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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.
Mitochondrial DNA genetic variations among four horse populations in Egypt.
Journal, genetic engineering & biotechnology    July 6, 2017   Volume 15, Issue 2 469-474 doi: 10.1016/j.jgeb.2017.06.004
Othman OE, Mahrous KF, Shafey HI.Horses are one of the early domesticated animals in the world that changed societies and civilizations on a continent-wide scale. Due to the rare information about the genetic characterization of different horse populations in Egypt, this study aimed to identify the genetic biodiversity and relationships between four horse populations reared in Egypt. Genomic DNA was extracted and mtDNA region was amplified using polymerase chain reaction (PCR). The alignment of 384-bp amplified fragments showed the presence of 41 polymorphic sites resulting in 29 haplotypes which their sequences were submitte...
Evaluating the potential roles of the Gray and Extension loci in the coat coloration of Thoroughbred racing horses.
Journal of equine science    July 6, 2017   Volume 28, Issue 2 61-65 doi: 10.1294/jes.28.61
Sakamoto T, Fawcett JA, Innan H.Horses have substantial variation in coat color, and the genetic loci responsible for the coat color variations have been well investigated. It has been believed that some color variations should follow a single-locus Mendelian law. Examples include the Gray locus that causes the gray phenotype and the Extension locus that specifies the chestnut phenotype. We reevaluated the roles of the Gray and Extension loci by using a large number of mating records of Thoroughbred racing horses. We showed that the data indeed fits the Mendelian law extremely well for the two loci. Furthermore, we demonstra...
Altering equine corneal fibroblast differentiation through Smad gene transfer.
Veterinary ophthalmology    July 6, 2017   Volume 21, Issue 2 132-139 doi: 10.1111/vop.12485
Marlo TL, Giuliano EA, Tripathi R, Sharma A, Mohan RR.To explore the impact of equine corneal fibroblast (ECF) to myofibroblast (ECM) differentiation by altering the expression of the Smad genes either individually or in combination. Specifically, we sought to examine the ECF differentiation after (a) silencing of Smad2, 3, and 4 profibrotic genes individually and (b) overexpression of antifibrotic Smad7 gene and in a combination with pro- and antifibrotic Smad genes. Methods: Equine corneal fibroblast primary cultures were generated as previously described. ECFs were transfected with individual plasmids which silenced gene expression of either S...
Sarcocystis neurona and Neospora caninum in Brazilian opossums (Didelphis spp.): Molecular investigation and in vitro isolation of Sarcocystis spp.
Veterinary parasitology    July 5, 2017   Volume 243 192-198 doi: 10.1016/j.vetpar.2017.07.002
Gondim LSQ, Jesus RF, Ribeiro-Andrade M, Silva JCR, Siqueira DB, Marvulo MFV, Aléssio FM, Mauffrey JF, Julião FS, Savani ESMM, Soares RM, Gondim LFP.Sarcocystis neurona and Neospora spp. are protozoan parasites that induce neurological diseases in horses and other animal species. Opossums (Didelphis albiventris and Didelphis virginiana) are definitive hosts of S. neurona, which is the major cause of equine protozoal myeloencephalitis (EPM). Neospora caninum causes abortion in cattle and infects a wide range of animal species, while N. hughesi is known to induce neurologic disease in equids. The aims of this study were to investigate S. neurona and N. caninum in tissues from opossums in the northeastern Brazil, and to isolate Brazilian stra...
Identification and genetic characterization of equine hepaciviruses in Italy.
Veterinary microbiology    July 5, 2017   Volume 207 239-247 doi: 10.1016/j.vetmic.2017.07.004
Elia G, Lanave G, Lorusso E, Parisi A, Cavaliere N, Patruno G, Terregino C, Decaro N, Martella V, Buonavoglia C.Viruses similar to human hepatitis C virus, hepaciviruses, have been identified in various animal species. Equine hepacivirus (EqHV) is the closest relative of human hepaciviruses. Although detected worldwide, information on EqHV epidemiology, genetic diversity and pathogenicity is still limited. In this study we investigated the prevalence and genetic diversity of EqHV in Italian equids. The RNA of EqHV was detected in 91/1932 sera (4.7%) whilst it was not detectable in 134 donkey sera screened by a TaqMan-based quantitative assay. Upon sequencing and phylogenetic analysis of genomic portions...
Identification of long non-coding RNA in the horse transcriptome.
BMC genomics    July 4, 2017   Volume 18, Issue 1 511 doi: 10.1186/s12864-017-3884-2
Scott EY, Mansour T, Bellone RR, Brown CT, Mienaltowski MJ, Penedo MC, Ross PJ, Valberg SJ, Murray JD, Finno CJ.Efforts to resolve the transcribed sequences in the equine genome have focused on protein-coding RNA. The transcription of the intergenic regions, although detected via total RNA sequencing (RNA-seq), has yet to be characterized in the horse. The most recent equine transcriptome based on RNA-seq from several tissues was a prime opportunity to obtain a concurrent long non-coding RNA (lncRNA) database. This lncRNA database has a breadth of eight tissues and a depth of over 20 million reads for select tissues, providing the deepest and most expansive equine lncRNA database. Utilizing the intergen...
Antimicrobial peptides secreted by equine mesenchymal stromal cells inhibit the growth of bacteria commonly found in skin wounds.
Stem cell research & therapy    July 4, 2017   Volume 8, Issue 1 157 doi: 10.1186/s13287-017-0610-6
Harman RM, Yang S, He MK, Van de Walle GR.The prevalence of chronic skin wounds in humans is high, and treatment is often complicated by the presence of pathogenic bacteria. Therefore, safe and innovative treatments to reduce the bacterial load in cutaneous wounds are needed. Mesenchymal stromal cells (MSC) are known to provide paracrine signals that act on resident skin cells to promote wound healing, but their potential antibacterial activities are not well described. The present study was designed to examine the antibacterial properties of MSC from horses, as this animal model offers a readily translatable model for MSC therapies i...
Erratum to: The refractive state of the eye in Icelandic horses with the Silver mutation.
BMC veterinary research    June 29, 2017   Volume 13, Issue 1 207 doi: 10.1186/s12917-017-1111-7
Johansson MK, Fegraeus KJ, Lindgren G, Ekesten B.No abstract available
Y Chromosome Uncovers the Recent Oriental Origin of Modern Stallions.
Current biology : CB    June 29, 2017   Volume 27, Issue 13 2029-2035.e5 doi: 10.1016/j.cub.2017.05.086
Wallner B, Palmieri N, Vogl C, Rigler D, Bozlak E, Druml T, Jagannathan V, Leeb T, Fries R, Tetens J, Thaller G, Metzger J, Distl O, Lindgren G....The Y chromosome directly reflects male genealogies, but the extremely low Y chromosome sequence diversity in horses has prevented the reconstruction of stallion genealogies [1, 2]. Here, we resolve the first Y chromosome genealogy of modern horses by screening 1.46 Mb of the male-specific region of the Y chromosome (MSY) in 52 horses from 21 breeds. Based on highly accurate pedigree data, we estimated the de novo mutation rate of the horse MSY and showed that various modern horse Y chromosome lineages split much later than the domestication of the species. Apart from few private northern Euro...
Endurance Exercise Ability in the Horse: A Trait with Complex Polygenic Determinism.
Frontiers in genetics    June 28, 2017   Volume 8 89 doi: 10.3389/fgene.2017.00089
Ricard A, Robert C, Blouin C, Baste F, Torquet G, Morgenthaler C, Rivière J, Mach N, Mata X, Schibler L, Barrey E.Endurance horses are able to run at more than 20 km/h for 160 km (in bouts of 30-40 km). This level of performance is based on intense aerobic metabolism, effective body heat dissipation and the ability to endure painful exercise. The known heritabilities of endurance performance and exercise-related physiological traits in Arabian horses suggest that adaptation to extreme endurance exercise is influenced by genetic factors. The objective of the present genome-wide association study (GWAS) was to identify single nucleotide polymorphisms (SNPs) related to endurance racing performance in 597 Ara...
Antigenicity of mesenchymal stem cells in an inflamed joint environment.
American journal of veterinary research    June 27, 2017   Volume 78, Issue 7 867-875 doi: 10.2460/ajvr.78.7.867
Hill JA, Cassano JM, Goodale MB, Fortier LA.OBJECTIVE To determine whether major histocompatability complex (MHC) class II expression in equine mesenchymal stem cells (MSCs) changes with exposure to a proinflammatory environment reflective of an inflamed joint. SAMPLE Cryopreserved bone marrow-derived MSCs from 12 horses and cartilage and synovium samples from 1 horse euthanized for reasons other than lameness. PROCEDURES In part 1 of a 3-part study, the suitability of a quantitative reverse transcriptase PCR (qRT-PCR) assay for measurement of MHC class II expression in MSCs following stimulation with interferon (IFN)-γ was assessed. I...
Expression of various sarcomeric tropomyosin isoforms in equine striated muscles.
Open veterinary journal    June 26, 2017   Volume 7, Issue 2 180-191 doi: 10.4314/ovj.v7i2.17
Dube S, Chionuma H, Matoq A, Alshiekh-Nasany R, Abbott L, Poiesz BJ, Dube DK.In order to better understand the training and athletic activity of horses, we must have complete understanding of the isoform diversity of various myofibrillar protein genes like tropomyosin. Tropomyosin (TPM), a coiled-coil dimeric protein, is a component of thin filament in striated muscles. In mammals, four TPM genes (TPM1, TPM2, TPM3, and TPM4) generate a multitude of TPM isoforms via alternate splicing and/or using different promoters. Unfortunately, our knowledge of TPM isoform diversity in the horse is very limited. Hence, we undertook a comprehensive exploratory study of various TPM i...
Clinical and histopathological features of myofibrillar myopathy in Warmblood horses.
Equine veterinary journal    June 26, 2017   Volume 49, Issue 6 739-745 doi: 10.1111/evj.12702
Valberg SJ, Nicholson AM, Lewis SS, Reardon RA, Finno CJ.To report a novel exertional myopathy, myofibrillar myopathy (MFM) in Warmblood (WB) horses. Objective: To 1) describe the distinctive clinical and myopathic features of MFM in Warmblood horses and 2) investigate the potential inheritance of MFM in a Warmblood family. Methods: Retrospective selection of MFM cases and prospective evaluation of a Warmblood family. Methods: Retrospectively, muscle biopsies were selected from Warmblood horses diagnosed with MFM and clinical histories obtained (n = 10). Prospectively, muscle biopsies were obtained from controls (n = 8) and a three generation WB...
Modulating the oxidative environment during mesenchymal stem cells chondrogenesis with serum increases collagen accumulation in agarose culture.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society    June 26, 2017   Volume 36, Issue 1 506-514 doi: 10.1002/jor.23618
Tangtrongsup S, Kisiday JD.Chondrogenesis of mesenchymal stem cells (MSCs) is induced in culture conditions that have been associated with oxidative stress, although the extent to which the oxidative environment affects differentiation and extracellular matrix (ECM) accumulation is not known. The objectives of this study were to evaluate the oxidative environment during MSCs chondrogenesis in conventional serum-free medium, and the effect of serum-supplementation on intracellular reactive oxygen species (ROS) and chondrogenesis. Young adult equine MSCs were seeded into agarose and cultured in chondrogenic medium, with o...
Cross-validation analysis for genetic evaluation models for ranking in endurance horses.
Animal : an international journal of animal bioscience    June 21, 2017   Volume 12, Issue 1 20-27 doi: 10.1017/S1751731117001331
García-Ballesteros S, Varona L, Valera M, Gutiérrez JP, Cervantes I.Ranking trait was used as a selection criterion for competition horses to estimate racing performance. In the literature the most common approaches to estimate breeding values are the linear or threshold statistical models. However, recent studies have shown that a Thurstonian approach was able to fix the race effect (competitive level of the horses that participate in the same race), thus suggesting a better prediction accuracy of breeding values for ranking trait. The aim of this study was to compare the predictability of linear, threshold and Thurstonian approaches for genetic evaluation of...
Function of bacteriophage G7C esterase tailspike in host cell adsorption.
Molecular microbiology    June 19, 2017   Volume 105, Issue 3 385-398 doi: 10.1111/mmi.13710
Prokhorov NS, Riccio C, Zdorovenko EL, Shneider MM, Browning C, Knirel YA, Leiman PG, Letarov AV.Bacteriophages recognize and bind to their hosts with the help of receptor-binding proteins (RBPs) that emanate from the phage particle in the form of fibers or tailspikes. RBPs show a great variability in their shapes, sizes, and location on the particle. Some RBPs are known to depolymerize surface polysaccharides of the host while others show no enzymatic activity. Here we report that both RBPs of podovirus G7C - tailspikes gp63.1 and gp66 - are essential for infection of its natural host bacterium E. coli 4s that populates the equine intestinal tract. We characterize the structure and funct...
Acquired equine polyneuropathy of Nordic horses: A conspicuous inclusion body schwannopathy.
Neuromuscular disorders : NMD    June 16, 2017   Volume 27, Issue 10 931-941 doi: 10.1016/j.nmd.2017.06.005
Hanche-Olsen S, Matiasek K, Molín J, Rosati M, Hahn C, Hultin Jäderlund K, Gröndahl G.Acquired equine polyneuropathy (AEP), formerly also known as Scandinavian knuckling syndrome, is one of the most prevalent polyneuropathies in equids in Norway and Sweden, with more than 400 cases registered since first observations in 1995. Despite geographical clustering and an association to forage feeding, its aetiology remains unknown. Clinically AEP is characterized by knuckling due to dysfunction of metatarsophalangeal extensor muscles. This neuropathological study aimed to gain further insights in the pathobiology of AEP and its underlying aetiopathogenesis. We thereby confirmed that a...
Genotyping horse epithelial cells from fecal matter by isolation of polymerase chain reaction products.
Croatian medical journal    June 15, 2017   Volume 58, Issue 3 239-249 doi: 10.3325/cmj.2017.58.239
Dimsoski P.To show that application of the polymerase chain reaction (PCR) method modified for amplification of a low-copy number DNA samples, ie, the isolation of PCR products (IPCRp), would represent improvement in obtaining genotypes from a fecal DNA compared with previously used genotyping methods. Methods: The DNA from the horse fecal matter was extracted by modified Qiagen DNA Stool Mini Kit protocol. Following the extraction, the DNA genotypes from fecal samples were obtained by the most powerful PCR amplification method, the IPCRp. The IPCRp-based multiplex kit amplified biotin-labeled strands we...
Transforming Growth Factor-β2 Downregulates Major Histocompatibility Complex (MHC) I and MHC II Surface Expression on Equine Bone Marrow-Derived Mesenchymal Stem Cells Without Altering Other Phenotypic Cell Surface Markers.
Frontiers in veterinary science    June 12, 2017   Volume 4 84 doi: 10.3389/fvets.2017.00084
Berglund AK, Fisher MB, Cameron KA, Poole EJ, Schnabel LV.Allogeneic mesenchymal stem cells (MSCs) are a promising cell source for treating musculoskeletal injuries in horses. Effective and safe allogeneic therapy may be hindered, however, by recipient immune recognition and rejection of major histocompatibility complex (MHC)-mismatched MSCs. Development of strategies to prevent immune rejection of MHC-mismatched MSCs in vivo is necessary to enhance cell survival and potentially increase the efficacy and safety of allogeneic MSC therapy. The purposes of this study were to evaluate if transforming growth factor-β2 (TGF-β2) downregulated MHC expressi...
Mammary gland neoplasia in a Canadian mare: Challenges of diagnosis and treatment in a rural setting.
The Canadian veterinary journal = La revue veterinaire canadienne    June 8, 2017   Volume 58, Issue 6 628-630 
Boyce SD, Goodwin SL.No abstract available
Influence of two ovulation-inducing agents on the pituitary response and follicle blood flow in mares.
Theriogenology    June 8, 2017   Volume 100 95-99 doi: 10.1016/j.theriogenology.2017.05.032
Boakari YL, Ferreira JC, Canesin HS, Thompson DL, Lima FS, Pantoja JCF, Meira C.The objective of the current study was to evaluate the effects of deslorelin and hCG, two ovulation-inducing therapies, on LH surge and follicle vascularity in mares. Thirty mares were either treated with 1.5 mg IM of deslorelin, 2,500 IU IV of hCG or 2 mL IM of NaCl 0.9% (GnRH, hCG and Saline groups, respectively). Power-flow Doppler examination and blood collection were performed every hour during the first 12 hours after treatment (H0) and every six hours between hours 12 (H12) and 30 (H30) after treatment. Moreover, endpoints were evaluated every hour through the last six hours before ovul...
Erratum to: Arrhythmogenic right ventricular cardiomyopathy secondary to adipose infiltration as a cause of episodic collapse in a horse.
Irish veterinary journal    June 7, 2017   Volume 70 19 doi: 10.1186/s13620-017-0099-4
Raftery AG, Cuesta-Garcia N, Thompson H, Sutton DGM.[This corrects the article DOI: 10.1186/s13620-015-0052-3.].
Disseminated Cryptococcus deuterogattii (AFLP6/VGII) infection in an Arabian horse from Dubai, United Arab Emirates.
Revista iberoamericana de micologia    June 7, 2017   Volume 34, Issue 4 229-232 doi: 10.1016/j.riam.2017.02.007
Kinne J, Joseph M, Wernery U, Nogradi N, Hagen F.During the past decades there has been an increase in cryptococcal infections caused by the basidiomycetous yeast species Cryptococcus gattii sensu lato, among humans and animals that live in endemic regions in Australia, Europe and the Americas. Unlike human cryptococcosis, little epidemiological data are available about C. gattii sensu lato infections in horses. Methods: A fatal case of a disseminated C. gattii sensu lato infection in an 11-year-old Arabian gelding imported from South Africa into the United Arab Emitares is reported. Tissue samples were studied by conventional mycology proce...
Regional distribution and integrity of equine ovarian pre-antral follicles.
Reproduction in domestic animals = Zuchthygiene    June 4, 2017   Volume 52, Issue 5 836-841 doi: 10.1111/rda.12986
Gonzalez SM, da Silva CB, Lindquist AG, Bufalo I, Morotti F, Lisboa LA, Seneda M.The goal of this study was to determine the distribution of pre-antral follicles in the ovarian parenchyma of mares. For Experiment 1, each ovary was cut longitudinally at the greater curvature, performing two hemiovaries. After that, six fragments from each hemiovary were obtained, resulting in 12 fragments, which were divided into the innermost region of the parenchyma, the middle region and the outermost region. All the three obtained sections were cut transversally to obtain two fragments from each one. For Experiment 2, each ovary also submitted to a longitudinal cut on the greater curvat...
The refractive state of the eye in Icelandic horses with the Silver mutation.
BMC veterinary research    June 2, 2017   Volume 13, Issue 1 153 doi: 10.1186/s12917-017-1059-7
Johansson MK, Jäderkvist Fegraeus K, Lindgren G, Ekesten B.The syndrome Multiple Congenital Ocular Anomalies (MCOA) is a congenital eye disorder in horses. Both the MCOA syndrome and the Silver coat colour in horses are caused by the same missense mutation in the premelanosome protein (PMEL) gene. Horses homozygous for the Silver mutation (TT) are affected by multiple ocular defects causing visual impairment or blindness. Horses heterozygous for the Silver mutation (CT) have less severe clinical signs, usually cysts arising from the ciliary body iris or retina temporally. It is still unknown if the vision is impaired in horses heterozygous for the Sil...
Current insights into the molecular genetic basis of dwarfism in livestock.
Veterinary journal (London, England : 1997)    June 2, 2017   Volume 224 64-75 doi: 10.1016/j.tvjl.2017.05.014
Boegheim IJM, Leegwater PAJ, van Lith HA, Back W.Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of dwarfism are inherited and result from structural disruptions or disrupted signalling pathways. Hormonal disruptions are evident in Brooksville miniature Brahman cattle and Z-linked dwarfism in chickens, caused by mutations in GH1 and GHR. Furthermore, mutations in IHH are the underlying cause of creep...
Papillomavirus infection and squamous cell carcinoma in horses.
Veterinary journal (London, England : 1997)    May 31, 2017   Volume 223 48-54 doi: 10.1016/j.tvjl.2017.05.007
Sykora S, Brandt S.Squamous cell carcinoma (SCC) is a common disease that seriously impairs the health and welfare of affected horses and other equids. In humans, almost all cervical carcinomas, a high percentage of anogenital SCCs and a subset of SCCs of the head and neck are caused by high-risk human papillomavirus (hrHPV) infection. Since hrHPV-induced human cancers and equine SCC have similar cytological and histopathological features, it has been hypothesised that equine SCCs could also be induced by papillomaviruses. This review provides an overview of the current evidence for an aetiological association b...
Defining the ABC of gene essentiality in streptococci.
BMC genomics    May 31, 2017   Volume 18, Issue 1 426 doi: 10.1186/s12864-017-3794-3
Charbonneau ARL, Forman OP, Cain AK, Newland G, Robinson C, Boursnell M, Parkhill J, Leigh JA, Maskell DJ, Waller AS.Utilising next generation sequencing to interrogate saturated bacterial mutant libraries provides unprecedented information for the assignment of genome-wide gene essentiality. Exposure of saturated mutant libraries to specific conditions and subsequent sequencing can be exploited to uncover gene essentiality relevant to the condition. Here we present a barcoded transposon directed insertion-site sequencing (TraDIS) system to define an essential gene list for Streptococcus equi subsp. equi, the causative agent of strangles in horses, for the first time. The gene essentiality data for this grou...
Genetic diversity of Syrian Arabian horses.
Animal genetics    May 31, 2017   Volume 48, Issue 4 486-489 doi: 10.1111/age.12568
Almarzook S, Reissmann M, Arends D, Brockmann GA.Although Arabian horses have been bred in strains for centuries and pedigrees have been recorded in studbooks, to date, little is known about the genetic diversity within and between these strains. In this study, we tested if the three main strains of Syrian Arabian horses descend from three founders as suggested by the studbook. We examined 48 horses representing Saglawi (n = 18), Kahlawi (n = 16) and Hamdani (n = 14) strains using the Equine SNP70K BeadChip. For comparison, an additional 24 Arabian horses from the USA and three Przewalski's horses as an out group were added. Observed h...
Molecular characterisation of equine group A rotaviruses in Ireland (2011-2015).
Veterinary journal (London, England : 1997)    May 31, 2017   Volume 226 12-14 doi: 10.1016/j.tvjl.2017.05.004
Nemoto M, Ryan E, Lyons P, Cullinane A.The molecular epidemiology of equine group A rotaviruses (RVAs) in Ireland from 2011 to 2015 was investigated. Of 438 diagnostic specimens submitted from foals with enteric disease, 102 (23.3%) were positive for RVA using an immunochromatographic assay. G genotypes were determined for 76 equine RVAs, of which 68 (89.5%) were G3 and eight (10.5%) were G14. Of 18 RVAs (12 G3 and six G14) characterised by P genotyping, all were P[12]. G3P[12] and G14P[12] were the most prevalent genotypes of RVA in foals in Ireland, similar to other countries and consistent with previous studies in Ireland from 1...
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