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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.
Morphological and genetic diversity of Pura Raza Español horse with regard to the coat colour.
Animal science journal = Nihon chikusan Gakkaiho    November 22, 2018   Volume 90, Issue 1 14-22 doi: 10.1111/asj.13102
Gene mutations influencing melanocytes also impact on physiological and behavioural functions. In this study, we investigated their association with four different coat colours in the Pura Raza Español (PRE) horse using morphological traits and molecular datasets. Four different subpopulations were identified according to individual coat colour: grey, bay, chestnut and black. Coat colour significantly associated with morphological measurements. Observed and expected heterozygosity values were low in grey compared with the other three subpopulations, suggesting the presence of unique ancestral...
Galectins-1 and-3 Increase in Equine Post-traumatic Osteoarthritis.
Frontiers in veterinary science    November 20, 2018   Volume 5 288 doi: 10.3389/fvets.2018.00288
Reesink HL, Nixon AJ, Su J, Liu S, Sutton RM, Mann S, Watts AE, Peterson RP.Galectins are potent regulators of cell adhesion, growth and apoptosis in diverse cell types, including chondrocytes and synovial fibroblasts. Elevations in synovial fluid galectin-3 have been observed in rheumatoid arthritis, juvenile idiopathic arthritis and experimental inflammatory arthritis in animal models, whereas galectin-1 is thought to be protective. Less is known about galectins-1 and-3 in osteoarthritis (OA). Therefore, the purpose of this study was: (1) to determine whether galectin-1 and-3 synovial fluid concentrations and synovial membrane and cartilage histochemical staining we...
Spread of the emerging equine-like G3P[8] DS-1-like genetic backbone rotavirus strain in Brazil and identification of potential genetic variants.
The Journal of general virology    November 20, 2018   Volume 100, Issue 1 7-25 doi: 10.1099/jgv.0.001171
Luchs A, da Costa AC, Cilli A, Komninakis SCV, Carmona RCC, Boen L, Morillo SG, Sabino EC, Timenetsky MDCST.In 2013, the equine-like G3P[8] DS-1-like rotavirus (RVA) strain emerged worldwide. In 2016, this strain was reported in northern Brazil. The aims of the study were to conduct a retrospective genetic investigation to identify the possible entry of these atypical strains in Brazil and to describe their distribution across a representative area of the country. From 2013 to 2017, a total of 4226 faecal samples were screened for RVA by ELISA, PAGE, RT-PCR and sequencing. G3P[8] represented 20.9 % (167/800) of all RVA-positive samples, further subdivided as equine-like G3P[8], DS-1-like (11.0 %...
Nicotine-sensitive acetylcholine receptors are relevant pharmacological targets for the control of multidrug resistant parasitic nematodes.
International journal for parasitology. Drugs and drug resistance    November 20, 2018   Volume 8, Issue 3 540-549 doi: 10.1016/j.ijpddr.2018.11.003
Charvet CL, Guégnard F, Courtot E, Cortet J, Neveu C.The control of parasitic nematodes impacting animal health relies on the use of broad spectrum anthelmintics. However, intensive use of these drugs has led to the selection of resistant parasites in livestock industry. In that respect, there is currently an urgent need for novel compounds able to control resistant parasites. Nicotine has also historically been used as a de-wormer but was removed from the market when modern anthelmintics became available. The pharmacological target of nicotine has been identified in nematodes as acetylcholine-gated ion channels. Nicotinic-sensitive acetylcholin...
Improved reference genome for the domestic horse increases assembly contiguity and composition.
Communications biology    November 16, 2018   Volume 1 197 doi: 10.1038/s42003-018-0199-z
Kalbfleisch TS, Rice ES, DePriest MS, Walenz BP, Hestand MS, Vermeesch JR, O Connell BL, Fiddes IT, Vershinina AO, Saremi NF, Petersen JL, Finno CJ....Recent advances in genomic sequencing technology and computational assembly methods have allowed scientists to improve reference genome assemblies in terms of contiguity and composition. EquCab2, a reference genome for the domestic horse, was released in 2007. Although of equal or better quality compared to other first-generation Sanger assemblies, it had many of the shortcomings common to them. In 2014, the equine genomics research community began a project to improve the reference sequence for the horse, building upon the solid foundation of EquCab2 and incorporating new short-read data, lon...
Identification and expression analysis of a novel miRNA derived from ERV-E1 LTR in Equus caballus.
Gene    November 16, 2018   Volume 687 238-245 doi: 10.1016/j.gene.2018.11.043
Jo A, Lee HE, Kim HS.Horses (Equus caballus) have been domesticated and bred to enhance speed, strength, and agility. Members of the Equus caballus Endogenous Retrovirus (EqERV) family affect several of these abilities in horses. EqERV elements have been integrated in the horse genome during evolution and generate repeat elements such as long terminal repeats (LTRs). LTR sequences are involved in retrovirus replication and play an essential function in post-transcriptional control mechanisms, such as by providing binding sites for microRNAs (miRNAs) or generating miRNA precursors. In this study, we identified a no...
