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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.
A novel PCR protocol for detection and differentiation of neuropathogenic and non-neuropathogenic equid alphaherpesvirus 1. Lechmann J, Schoster A, Ernstberger M, Fouché N, Fraefel C, Bachofen C.Equid alphaherpesvirus 1 (EHV-1) infections can have a major impact on the horse industry and equine welfare by causing abortion or respiratory or neurologic disease. A single nucleotide polymorphism (A→G) in open reading frame (ORF) 30, encoding the catalytic subunit of the DNA polymerase, has been shown to be a strong predictive marker for neuropathogenicity. Given that a previously established real-time PCR (rtPCR) protocol yielded unsatisfactory results concerning determination of the EHV-1 genotype, we developed and evaluated a new conventional PCR protocol enabling identification of th...
Expression of immune regulatory genes correlate with the abundance of specific Clostridiales and Verrucomicrobia species in the equine ileum and cecum.
Scientific reports    September 3, 2019   Volume 9, Issue 1 12674 doi: 10.1038/s41598-019-49081-5
Lindenberg F, Krych L, Fielden J, Kot W, Frøkiær H, van Galen G, Nielsen DS, Hansen AK.Billions of bacteria inhabit the gastrointestinal tract. Immune-microbial cross talk is responsible for immunological homeostasis, and symbiotic microbial species induce regulatory immunity, which helps to control the inflammation levels. In this study we aimed to identify species within the equine intestinal microbiota with the potential to induce regulatory immunity. These could be future targets for preventing or treating low-grade chronic inflammation occurring as a result of intestinal microbial changes and disruption of the homeostasis. 16S rRNA gene amplicon sequencing was performed on ...
The Genetics of Racing Performance in Arabian Horses.
International journal of genomics    September 2, 2019   Volume 2019 9013239 doi: 10.1155/2019/9013239
Ropka-Molik K, Stefaniuk-Szmukier M, Musiał AD, Velie BD.Arabian horses are commonly believed to be one of the oldest and most influential horse breeds in the world. The high financial benefits obtained from races tend to search for genetic markers strongly correlated with the results achieved. To date, the modern approaches such as transcriptome, miRNAome, and metabolome analyses have been used to investigate the genetic background of racing performance as well as endurance capacity in Arabians. The analysis of polymorphisms at the genome level has also been applied to the detection of genetic variants associated with exercise phenotype in the Arab...
Maternal and paternal genetic variation in Estonian local horse breeds in the context of geographically adjacent and distant Eurasian breeds.
Animal genetics    September 2, 2019   Volume 50, Issue 6 757-760 doi: 10.1111/age.12835
Sild E, Värv S, Kaart T, Kantanen J, Popov R, Viinalass H.The maternal and paternal genetic variation of horse breeds from the Baltic Sea region, including three local Estonian breeds, was assessed and compared with that of Altai and Yakutian horses. In the mtDNA D-loop region, 72 haplotypes assigned to 20 haplogroups in the nine breeds were detected. In Estonian local breeds, 38 mtDNA haplotypes were found, and five of them were shared by the three breeds. More than 60% of all identified haplotypes were rare. Compared with the Estonian Native and Estonian Heavy Draught breeds, a higher haplotypic diversity was found in the Tori breed (h = 0.969). ...
Age-associated telomere shortening in Thoroughbred horses.
Experimental gerontology    August 31, 2019   Volume 127 110718 doi: 10.1016/j.exger.2019.110718
Denham J, Stevenson K, Denham MM.Telomeres are genetically conserved repetitive terminal DNA that protect against genomic instability and shorten with ageing. Here, we reveal the leukocyte telomere length of Equus caballus by measuring terminal restriction fragments (TRFs) using Southern Blot analysis in a cohort of 43 Thoroughbred horses (age: 24 h-25 years). Heterogeneous TRFs were observed in each animal and large inter-animal variation in mean TRF was observed (range: 10.5-18.7 kbp). Mean TRFs were inversely correlated with age (r = -0.47). The estimated yearly rate of telomere attrition was 134 bp. Horses shoul...
