 6 537-543 doi: 10.1093/jhered/esw042
Norton EM, Mickelson JR, Binns MM, Blott SC, Caputo P, Isgren CM, McCoy AM, Moore A, Piercy RJ, Swinburne JE, Vaudin M, McCue ME.Recurrent exertional rhabdomyolysis (RER) in Thoroughbred and Standardbred racehorses is characterized by episodes of muscle rigidity and cell damage that often recur upon strenuous exercise. The objective was to evaluate the importance of genetic factors in RER by obtaining an unbiased estimate of heritability in cohorts of unrelated Thoroughbred and Standardbred racehorses. Four hundred ninety-one Thoroughbred and 196 Standardbred racehorses were genotyped with the 54K or 74K SNP genotyping arrays. Heritability was calculated from genome-wide SNP data with a mixed linear and Bayesian model, ...
Cryopreservation of Peruvian Paso horse spermatozoa: dimethylacetamide preserved an optimal sperm function compared to dimethyl sulfoxide, ethylene glycol and glycerol.
Andrologia    August 3, 2016   Volume 49, Issue 6 doi: 10.1111/and.12672
Santiani A, Evangelista-Vargas S, Vargas S, Gallo S, Ruiz L, Orozco V, Rosemberg M.The objective was to evaluate the effect of different cryoprotectant agents in the cryopreservation of Peruvian Paso horse semen. Twenty semen samples were collected from five Peruvian Paso horse stallions. Each sample was divided into 12 parts to form the groups: dimethylacetamide (DMA), dimethyl sulfoxide (DMSO), ethylene glycol (EG) and glycerol (GLY), at 3%, 4% and 5%. Samples were frozen using a rate-controlled freezer. Sperm parameters evaluated were motility and viability/acrosomal status. After thawing, progressive motility in DMA group was higher (p < .05) than in DMSO, EG and GL...
Association between population structure and allele frequencies of the glycogen synthase 1 mutation in the Austrian Noriker draft horse.
Animal genetics    August 1, 2016   Volume 48, Issue 1 108-112 doi: 10.1111/age.12481
Druml T, Grilz-Seger G, Neuditschko M, Brem G.The aim of this study was to determine the allele frequency of the glycogen synthase 1 (GYS1) mutation associated with polysaccharide storage myopathy type 1 in the Austrian Noriker horse. Furthermore, we examined the influence of population substructures on the allele distribution. The study was based upon a comprehensive population sample (208 breeding stallions and 309 mares) and a complete cohort of unselected offspring from the year 2014 (1553 foals). The mean proportion of GYS1 carrier animals in the foal cohort was 33%, ranging from 15% to 50% according to population substructures based...
Influenza virus vaccine for neglected hosts: horses and dogs.
Clinical and experimental vaccine research    July 29, 2016   Volume 5, Issue 2 117-124 doi: 10.7774/cevr.2016.5.2.117
Na W, Yeom M, Yuk H, Moon H, Kang B, Song D.This study provides information regarding vaccine research and the epidemiology of influenza virus in neglected hosts (horses and dogs). Equine influenza virus (EIV) causes a highly contagious disease in horses and other equids, and outbreaks have occurred worldwide. EIV has resulted in costly damage to the horse industry and has the ability of cross the host species barrier from horses to dogs. Canine influenza is a virus of equine or avian origin and infects companion animals that live in close contact with humans; this results in possible exposure to the seasonal epizootic influenza virus. ...
Bone morphogenetic protein 2 stimulates chondrogenesis of equine synovial membrane-derived progenitor cells.
Veterinary and comparative orthopaedics and traumatology : V.C.O.T    July 29, 2016   Volume 29, Issue 5 378-385 doi: 10.3415/VCOT-16-02-0035
Chen Y, Caporali E, Stewart M.Bone morphogenetic protein 2 (BMP-2) is critical for skeletal and cartilage development, homeostasis and repair. This study was conducted to clone and characterize equine BMP-2, develop expression constructs for equine BMP-2, and to determine whether BMP-2 can stimulate chondrogenesis of equine synovial membrane-derived progenitor cells (SMPC). Methods: Equine BMP-2 cDNA was amplified from chondrocyte RNA, and then transferred into an expression plasmid and adenoviral vector. Effective expression of equine BMP-2 was confirmed using a BMP reporter cell line. SMPC were isolated from synovium, ex...
Full-Genome Sequence of a Neuroinvasive West Nile Virus Lineage 2 Strain from a Fatal Horse Infection in South Africa.