The deletion of the ORF1 and ORF71 genes reduces virulence of the neuropathogenic EHV-1 strain Ab4 without compromising host immunity in horses.
PloS one    November 15, 2018   Volume 13, Issue 11 e0206679 doi: 10.1371/journal.pone.0206679
Wimer CL, Schnabel CL, Perkins G, Babasyan S, Freer H, Stout AE, Rollins A, Osterrieder N, Goodman LB, Glaser A, Wagner B.The equine herpesvirus type 1 (EHV-1) ORF1 and ORF71 genes have immune modulatory effects in vitro. Experimental infection of horses using virus mutants with multiple deletions including ORF1 and ORF71 showed promise as vaccine candidates against EHV-1. Here, the combined effects of ORF1 and ORF71 deletions from the neuropathogenic EHV-1 strain Ab4 on clinical disease and host immune response were further explored. Three groups of EHV-1 naïve horses were experimentally infected with the ORF1/71 gene deletion mutant (Ab4ΔORF1/71), the parent Ab4 strain, or remained uninfected. In comparison t...
Antimicrobial Susceptibility and Clonal Relationship of Tetracycline Resistance Genes in netF-Positive Clostridium perfringens.
Microbial drug resistance (Larchmont, N.Y.)    November 15, 2018   Volume 25, Issue 4 627-630 doi: 10.1089/mdr.2018.0341
Mehdizadeh Gohari I, Boerlin P, Prescott JF.NetF-producing type A Clostridium perfringens, a pathotype of C. perfringens, causes necrotizing enteritis in neonatal foals and necrotizing and hemorrhagic enteritis in dogs. Recent core genome multilocus sequence typing study revealed that netF+ C. perfringens strains belong to two distinct clonal populations (clonal complexes I and II). There are no reports on susceptibility to antimicrobial drugs of isolates from this pathotype. The susceptibility to 13 different antimicrobial drugs of 49 netF+ strains recovered from foals or dogs with necrotizing enteritis in Canada, the United States, an...
Structure and gene cluster of the O antigen of Escherichia coli F17, a candidate for a new O-serogroup.
International journal of biological macromolecules    November 15, 2018   Volume 124 389-395 doi: 10.1016/j.ijbiomac.2018.11.149
Escherichia coli F17 isolated from horse feces was studied in respect to the O antigen (O polysaccharide) structure and genetics. The lipopolysaccharide was isolated by phenol-water extraction of bacterial cells and cleaved by mild acid hydrolysis to yield the O polysaccharide, which was studied by sugar analysis and selective solvolysis with CFCOH along with one- and two-dimensional H and C NMR spectroscopy. The O polysaccharide was found to have a branched pentasaccharide repeat (O-unit) containing one residue each of d-galactose, d-mannose, l-rhamnose, d-glucuronic acid, and N-acetyl-d-gluc...
Induction of Recombinant Lectin Expression by an Artificially Constructed Tandem Repeat Structure: A Case Study Using Bryopsis plumosa Mannose-Binding Lectin.
Biomolecules    November 14, 2018   Volume 8, Issue 4 146 doi: 10.3390/biom8040146
Hwang HJ, Han JW, Jeon H, Han JW.Lectin is an important protein in medical and pharmacological applications. Impurities in lectin derived from natural sources and the generation of inactive proteins by recombinant technology are major obstacles for the use of lectins. Expressing recombinant lectin with a tandem repeat structure can potentially overcome these problems, but few studies have systematically examined this possibility. This was investigated in the present study using three distinct forms of recombinant mannose-binding lectin from (BPL2)-i.e., the monomer (rD1BPL2), as well as the dimer (rD2BPL2), and tetramer (rD4...
Robust remapping of equine SNP array coordinates to EquCab3.
Animal genetics    November 13, 2018   Volume 50, Issue 1 114-115 doi: 10.1111/age.12745
Beeson SK, Schaefer RJ, Mason VC, McCue ME.No abstract available
A multinested PCR for detection of the equine piroplasmids Babesia caballi and Theileria equi.
Ticks and tick-borne diseases    November 13, 2018   Volume 10, Issue 2 305-313 doi: 10.1016/j.ttbdis.2018.11.008
Montes Cortés MG, Fernández-García JL, Habela Martínez-Estéllez MÁ.Two haemoparasites, Theileria equi and Babesia caballi, cause equine piroplasmosis (EP), one of the most prevalent tick-borne diseases in horses. The main aim of the present study was to develop and evaluate a multinested PCR (mn-PCR) for simultaneous detection of the equine piroplasmids T. equi and B. caballi, by amplification of five genetic markers (18S rRNA, β-tubulin, cytB, EMA-1 and RAP-1). This novel assay detected a high prevalence of equine piroplasmids in 235 horse blood samples collected in Castilla-León and Extremadura, Spain. The overall prevalence of infection with equine pirop...