A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype.
Animal genetics    August 28, 2019   Volume 50, Issue 6 761-763 doi: 10.1111/age.12840
Hug P, Jude R, Henkel J, Jagannathan V, Leeb T.White spotting phenotypes in horses may be caused by developmental alterations impairing melanoblast differentiation, survival, migration and/or proliferation. Candidate genes for white-spotting phenotypes in horses include EDNRB, KIT, MITF, PAX3 and TRPM1. We investigated a German Riding Pony with a sabino-like phenotype involving extensive white spots on the body together with large white markings on the head and almost completely white legs. We obtained whole genome sequence data from this horse. The analysis revealed a heterozygous 1273-bp deletion spanning parts of intron 2 and exon 3 of ...
Origin and Evolution of Deleterious Mutations in Horses.
Genes    August 28, 2019   Volume 10, Issue 9 649 doi: 10.3390/genes10090649
Orlando L, Librado P.Domestication has changed the natural evolutionary trajectory of horses by favoring the reproduction of a limited number of animals showing traits of interest. Reduced breeding stocks hampered the elimination of deleterious variants by means of negative selection, ultimately inflating mutational loads. However, ancient genomics revealed that mutational loads remained steady during most of the domestication history until a sudden burst took place some 250 years ago. To identify the factors underlying this trajectory, we gather an extensive dataset consisting of 175 modern and 153 ancient genome...
Analysis of caecal mucosal inflammation and immune modulation during Anoplocephala perfoliata infection of horses.
Parasite immunology    August 24, 2019   Volume 41, Issue 11 e12667 doi: 10.1111/pim.12667
Lawson AL, Pittaway CE, Sparrow RM, Balkwill EC, Coles GC, Tilley A, Wilson AD.Anoplocephala perfoliata is the commonest equine tapeworm, the adult parasites are attached in groups close to the ileocaecal valve causing marked inflammatory pathology. This work aimed to characterize the nature of the in vivo mucosal immune response to A perfoliata, and to investigate the role of A perfoliata excretory-secretory components in modulating in vitro immune responses. Real-time PCR detected elevation of IL13 and TGFβ transcription in early-stage A perfoliata infection. In late-stage infection, IL-13, IL4 and Ifn transcripts were reduced while the regulatory cytokines, TGFβ...
Extended-Spectrum β-Lactamase-Producing Enterobacteriaceae in Hospitalized Neonatal Foals: Prevalence, Risk Factors for Shedding and Association with Infection.
Animals : an open access journal from MDPI    August 23, 2019   Volume 9, Issue 9 doi: 10.3390/ani9090600
Shnaiderman-Torban A, Paitan Y, Arielly H, Kondratyeva K, Tirosh-Levy S, Abells-Sutton G, Navon-Venezia S, Steinman A.Extended-spectrum β-lactamase Enterobacteriaceae (ESBL-E) have been investigated in adult horses, but not in foals. We aimed to determine shedding and infection in neonatal foals and mares. Rectal swabs were sampled from mare and foal pairs on admission and on the 3rd day of hospitalization; enriched, plated, and bacteria were verified for ESBL production. Identification and antibiotic susceptibility profiles were determined (Vitek2). Genotyping was performed by multilocus sequence typing (MLST). Genes were identified by PCR and Sanger sequencing. Medical data were analyzed for risk factors (...
Exploration of fine-scale recombination rate variation in the domestic horse.
Genome research    August 21, 2019   Volume 29, Issue 10 1744-1752 doi: 10.1101/gr.243311.118
Beeson SK, Mickelson JR, McCue ME.Total genetic map length and local recombination landscapes typically vary within and across populations. As a first step to understanding the recombination landscape in the domestic horse, we calculated population recombination rates and identified likely recombination hotspots using approximately 1.8 million SNP genotypes for 485 horses from 32 distinct breeds. The resulting breed-averaged recombination map spans 2.36 Gb and accounts for 2939.07 cM. Recombination hotspots occur once per 23.8 Mb on average and account for ∼9% of the physical map length. Regions with elevated recombination r...
[Birth of a foal following insemination with frozen-thawed epididymal sperm and simultaneous intrauterine delivery of homologous seminal plasma].
Tierarztliche Praxis. Ausgabe G, Grosstiere/Nutztiere    August 21, 2019   Volume 47, Issue 4 256-262 doi: 10.1055/a-0884-8553
Neuhauser S, Gösele P, Handler J.Cryopreservation of epididymal sperm allows final preservation of the gene reserve from valuable sires in case of unexpected injury terminating the breeding career. This case report describes the birth of a healthy foal following insemination with frozen-thawed epididymal sperm. The testes and epididymides were removed under general anaesthesia and sent cooled to the laboratory overnight. The cauda epididymidis was dissected and 17.79 × 109 sperm were harvested by a retrograde flush technique. A fertile mare was inseminated 1 year later with frozen-thawed epididymal sperm. Sperm were deposite...
The Blood and Muscle Expression Pattern of the Equine TCAP Gene during the Race Track Training of Arabian Horses.
Animals : an open access journal from MDPI    August 18, 2019   Volume 9, Issue 8 574 doi: 10.3390/ani9080574
Stefaniuk-Szmukier M, Szmatoła T, Łątka J, Długosz B, Ropka-Molik K.Horse musculature has been shaped through evolution by environmental and human factors, which has resulted in several extraordinary adaptations to physical effort. Skeletal muscle plasticity results from the response to mechanical stimulation causing hypertrophy, where sarcomeres increase the muscle's cross-sectional area under the influence of contractile forces. The aim of the present study was the evaluation of transcript abundance of the telethonin () gene, which is a part of the sarcomere macromolecular mechanosensory complex in the gluteus medius muscle, and the whole blood of Arabian ho...
Fibrinogen in equine pregnancy as a mediator of cell adhesion, an epigenetic and functional investigation.
Biology of reproduction    August 14, 2019   Volume 102, Issue 1 170-184 doi: 10.1093/biolre/ioz157
Grant DM, Macedo A, Toms D, Klein C.Preimplantation equine embryos synthesize and secrete fibrinogen, which is a peculiar finding as fibrinogen synthesis almost exclusively occurs in the liver. This study investigated the hypothesis that conceptus-derived fibrinogen mediates cell adhesion during fixation. On day 21 of pregnancy, five integrin subunits, including ITGA5, ITGB1, ITGAV, and ITGB1, displayed significantly higher transcript abundance than on day 16 of pregnancy. Endometrial epithelial cells adhered to fibrinogen in an integrin-dependent manner in an in vitro cell adhesion assay. Bilaminar trophoblast and allantochorio...
Key Determinants in the Pathogenesis of Equine Herpesvirus 1 and 4 Infections.
Veterinary pathology    August 10, 2019   Volume 56, Issue 5 656-659 doi: 10.1177/0300985819849498
Hussey GS.No abstract available
Horse phenotyping based on video image analysis of jumping performance for conservation breeding.
PeerJ    August 9, 2019   Volume 7 e7450 doi: 10.7717/peerj.7450
Lewczuk D, Metera-Zarzycka E.Many horse breeds in the world are reserved as genetic resources; however, their characteristics seem to be insufficiently clarified, especially in terms of horse performance. Two jumping ability evaluation methods have been used to compare different types of performance breeds and on this basis their applicability for precision phenotyping has been determined. Methods: Jumping data of 186 young Polish Warmblood stallions (27 with an endangered status) bred for sport and multipurpose use was collected during their performance tests organised under identical environmental conditions following t...
Genomic Regions Associated with IgE Levels against Culicoides spp. Antigens in Three Horse Breeds.
Genes    August 8, 2019   Volume 10, Issue 8 doi: 10.3390/genes10080597
François L, Hoskens H, Velie BD, Stinckens A, Tinel S, Lamberigts C, Peeters L, Savelkoul HFJ, Tijhaar E, Lindgren G, Janssens S, Ducro BJ, Buys N....Insect bite hypersensitivity (IBH), which is a cutaneous allergic reaction to antigens from Culicoides spp., is the most prevalent skin disorder in horses. Misdiagnosis is possible, as IBH is usually diagnosed based on clinical signs. Our study is the first to employ IgE levels against several recombinant Culicoides spp. allergens as an objective, independent, and quantitative phenotype to improve the power to detect genetic variants that underlie IBH. Genotypes of 200 Shetland ponies, 127 Icelandic horses, and 223 Belgian Warmblood horses were analyzed while using a mixed model approach. No s...
ACTN3 genotype distribution across horses representing different utility types and breeds.
Molecular biology reports    August 7, 2019   Volume 46, Issue 6 5795-5803 doi: 10.1007/s11033-019-05013-0
Musiał AD, Ropka-Molik K, Piórkowska K, Jaworska J, Stefaniuk-Szmukier M.In horses, the identification of the genetic background of phenotypic variation, especially with regard to performance characteristics and predisposition to effort, has been extensively studied. As α-actinin-3 function is related to the regulation of muscle contraction and cell metabolism, the ACTN3 gene is considered one of the main genetic factors determining muscle strength. The aim of the present study was to assess the genotype distribution of two SNP variants within the equine ACTN3 gene (g.1104G > A and c.2334C > T) across different utility types and horse breeds. The ana...
Community Composition and Diversity of Intestinal Microbiota in Captive and Reintroduced Przewalski’s Horse (Equus ferus przewalskii).
Frontiers in microbiology    August 7, 2019   Volume 10 1821 doi: 10.3389/fmicb.2019.01821
Li Y, Zhang K, Liu Y, Li K, Hu D, Wronski T.Large and complex intestinal microbiota communities in hosts have profound effects on digestion and metabolism. To better understand the community structure of intestinal microbiota in Przewalski's horse () under different feeding regimes, we compared bacterial diversity and composition between captive and reintroduced Przewalski's horses, using high-throughput 16S-rRNA gene sequencing for identification. Reintroduced Przewalski's horses were sampled in two Chinese nature reserves, i.e., Dunhuang Xihu Nature Reserve (DXNR; = 8) in Gansu Province and Kalamaili Nature Reserve (KNR; = 12) in Xi...
MicroRNA-221 is overexpressed in the equine asthmatic airway smooth muscle and modulates smooth muscle cell proliferation.
American journal of physiology. Lung cellular and molecular physiology    August 7, 2019   Volume 317, Issue 6 L748-L757 doi: 10.1152/ajplung.00221.2018
Issouf M, Vargas A, Boivin R, Lavoie JP.Airway wall remodeling, including hyperplasia and hypertrophy of smooth muscle (ASM) cells leading to an increased smooth muscle mass, is considered central to asthma. However, molecular pathways responsible for ASM remodeling remain poorly understood. MicroRNAs (miRNAs) have emerged as key regulators of inflammatory and repair processes affecting the lungs and can downregulate protein expression by inhibiting target mRNA translation. We therefore hypothesized that miRNAs are involved in ASM remodeling in asthma by modulating ASM proliferation. We have analyzed the expression of miRNAs in bron...
Preliminary heritability of complete rotation large colon volvulus in Thoroughbred broodmares.
The Veterinary record    August 7, 2019   Volume 185, Issue 9 269 doi: 10.1136/vr.105323
Petersen JL, Lewis RM, Embertson R, Valberg SJ, Holcombe SJ.Large colon volvulus (LCV) is a life-threatening form of colic that occurs when the large colon rotates 360° or more on its axis, resulting in colonic distention and ischaemia. Any horse can suffer from LCV, but the risk is greatest for periparturient Thoroughbred broodmares; the objective of this study was to estimate the heritability of LCV in these horses. The criteria for classification as an LCV case were being a Thoroughbred broodmare from one of three farms in central Kentucky and having had surgical correction for LCV. Controls were identified as Thoroughbred broodmares present on the...
Identification of a Novel Equine Papillomavirus in Semen from a Thoroughbred Stallion with a Penile Lesion.
Viruses    August 4, 2019   Volume 11, Issue 8 713 doi: 10.3390/v11080713
Li CX, Chang WS, Mitsakos K, Rodger J, Holmes EC, Hudson BJ.Papillomaviruses (PVs) have been identified in a wide range of animal species and are associated with a variety of disease syndromes including classical papillomatosis, aural plaques, and genital papillomas. In horses, 13 PVs have been described to date, falling into six genera. Using total RNA sequencing (meta-transcriptomics) we identified a novel equine papillomavirus in semen taken from a thoroughbred stallion suffering a genital lesion, which was confirmed by nested RT-PCR. We designate this novel virus (EcPV9). The complete 7656 bp genome of EcPV9 exhibited similar characteristics to th...
Genetics of equine metabolic syndrome.
The Veterinary record    August 3, 2019   Volume 185, Issue 5 148 doi: 10.1136/vr.l4725
Rodríguez-Sanz CE, Sevane N, Dunner S.No abstract available
pH-dependent effects of procaine on equine gamete activation†.
Biology of reproduction    August 3, 2019   Volume 101, Issue 5 1056-1074 doi: 10.1093/biolre/ioz131
Leemans B, Stout TAE, Soom AV, Gadella BM.Procaine directly triggers pH-dependent cytokinesis in equine oocytes and induces hypermotility in stallion spermatozoa, an important event during capacitation. However, procaine-induced hyperactivated motility is abolished when sperm is washed to remove the procaine prior to sperm-oocyte co-incubation. To understand how procaine exerts its effects, the external Ca2+ and Na+ and weak base activity dependency of procaine-induced hyperactivation in stallion spermatozoa was assessed using computer-assisted sperm analysis. Percoll-washed stallion spermatozoa exposed to Ca2+-depleted (+2 mM EGTA) p...
Comparison for immunophysiological responses of Jeju and Thoroughbred horses after exercise.
Asian-Australasian journal of animal sciences    August 3, 2019   Volume 33, Issue 3 424-435 doi: 10.5713/ajas.19.0260
Khummuang S, Lee HG, Joo SS, Park JW, Choi JY, Oh JH, Kim KH, Youn HH, Kim M, Cho BW.The study was conducted to investigate variations in the immunophysiological responses to exercise-induced stress in Jeju and Thoroughbred horses. Methods: Blood samples were collected from the jugular veins of adult Jeju (n = 5) and Thoroughbred (n = 5) horses before and after 30 min of exercise. The hematological, biochemical, and immunological profiles of the blood samples were analyzed. Blood smears were stained and observed under a microscope. The concentration of cell-free (cf) DNA in the plasma was determined using real time polymerase chain reaction (PCR). Peripheral blood mononuclear ...
Correction: Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses.
PLoS genetics    August 2, 2019   Volume 15, Issue 8 e1008321 doi: 10.1371/journal.pgen.1008321
Hauswirth R, Haase B, Blatter M, Brooks SA, Burger D, Drögemüller C, Gerber V, Henke D, Janda J, Jude R, Magdesian KG, Matthews JM, Poncet PA....[This corrects the article DOI: 10.1371/journal.pgen.1002653.].
Equine arteritis virus long-term persistence is orchestrated by CD8+ T lymphocyte transcription factors, inhibitory receptors, and the CXCL16/CXCR6 axis.
PLoS pathogens    July 29, 2019   Volume 15, Issue 7 e1007950 doi: 10.1371/journal.ppat.1007950
Carossino M, Dini P, Kalbfleisch TS, Loynachan AT, Canisso IF, Cook RF, Timoney PJ, Balasuriya UBR.Equine arteritis virus (EAV) has the unique ability to establish long-term persistent infection in the reproductive tract of stallions and be sexually transmitted. Previous studies showed that long-term persistent infection is associated with a specific allele of the CXCL16 gene (CXCL16S) and that persistence is maintained despite the presence of local inflammatory and humoral and mucosal antibody responses. Here, we performed transcriptomic analysis of the ampullae, the primary site of EAV persistence in long-term EAV carrier stallions, to understand the molecular signatures of viral persiste...
Genome-wide SNP analysis of Japanese Thoroughbred racehorses.
PloS one    July 24, 2019   Volume 14, Issue 7 e0218407 doi: 10.1371/journal.pone.0218407
Fawcett JA, Sato F, Sakamoto T, Iwasaki WM, Tozaki T, Innan H.The domestication process of plants and animals typically involves intense inbreeding and directional selection for various traits. Here, we genotyped 370 Japanese Thoroughbred horses using the recently developed 670k SNP array and performed various genome-wide analysis also using genotype data of other horse breeds. We identified a number of regions showing interesting patterns of polymorphisms. For instance, the region containing the MC1R locus associated with chestnut coat color may have been targeted by selection for a different mutation much earlier on than the recent selection for chestn...
Optimization of RNA extraction protocol for long-term archived formalin-fixed paraffin-embedded tissues of horses.
Experimental and molecular pathology    July 23, 2019   Volume 110 104289 doi: 10.1016/j.yexmp.2019.104289
Boos GS, Nobach D, Failing K, Eickmann M, Herden C.A suitable RNA extraction protocol was established to gain high quality RNA from formalin-fixed paraffin-embedded tissues to perform reliable molecular assays either applicable for using FFPE tissue archives or tissues with harsh formalin-fixation. Eighteen FFPE samples from the central nervous system of horses, stored up to 11 years, were used as archive cases. To test the influence of the fixation period, brain, liver, kidney, and skeletal muscle tissue fragments from another horse, were treated either with water or tris-acetate-EDTA buffer after fixation under different timepoints with 10...
Autoimmune diseases affecting skin melanocytes in dogs, cats and horses: vitiligo and the uveodermatological syndrome: a comprehensive review.
BMC veterinary research    July 19, 2019   Volume 15, Issue 1 251 doi: 10.1186/s12917-019-2003-9
Tham HL, Linder KE, Olivry T.Autoimmune dermatoses targeting melanocytes have gained attention in human medicine due to their progressive nature and the social impact suffered by affected individuals. In veterinary medicine, vitiligo and the uveodermatological syndrome are the two autoimmune diseases that are known to affect skin melanocytes.In the first part of this article, we will review the signalment, clinical signs, histopathology and the treatment outcome of vitiligo in dogs, cats and horses; where pertinent, we compare the animal diseases to their human homologue. In a similar fashion, the information on the uveod...
Commonality of Multidrug-Resistant Klebsiella pneumoniae ST348 Isolates in Horses and Humans in Portugal.
Frontiers in microbiology    July 18, 2019   Volume 10 1657 doi: 10.3389/fmicb.2019.01657
Trigo da Roza F, Couto N, Carneiro C, Cunha E, Rosa T, Magalhães M, Tavares L, Novais Â, Peixe L, Rossen JW, Lamas LP, Oliveira M.Multidrug-resistant (MDR) is considered a major global concern by the World Health Organization. Evidence is growing on the importance of circulation of MDR bacterial populations between animals and humans. Horses have been shown to carry commensal isolates of this bacterial species and can act as human MDR bacteria reservoirs. In this study, we characterized an extended-spectrum β-lactamase (ESBL)-producing sequence type (ST) 348 isolate from a horse, an ST reported for the first time in an animal, using next-generation sequencing. We compared it with six other MDR ST348 human isolates pr...
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