Genome announcements    July 28, 2016   Volume 4, Issue 4 e00740-16 doi: 10.1128/genomeA.00740-16
Mentoor JL, Lubisi AB, Gerdes T, Human S, Williams JH, Venter M.We report here the complete genome sequence of a lineage 2 West Nile virus (WNV) strain that resulted in fatal neurological disease in a horse in South Africa. Several recent reports exist of neurological disease associated with lineage 2 WNV in humans and horses in South Africa and Europe; however, there are a lack of sequencing data from recent fatal cases in Southern Africa, where these strains likely originate. A better understanding of the genetic composition of highly neuroinvasive lineage 2 strains may facilitate the identification of putative genetic factors associated with increased v...
Effects of fentanyl administration on locomotor response in horses with the G57C μ-opioid receptor polymorphism.
American journal of veterinary research    July 28, 2016   Volume 77, Issue 8 828-832 doi: 10.2460/ajvr.77.8.828
Wetmore LA, Pascoe PJ, Shilo-Benjamini Y, Lindsey JC.OBJECTIVE To determine the locomotor response to the administration of fentanyl in horses with and without the G57C polymorphism of the μ-opioid receptor. ANIMALS 20 horses of various breeds and ages (10 horses heterozygous for the G57C polymorphism and 10 age-, breed-, and sex-matched horses that did not have the G57C polymorphism). PROCEDURES The number of steps each horse took was counted over consecutive 2-minute periods for 20 minutes to determine a baseline value. The horse then received a bolus of fentanyl (20 μg/kg, IV), and the number of steps was again counted during consecutive 2-...
Equine 5α-reductase activity and expression in epididymis.
The Journal of endocrinology    July 27, 2016   Volume 231, Issue 1 23-33 doi: 10.1530/JOE-16-0175
Corbin CJ, Legacki EL, Ball BA, Scoggin KE, Stanley SD, Conley AJ.The 5α-reductase enzymes play an important role during male sexual differentiation, and in pregnant females, especially equine species where maintenance relies on 5α-reduced progesterone, 5α-dihydroprogesterone (DHP). Epididymis expresses 5α-reductases but was not studied elaborately in horses. Epididymis from younger and older postpubertal stallions was divided into caput, corpus and cauda and examined for 5α-reductase activity and expression of type 1 and 2 isoforms by quantitative real-time polymerase chain reaction (qPCR). Metabolism of progesterone and testosterone to DHP and dihydro...
Species composition of larvae cultured after anthelmintic treatment indicates reduced moxidectin susceptibility of immature Cylicocyclus species in horses.
Veterinary parasitology    July 26, 2016   Volume 227 77-84 doi: 10.1016/j.vetpar.2016.07.029
Kooyman FN, van Doorn DC, Geurden T, Mughini-Gras L, Ploeger HW, Wagenaar JA.For the control of cyathostomins in horses, the macrocyclic lactones (MLs), moxidectin (MOX) and ivermectin (IVM) are the most commonly used anthelmintics. However, reduced activity, observed as shortening of the egg reappearance period (ERP) has been described. Shortening of the ERP may be caused by a decreased susceptibility of immature worms for MLs. Alternatively, immature worms may develop faster into egg producing adults as a result of repeated ML treatments. The species composition of the larval cultures obtained shortly after ML and pyrantel (PYR) treatment can confirm the hypothesis o...
Comparison of a modified phenol/chloroform and commercial-kit methods for extracting DNA from horse fecal material.
Journal of microbiological methods    July 25, 2016   Volume 129 14-19 doi: 10.1016/j.mimet.2016.07.019
Janabi AHD, Kerkhof LJ, McGuinness LR, Biddle AS, McKeever KH.There are many choices for methods of extracting bacterial DNA for Next Generation Sequencing (NGS) from fecal samples. Here, we compare our modifications of a phenol/chloroform extraction method plus an inhibitor removal solution (C3) (ph/Chl+C3) to the PowerFecal® DNA Isolation Kit (MoBio-K). DNA quality and quantity coupled to NGS results were used to assess differences in relative abundance, Shannon diversity index, unique species, and principle coordinate analysis (PCoA) between biological replicates. Six replicate samples, taken from a single ball of horse feces manually collected from ...
Identification of copy number variations in three Chinese horse breeds using 70K single nucleotide polymorphism BeadChip array.
Animal genetics    July 21, 2016   Volume 47, Issue 5 560-569 doi: 10.1111/age.12451
Kader A, Liu X, Dong K, Song S, Pan J, Yang M, Chen X, He X, Jiang L, Ma Y.Copy number variation (CNV), an essential form of genetic variation, has been increasingly recognized as one promising genetic marker in the analysis of animal genomes. Here, we used the Equine 70K single nucleotide polymorphism genotyping array for the genome-wide detection of CNVs in 96 horses from three diverse Chinese breeds: Debao pony (DB), Mongolian horse (MG) and Yili horse (YL). A total of 287 CNVs were determined and merged into 122 CNV regions (CNVRs) ranging from 199 bp to 2344 kb in size and distributed in a heterogeneous manner on chromosomes. These CNVRs were integrated with s...