Role of homocysteine metabolism in animal reproduction: A review.
Research in veterinary science    November 12, 2018   Volume 122 29-35 doi: 10.1016/j.rvsc.2018.11.011
Rizzo A, Sciorsci RL.Homocysteine (Hcy) is a thiol-containing essential amino acid, important for the growth of cells and tissues. Several hypotheses exist regarding Hcy toxicity in humans; Hcy is involved in protein structural modifications, oxidative stress, and neurotoxicity induction and is therefore associated with several pathological conditions in humans. In veterinary science, knowledge regarding Hcy has increased recently due to several studies; however, many aspects remain undiscovered. Many details remain unknown regarding the effect of Hcy levels on pregnancy and the optimal management of pathological ...
Distribution, Diversity, and Evolution of Endogenous Retroviruses in Perissodactyl Genomes.
Journal of virology    November 12, 2018   Volume 92, Issue 23 e00927-18 doi: 10.1128/JVI.00927-18
Zhu H, Gifford RJ, Murcia PR.The evolution of mammalian genomes has been shaped by interactions with endogenous retroviruses (ERVs). In this study, we investigated the distribution and diversity of ERVs in the mammalian order , with a view to understanding their impact on the evolution of modern equids (family ). We characterize the major ERV lineages in the horse genome in terms of their genomic distribution, ancestral genome organization, and time of activity. Our results show that subsequent to their ancestral divergence from rhinoceroses and tapirs, equids acquired four novel ERV lineages. We show that two of these ER...
Cell Identity, Proliferation, and Cytogenetic Assessment of Equine Umbilical Cord Blood Mesenchymal Stromal Cells.
Stem cells and development    November 10, 2018   Volume 27, Issue 24 1729-1738 doi: 10.1089/scd.2018.0105
Alizadeh AH, Briah R, Villagomez DAF, King WA, Koch TG.The aim of the present work was to determine proliferation capacity, immunophenotype and genome integrity of mesenchymal stromal cells (MSCs) from horse umbilical cord blood (UCB) at passage stage 5 and 10. Passage 4 cryopreserved UCB-MSCs from six unrelated donors were evaluated. Immunophenotypic analysis of UCB-MSC revealed a cell identity consistent with equine MSC phenotype by high expression of CD90, CD44, CD29, and very low expression of CD4, CD11a/18, CD73, and MHC class I and II antigens. Proliferative differences were noted among the UCB-MSC cultures. UCB-MSCs karyotype characteristic...
Anti-Müllerian hormone and ovarian aging in mares.
The Journal of endocrinology    November 8, 2018   Volume 240, Issue 2 147-156 doi: 10.1530/JOE-18-0391
Uliani RC, Conley AJ, Corbin CJ, Friso AM, Maciel LFS, Alvarenga MA.Anti-Müllerian hormone (AMH) is used as a marker of follicle population numbers and potential fertility in several species including horses but limited data exist across the lifespan. No one has decreased ovarian reserve experimentally to investigate whether a corresponding, quantitative decrease in AMH results. Concentrations of AMH across the lifespan were compiled from 1101 equine females sampled from birth to >33 years of age. Young and old mares (averaging 6 and 19 years) were hemi-ovariectomized and circulating AMH was assessed before and daily thereafter for 15 days. The remaining o...
Chronic iron overload causing haemochromatosis and hepatopathy in 21 horses and one donkey.
Equine veterinary journal    November 5, 2018   Volume 51, Issue 3 304-309 doi: 10.1111/evj.13029
Theelen MJP, Beukers M, Grinwis GCM, Sloet van Oldruitenborgh-Oosterbaan MM.Iron toxicosis is rarely reported in horses and chronic excessive oral iron intake has not been reported to cause clinical symptoms in equids. Objective: This case series describes 21 genetically unrelated horses and one donkey with chronic iron overload causing haemochromatosis and hepatopathy. Methods: Case series. Methods: All equids showing clinical signs compatible with chronic liver disease presented to Utrecht University and diagnosed with iron overload and haemochromatosis based on histopathological evaluation of liver tissue and/or blood transferrin saturation levels of >80% and proof...
Improvement in Semen Conservation of the Indigenous Czech Endangered Old Kladruber Horse: Special Focus on the Type of Extender and Packaging System.
Journal of equine veterinary science    November 3, 2018   Volume 72 101-107 doi: 10.1016/j.jevs.2018.10.026
Šichtař J, Šimoník O, Bubeníčková F, Svobodová J, Nehasilová A.The aim of our study was to investigate the effect of two freezing extenders and two packaging systems on motility, plasma membrane (PM) integrity, and the apoptotic status of frozen-thawed (F-T) spermatozoa of the endangered Old Kladruber stallions. The collected semen (n = 6 stallions, three collections each) was diluted either with Gent or Lactose-EDTA (Lact) extender. Two aliquots of semen from each collection diluted in this way were prepared and then loaded into 5-mL aluminum tubes or 0.5-mL plastic straws. After thawing and then at 15 minutes intervals within 1 hour, the samples were ...
Impairment of the antifibrotic prostaglandin E2 pathway may influence neutrophil extracellular traps-induced fibrosis in the mare endometrium.
Domestic animal endocrinology    November 3, 2018   Volume 67 1-10 doi: 10.1016/j.domaniend.2018.10.004
Rebordão MR, Amaral A, Lukasik K, Szóstek-Mioduchowska A, Pinto-Bravo P, Galvão A, Skarzynski DJ, Ferreira-Dias G.Prostaglandin E (PGE) has contradictory effects in many organs. It may have proinflammatory, anti-inflammatory, or anti-fibrotic roles, depending on the type of receptors to which it binds. By signaling through its receptors EP2 and EP4, PGE mediates anti-inflammatory and anti-fibrotic actions. In spite of chronic endometrial fibrosis (endometrosis) being a major cause of mare infertility, its pathogenesis is not fully understood. We have shown that contact of mare endometrium in vitro with neutrophil extracellular traps (NETs) proteases favors endometrial collagen type I production. Therefor...
The “speed gene” effect of myostatin arises in Thoroughbred horses due to a promoter proximal SINE insertion.
PloS one    October 31, 2018   Volume 13, Issue 10 e0205664 doi: 10.1371/journal.pone.0205664
Rooney MF, Hill EW, Kelly VP, Porter RK.Thoroughbred horses are finely-tuned athletes with a high aerobic capacity relative to skeletal muscle mass, attributable to centuries of genetic selection for speed and stamina. Polymorphisms in the myostatin gene (MSTN), a pronounced inhibitor of skeletal muscle growth, have been shown to almost singularly account for gene-based race distance aptitude in racehorses. In Thoroughbreds, two MSTN polymorphisms, a single nucleotide variation in the first intron (SNP g.66493737C>T) and a non-coding transposable element within the promoter region (a 227 bp SINE insertion) are of particular inter...
Corrigendum to ‘DNA methylation patterns of the S100A14, POU2F3 and SFN genes in equine sarcoid tissues’ Research in Veterinary Science 119 (2018) 302-307.
Research in veterinary science    October 30, 2018   Volume 121 116 doi: 10.1016/j.rvsc.2018.10.012
Semik-Gurgul E, Ząbek T, Fornal A, Wnuk M, Pawlina-Tyszko K, Gurgul A, Klukowska-Rötzler J, Koch C, Mählmann K, Bugno-Poniewierska M.No abstract available
Sequence analysis and expression profiling of the equine ACTN3 gene during exercise in Arabian horses.
Gene    October 30, 2018   Volume 685 149-155 doi: 10.1016/j.gene.2018.10.079
Ropka-Molik K, Stefaniuk-Szmukier M, Musiał AD, Piórkowska K, Szmatoła T.The ACTN3 gene codes for α-actinin-3, a protein localized in the Z-line in the skeletal muscle. Actinin-3 is critical in anchoring the myofibrillar actin filaments and plays a key role in muscle contraction. ACTN3 (α-actinin-3) cross-links glycogen phosphorylase (GP), which is the key enzyme catalysing glycogen metabolism. The aim of present study was to establish the expression level of the ACTN3 gene (for both isoforms separately and together in the gene expression analysis) in the gluteus medius muscle in order to verify if the α-actinin-3 gene can be related to training intensity in Ara...
Concern Regarding the Publication by Posbergh et al. “A Nonsynonymous Change in Adhesion G Protein-Coupled Receptor L3 Associated With Risk for Equine Degenerative Myeloencephalopathy in the Caspian Horse,” J Equine Vet Sci 2018;70:96-100.
Journal of equine veterinary science    October 29, 2018   Volume 72 124 doi: 10.1016/j.jevs.2018.10.021
Leeb T.No abstract available
Establishment of Monoclonal Antibody PMab-202 Against Horse Podoplanin.
Monoclonal antibodies in immunodiagnosis and immunotherapy    October 27, 2018   Volume 37, Issue 5 233-237 doi: 10.1089/mab.2018.0030
Furusawa Y, Yamada S, Itai S, Sano M, Nakamura T, Yanaka M, Handa S, Mizuno T, Maeda K, