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Topic:Genes

Genes in horses are segments of DNA that encode the biological instructions necessary for the development, functioning, and reproduction of equine species. These genetic sequences influence a wide range of traits, including coat color, speed, endurance, and susceptibility to diseases. Genetic research in horses focuses on identifying specific genes and genetic markers associated with these traits, as well as understanding the inheritance patterns and genetic diversity within and between horse breeds. Studies in equine genetics contribute to breeding programs, disease prevention strategies, and the overall understanding of horse biology. This page compiles peer-reviewed research studies and scholarly articles that explore the identification, function, and implications of genes in equine health and performance.
Insulin-like growth factor binding protein (IGFBP6) is a cross-species tendon marker.
European cells & materials    September 24, 2019   Volume 38 123-136 doi: 10.22203/eCM.v038a10
Turlo AJ, Mueller-Breckenridge AJ, Zamboulis DE, Tew SR, Canty-Laird EG, Clegg PD.The main challenge in tendon injury management is suboptimal tissue healing that fails to re-establish original tendon function. Tissue bioengineering is a promising approach for tendon therapy, with potential to improve its functional outcomes. However, evaluation criteria for tissue-engineered tendon are unclear due to the lack of specific markers of differentiated tendon. The study aim was to identify a panel of genes that characterised tendons in comparison to cartilage or muscles and validate those genes, both in human and key species used as models for tendon diseases. Gene expression pr...
Signatures of selection in the genome of Swedish warmblood horses selected for sport performance.
BMC genomics    September 18, 2019   Volume 20, Issue 1 717 doi: 10.1186/s12864-019-6079-1
Ablondi M, Viklund Å, Lindgren G, Eriksson S, Mikko S.A growing demand for improved physical skills and mental attitude in modern sport horses has led to strong selection for performance in many warmblood studbooks. The aim of this study was to detect genomic regions with low diversity, and therefore potentially under selection, in Swedish Warmblood horses (SWB) by analysing high-density SNP data. To investigate if such signatures could be the result of selection for equestrian sport performance, we compared our SWB SNP data with those from Exmoor ponies, a horse breed not selected for sport performance traits. Results: The genomic scan for homoz...
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 ...
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...
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...
Production of Recombinant EAV with Tagged Structural Protein Gp3 to Study Artervirus Minor Protein Localization in Infected Cells.
Viruses    August 9, 2019   Volume 11, Issue 8 doi: 10.3390/v11080735
Matczuk AK, Chodaczek G, Ugorski M.Equine arteritis virus (EAV) is a prototype member of the Arterivirus family, comprising important pathogens of domestic animals. Minor glycoproteins of Arteriviruses are responsible for virus entry and cellular tropism. The experimental methods for studying minor Arterivirus proteins are limited because of the lack of antibodies and nested open reading frames (ORFs). In this study, we generated recombinant EAV with separated ORFs 3 and 4, and Gp3 carrying HA-tag (Gp3-HA). The recombinant viruses were stable on passaging and replicated in titers similar to the wild-type EAV. Gp3-HA was incorpo...
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...
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
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.].
A High Protein Model Alters the Endometrial Transcriptome of Mares.
Genes    July 30, 2019   Volume 10, Issue 8 doi: 10.3390/genes10080576
Boakari YL, Ali HE, Dini P, Loux S, Fernandes CB, Scoggin K, Esteller-Vico A, Lawrence L, Ball B.High blood urea nitrogen (BUN) decreases fertility of several mammals; however, the mechanisms have not been investigated in mares. We developed an experimental model to elevate BUN, with urea and control treatments (7 mares/treatment), in a crossover design. Urea-treatment consisted of a loading dose of urea (0.03 g/kg of body weight (BW)) and urea injections over 6 hours (0.03 g/kg of BW/h). Control mares received the same volume of saline solution. Blood samples were collected to measure BUN. Uterine and vaginal pH were evaluated after the last intravenous infusion, then endometrial biopsie...
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...
Sex identification in horses (Equus caballus) based on the gene pair NLGN4X/NLGN4Y.
Animal genetics    July 10, 2019   Volume 50, Issue 5 551 doi: 10.1111/age.12823
Zaffalon S, Latz A, Krasteva-Christ G, Maxeiner S.No abstract available
Treatment Options for Melanoma of Gray Horses.
The Veterinary clinics of North America. Equine practice    July 8, 2019   Volume 35, Issue 2 311-325 doi: 10.1016/j.cveq.2019.04.003
MacKay RJ.All gray horses inherited a single gene mutation, STX17G, that unbalances melanocyte behavior to cause graying and propensities to develop vitiligo and melanoma. The coat color genes ASIPa and MC1RE add risk such that relative likelihood of melanoma based on pregraying coat color is black > bay > chestnut. Melanomas begin at about 4 years. Locoregional control of melanoma masses depends on surgical removal and/or intralesional chemotherapy (possibly with adjunctive hyperthermia or electroporation). Systemic treatment is not evidence based but immunomodulators (cimetidine, levamisole) and ...
Characterization of the in vitro CYP450 mediated metabolism of the polymorphic CYP2D6 probe drug codeine in horses.
Biochemical pharmacology    July 8, 2019   Volume 168 184-192 doi: 10.1016/j.bcp.2019.07.005
Knych HK, Baden RW, Gretler SR, McKemie DS.Despite their widespread popularity as sport and companion animals and published and anecdotal reports of vast difference in drug disposition and pharmacokinetics between individuals, studies describing equine drug metabolism are limited. It has been theorized that similar to humans, members of the CYP2D family in horses may be polymorphic in nature leading to differences in metabolism of substrates. This study aims to build on the limited current knowledge regarding P450 mediated metabolism in horses by describing the metabolism of the polymorphic CYP2D6 probe drug codeine in vitro. Codeine, ...
Polyphasic Discrimination of Trichophyton tonsurans and T. equinum from Humans and Horses.
Mycopathologia    July 5, 2019   Volume 185, Issue 1 113-122 doi: 10.1007/s11046-019-00344-9
Kandemir H, Dukik K, Hagen F, Ilkit M, Gräser Y, de Hoog GS.The anthropophilic dermatophyte Trichophyton tonsurans and its zoophilic counterpart T. equinum are phylogenetically closely related. The barcoding marker rDNA internal transcribed spacer (ITS) shows limited variation between these two species. In the current study, we combined molecular approaches with phenotypic data to determine the species boundaries between T. tonsurans (n = 52) and T. equinum (n = 15) strains originating from humans (n = 40), horses (n = 26), and a mouse (n = 1). Culture characteristics and physiology on Trichophyton agar media 1 and 5 were evaluated....
Equine adipose mesenchymal stem cells (eq-ASCs) appear to have higher potential for migration and musculoskeletal differentiation.
Research in veterinary science    July 3, 2019   Volume 125 235-243 doi: 10.1016/j.rvsc.2019.06.015
Shojaee A, Parham A, Ejeian F, Nasr Esfahani MH.Equine adipose-derived mesenchymal stem cells (eq-ASCs) possess excellent regeneration potential especially for treatment of musculoskeletal disorders. Besides their common characteristics, MSCs harvested from different species reveal some species-specific and donor-dependent behaviors. Hence, the molecular analysis of MSCs may shed more light on their future clinical application of these cells. This study aimed to investigate some behavioral aspects of eq-ASCs in vitro which may influence the efficacy of stem cell therapy. For this purpose, MSCs of a donor horse were isolated, characterized a...
Genome-Wide Homozygosity Patterns and Evidence for Selection in a Set of European and Near Eastern Horse Breeds.
Genes    June 28, 2019   Volume 10, Issue 7 491 doi: 10.3390/genes10070491
Grilz-Seger G, Neuditschko M, Ricard A, Velie B, Lindgren G, Mesarič M, Cotman M, Horna M, Dobretsberger M, Brem G, Druml T.Intensive artificial and natural selection have shaped substantial variation among European horse breeds. Whereas most equine selection signature studies employ divergent genetic population structures in order to derive specific inter-breed targets of selection, we screened a total of 1476 horses originating from 12 breeds for the loss of genetic diversity by runs of homozygosity (ROH) utilizing a 670,000 single nucleotide polymorphism (SNP) genotyping array. Overlapping homozygous regions (ROH islands) indicating signatures of selection were identified by breed and similarities/dissimilaritie...
No polymorphisms in the coding region of the prion-like protein gene in Thoroughbred racehorses.
Acta veterinaria Hungarica    June 27, 2019   Volume 67, Issue 2 174-182 doi: 10.1556/004.2019.019
Jeong MJ, Jeong BH.Prion diseases are fatal neurodegenerative diseases characterised by the accumulation of an abnormal prion protein isoform (PrP), which is converted from the normal prion protein (PrP). Prion diseases have been reported in an extensive number of species but not in horses up to now; therefore, horses are known to be a species resistant to prion diseases. The prion-like protein gene () is closely located downstream of the prion protein gene () and the prion-like protein (Doppel) is a homologue with PrP. Previous studies have shown that an association between prion diseases and polymorphisms of t...
Transcriptome analysis reveals that fertilization with cryopreserved sperm downregulates genes relevant for early embryo development in the horse.
PloS one    June 25, 2019   Volume 14, Issue 6 e0213420 doi: 10.1371/journal.pone.0213420
Ortiz-Rodriguez JM, Ortega-Ferrusola C, Gil MC, Martín-Cano FE, Gaitskell-Phillips G, Rodríguez-Martínez H, Hinrichs K, Álvarez-Barrientos A....Artificial insemination with cryopreserved spermatozoa is a major assisted reproductive technology in many species. In horses, as in humans, insemination with cryopreserved sperm is associated with lower pregnancy rates than those for fresh sperm, however, direct effects of sperm cryopreservation on the development of resulting embryos are largely unexplored. The aim of this study was to investigate differences in gene expression between embryos resulting from fertilization with fresh or cryopreserved sperm. Embryos were obtained at 8, 10 or 12 days after ovulation from mares inseminated post-...
Analysis of ROH patterns in the Noriker horse breed reveals signatures of selection for coat color and body size.
Animal genetics    June 14, 2019   Volume 50, Issue 4 334-346 doi: 10.1111/age.12797
Grilz-Seger G, Druml T, Neuditschko M, Mesarič M, Cotman M, Brem G.Overlapping runs of homozygosity (ROH islands) shared by the majority of a population are hypothesized to be the result of selection around a target locus. In this study we investigated the impact of selection for coat color within the Noriker horse on autozygosity and ROH patterns. We analyzed overlapping homozygous regions (ROH islands) for gene content in fragments shared by more than 50% of horses. Long-term assortative mating of chestnut horses and the small effective population size of leopard spotted and tobiano horses resulted in higher mean genome-wide ROH coverage (S ) within the ran...
Comparison of the Chondrogenic Differentiation Potential of Equine Synovial Membrane-Derived and Bone Marrow-Derived Mesenchymal Stem Cells.
Frontiers in veterinary science    June 6, 2019   Volume 6 178 doi: 10.3389/fvets.2019.00178
Gale AL, Linardi RL, McClung G, Mammone RM, Ortved KF.Focal cartilage injury occurs commonly and often precipitates OA. Mesenchymal stem cells (MSCs) may be useful for repairing cartilage lesions, thereby preventing joint degeneration. Although MSCs isolated from bone marrow have been shown to have chondrogenic potential, synovial membrane-derived MSCs (SM-MSCs) may have superior chondrogenic abilities due to a common progenitor cell between synovium and cartilage. The objective of this study was to directly compare the immunophenotype, proliferative capabilities, and chondrogenic potential of equine SM-MSCs and bone marrow-derived MSCs (BM-MSCs)...
Methylation Marks of Blood Leukocytes of Native Hucul Mares Differentiated in Age.
International journal of genomics    June 2, 2019   Volume 2019 2839614 doi: 10.1155/2019/2839614
Ząbek T, Semik-Gurgul E, Szmatoła T, Gurgul A, Fornal A, Bugno-Poniewierska M.Horses are one of the longest-living species of farm animals. Advanced age is often associated with a decrease in body condition, dysfunction of immune system, and late-onset disorders. Due to this, the search for new solutions in the prevention and treatment of pathological conditions of the advanced age of horses is desirable. That is why the identification of aging-related changes in the horse genome is interesting in this respect. In the recent years, the research on aging includes studies of age-related epigenetic effects observed on the DNA methylation level. We applied reduced represent...
Genomic measures of inbreeding in the Norwegian-Swedish Coldblooded Trotter and their associations with known QTL for reproduction and health traits.
Genetics, selection, evolution : GSE    May 27, 2019   Volume 51, Issue 1 22 doi: 10.1186/s12711-019-0465-7
Velie BD, Solé M, Fegraeus KJ, Rosengren MK, Røed KH, Ihler CF, Strand E, Lindgren G.Since the 1950s, the Norwegian-Swedish Coldblooded trotter (NSCT) has been intensively selected for harness racing performance. As a result, the racing performance of the NSCT has improved remarkably; however, this improved racing performance has also been accompanied by a gradual increase in inbreeding level. Inbreeding in NSCT has historically been monitored by using traditional methods that are based on pedigree analysis, but with recent advancements in genomics, the NSCT industry has shown interest in adopting molecular approaches for the selection and maintenance of this breed. Consequent...
Isolation and characterization of equine influenza virus (H3N8) from an equine influenza outbreak in Malaysia in 2015.
Transboundary and emerging diseases    May 22, 2019   Volume 66, Issue 5 1884-1893 doi: 10.1111/tbed.13218
Toh X, Soh ML, Ng MK, Yap SC, Harith N, Fernandez CJ, Huangfu T.Equine influenza is a major cause of respiratory infections in horses and can spread rapidly despite the availability of commercial vaccines. In this study, we carried out molecular characterization of Equine Influenza Virus (EIV) isolated from the Malaysian outbreak in 2015 by sequencing of the HA and NA gene segments using Sanger sequencing. The nucleotide and amino acid sequences of HA and NA were compared with representative Florida clade 1 and clade 2 strains using phylogenetic analysis. The Florida clade 1 viruses identified in this outbreak revealed numerous amino acid substitutions in ...
The Haematococcus pluvialis extract enriched by bioaccumulation process with Mg(II) ions improves insulin resistance in equine adipose-derived stromal cells (EqASCs).
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie    May 17, 2019   Volume 116 108972 doi: 10.1016/j.biopha.2019.108972
Serwotka-Suszczak AM, Marcinkowska KA, Smieszek A, Michalak IM, Grzebyk M, Wiśniewski M, Marycz KM.Insulin resistance (IR) is one of the characteristic features of equine metabolic syndrome (EMS). Presently, the only therapies of choice are caloric restrictions combined with mineral supplementation, which might improve insulin sensitivity. In this study we investigated the effect of Haematococcus pluvialis algae water extract enriched in bioaccumulation process in magnesium ions (Hp_Mg(II)) on equine adipose derived mesenchymal stromal stem cells, in which insulin resistance was induced by palmitic acid (IR-EqASCs). For this purpose, chemical characterization of H. pluvialis was performed w...
In silico and in vitro analysis of genetic variants of the equine CYP3A94, CYP3A95 and CYP3A97 isoenzymes.
Toxicology in vitro : an international journal published in association with BIBRA    May 17, 2019   Volume 60 116-124 doi: 10.1016/j.tiv.2019.05.011
Vimercati S, Elli S, Jagannathan V, Pandey AV, Peduto N, Leeb T, Mevissen M.Cytochrome P450 enzymes (CYPs) of the equine CYP3A subfamily are predominantly involved in drug metabolism. In this study, genetic variants of the equine CYP3A94, CYP3A95, and CYP3A97 were identified and characterized using in silico modeling and in vitro enzyme kinetics. The genomes of 81 horses were sequenced to obtain the genetic variants. Structural CYP modifications of the most frequent variants were analyzed in silico using the 3D-structures predicted by homology modeling. Enzyme kinetic analyses were performed using testosterone as substrate. Twenty genetic variants were found including...
Urinary Bladder Matrix Does Not Improve Tenogenesis in an In Vitro Equine Model.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society    May 15, 2019   Volume 37, Issue 8 1848-1859 doi: 10.1002/jor.24320
Khatibzadeh SM, Menarim BC, Nichols AEC, Werre SR, Dahlgren LA.Extracellular matrix (ECM) is responsible for tendon strength and elasticity. Healed tendon ECM lacks structural integrity, leading to reinjury. Porcine urinary bladder matrix (UBM) provides a scaffold and source of bioactive proteins to improve tissue healing, but has received limited attention for treating tendon injuries. The objective of this study was to evaluate the ability of UBM to induce matrix organization and tenogenesis using a novel in vitro model. We hypothesized that addition of UBM to tendon ECM hydrogels would improve matrix organization and cell differentiation. Hydrogels se...
Chondrogenic expression and DNA methylation patterns in prolonged passages of chondrocyte cell lines of the horse.
Gene    May 8, 2019   Volume 707 58-64 doi: 10.1016/j.gene.2019.05.018
Ząbek T, Witarski W, Semik-Gurgul E, Szmatoła T, Kowalska K, Bugno-Poniewierska M.We investigated the activity of chondrogenic markers and variation of methylation patterns in equine cartilaginous cells cultivated in monolayer. The transcriptional and epigenetic effect of the long-term culture of chondrocytes has been evaluated using several passages of chondrocyte cell-lines derived from equine articular cartilage. Using 3 genes as endogenous control we tested the expression of 7 genes important for different stages of chondrocyte differentiation and maturation. CpG islands in RUNX3 locus were inspected for the evaluation of differential methylation state of passaged cell-...
Urinary bladder matrix does not improve tenogenesis in an in vitro equine model. Khatibzadeh SM, Menarim BC, Nichols AE, Werre SR, Dahlgren LA.Extracellular matrix (ECM) is responsible for tendon strength and elasticity. Healed tendon ECM lacks structural integrity, leading to reinjury. Porcine urinary bladder matrix (UBM) provides a scaffold and source of bioactive proteins to improve tissue healing, but has received limited attention for treating tendon injuries. The objective of this study was to evaluate the ability of UBM to induce matrix organization and tenogenesis using a novel in vitro model. We hypothesized that addition of UBM to tendon ECM hydrogels would improve matrix organization and cell differentiation. Hydrogels see...
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