Strongylids in domestic horses: Influence of horse age, breed and deworming programs on the strongyle parasite community.
Veterinary parasitology    July 21, 2016   Volume 227 56-63 doi: 10.1016/j.vetpar.2016.07.024
Kuzmina TA, Dzeverin I, Kharchenko VA.An extensive analysis of the relationships between strongylid egg shedding in domestic horses and the strongylid community structure in regard to the age of the horses, their breeds and different strategies of horse management, particularly with anthelmintic treatment programs was performed. Domestic horses (n=197) of different ages (5 months to 22 years) and of various breeds from 15 farms with different types of deworming programs were included in this study. Strongylids (totally, 82,767 specimens) were collected in vivo after deworming of the horses with the macrocyclic lactone anthelmintic...
Immune response to bovine papillomavirus type 1 in equine sarcoid.
Veterinary journal (London, England : 1997)    July 20, 2016   Volume 216 107-108 doi: 10.1016/j.tvjl.2016.07.012
Brandt S.No abstract available
Clinical behavior of intraocular teratoid medulloepithelioma in two-related Quarter Horses.
Veterinary ophthalmology    July 20, 2016   Volume 20, Issue 6 551-559 doi: 10.1111/vop.12409
Monk CS, Craft WF, Abbott JR, Farina LL, Reuss SM, Czerwinski SL, Brooks DE, Plummer CE.The objective of this paper is to describe clinical behavior, histopathologic features, and immunohistochemical staining of two-related horses with intraocular teratoid medulloepithelioma. Two-related Quarter Horses with similar intraocular masses presented to the UF-CVM Comparative Ophthalmology Service for evaluation and treatment. The first horse, a 3-year-old gelding, had glaucoma and a cyst-like mass in the anterior chamber. Enucleation was performed. Histopathology revealed a teratoid medulloepithelioma. The tumor was considered to be completely excised. Fifteen months later, the gelding...
RNA expression of TLR10 in normal equine tissues.
BMC research notes    July 19, 2016   Volume 9 353 doi: 10.1186/s13104-016-2161-9
Tarlinton RE, Alder L, Moreton J, Maboni G, Emes RD, Tötemeyer S.Toll like receptors are one of the major innate immune system pathogen recognition systems. There is little data on the expression of the TLR10 member of this family in the horse. Results: This paper describes the genetic structure of the Equine TLR10 gene and its RNA expression in a range of horse tissues. It describes the phylogenetic analysis of the Equine TLR1,6,10,2 annotations in the horse genome, firmly identifying them in their corresponding gene clades compared to other species and firmly placing the horse gene with other TLR10 genes from odd-toed ungulates. Additional 3' transcript e...
Genetic testing in veterinary dermatology.
Veterinary dermatology    July 18, 2016   Volume 28, Issue 1 4-e1 doi: 10.1111/vde.12309
Leeb T, Müller EJ, Roosje P, Welle M.Molecular genetics has made significant advances in the analysis of hereditary dermatoses during the last several years. Objective: To provide an update on currently available genetic tests for skin diseases of dogs, cats and horses, and to aid the veterinary clinician in the appropriate selection and applications of genetic tests. Methods: The scientific literature on the topic was critically reviewed. The list of known causative variants for genodermatoses and hair morphology traits was compiled by searching the Online Mendelian Inheritance in Animals (OMIA) database. Results: Genetic testin...
Candidate gene analysis of osteochondrosis in Spanish Purebred horses.
Animal genetics    July 16, 2016   Volume 47, Issue 5 570-578 doi: 10.1111/age.12453
Sevane N, Dunner S, Boado A, Cañon J.Equine osteochondrosis (OC) is a frequent developmental orthopaedic disease with high economic impact on the equine industry and may lead to premature retirement of the animal as a result of chronic pain and lameness. The genetic background of OC includes different genes affecting several locations; however, these genetic associations have been tested in only one or few populations, lacking the validation in others. The aim of this study was to identify the genetic determinants of OC in the Spanish Purebred horse breed. For that purpose, we used a candidate gene approach to study the associati...
Prevalence of netF-positive Clostridium perfringens in foals in southwestern Ontario.
Canadian journal of veterinary research = Revue canadienne de recherche veterinaire    July 14, 2016   Volume 80, Issue 3 242-244 doi: 10.1371/journal.pone.0122684
Finley A, Gohari IM, Parreira VR, Abrahams M, Staempfli HR, Prescott JF.NetF-producing Clostridium perfringens have recently been identified as a cause of necrotizing enteritis in neonatal foals, but little is known about its prevalence in clinically normal foals. Foals (n = 88) ranging in age from < 1 wk to 2 to 4 mo (median age 2 to 4 wk) on 8 horse-breeding farms in Ontario were examined on 1 or 2 occasions for the presence of C. perfringens. Of the foals that tested positive, 5 isolates (n = 675) were examined for the netF and enterotoxin (cpe) genes. Colonization by C. perfringens was most marked in foals < 1 wk of age [4.85 ± 2.70 log10 colony-forming...
Regulation of Rev expression by the equine infectious anaemia virus tat-rev mRNA Kozak sequence and its potential influence on viral replication.
The Journal of general virology    July 13, 2016   Volume 97, Issue 9 2421-2426 doi: 10.1099/jgv.0.000548
Ma J, Zhang Z, Yao Q, Su C, Yin X, Wang X.Rev, an important accessory protein of equine infectious anaemia virus (EIAV), induces the nuclear export of incompletely spliced viral mRNAs. Rev is translated from the tat-rev mRNA through leaky scanning of the tat CUG. In this study, the function of the Kozak sequence at the beginning of the rev ORF was investigated. Deletion or attenuation of the Kozak sequence resulted in expression of an N-terminal 11  aa-truncated Rev in addition to WT Rev. Truncated Rev displayed weaker promotion of Gag expression and processing than WT Rev. Furthermore, EIAV rescued from an infectious molecular clon...
Gingival Toll-like receptor and cytokine messenger RNA levels in equine periodontitis and oral health.
Equine veterinary journal    July 12, 2016   Volume 49, Issue 3 294-299 doi: 10.1111/evj.12597
Kennedy R, Lappin DF, Dixon PM, Bennett D, Riggio MP.Equine periodontitis is a common and painful condition. However, the disease often goes unnoticed by owners and is thus a major welfare concern. The aetiopathogenesis of the condition remains poorly understood and has been investigated in few studies. The innate immune system is known to play an important role in human periodontitis, but its role in equine periodontitis has not been examined. Objective: To quantify the messenger (m)RNA levels of Toll-like receptors (TLRs) and cytokines in gingival tissue from orally healthy horses and those affected by periodontitis. Methods: Observational stu...
A new strategy for the decellularisation of large equine tendons as biocompatible tendon substitutes.
European cells & materials    July 8, 2016   Volume 32 58-73 doi: 10.22203/ecm.v032a04
Bottagisio M, Pellegata AF, Boschetti F, Ferroni M, Moretti M, Lovati AB.Tendon ruptures and/or large losses remain to be a great clinical challenge and often require full replacement of the damaged tissue. The use of auto- and allografts or engineered scaffolds is an established approach to restore severe tendon injuries. However, these grafts are commonly related to scarce biocompatibility, site morbidity, chronic inflammation and poor biomechanical properties. Recently, the decellularisation techniques of allo- or xenografts using specific detergents have been studied and have been found to generate biocompatible substitutes that resemble the native tissue. This...
Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies.
G3 (Bethesda, Md.)    July 7, 2016   Volume 6, Issue 7 2213-2223 doi: 10.1534/g3.116.029645
Rafati N, Andersson LS, Mikko S, Feng C, Raudsepp T, Pettersson J, Janecka J, Wattle O, Ameur A, Thyreen G, Eberth J, Huddleston J, Malig M, Bailey E....Skeletal atavism in Shetland ponies is a heritable disorder characterized by abnormal growth of the ulna and fibula that extend the carpal and tarsal joints, respectively. This causes abnormal skeletal structure and impaired movements, and affected foals are usually killed. In order to identify the causal mutation we subjected six confirmed Swedish cases and a DNA pool consisting of 21 control individuals to whole genome resequencing. We screened for polymorphisms where the cases and the control pool were fixed for opposite alleles and observed this signature for only 25 SNPs, most of which we...
Double-stranded-RNA-specific adenosine deaminase 1 (ADAR1) is proposed to contribute to the adaptation of equine infectious anemia virus from horses to donkeys.
Archives of virology    July 6, 2016   Volume 161, Issue 10 2667-2672 doi: 10.1007/s00705-016-2951-3
Tang YD, Zhang X, Na L, Wang XF, Fu LH, Zhu CH, Wang X, Zhou JH.Equine infectious anemia virus (EIAV) is a member of the genus Lentivirus of the family Retroviridae. Horses are the most susceptible equids to EIAV infection and are therefore the primary hosts of this virus. In contrast, infected donkeys do not develop clinically active equine infectious anemia (EIA). This phenomenon is similar to what has been observed with HIV-1, which fails to induce AIDS in non-human primates. Interestingly, Shen et al. developed a donkey-tropic pathogenic virus strain (EIAVDV117, DV117) by serially passaging a horse-tropic pathogenic strain, EIAVLN40 (LN40), in donkeys....
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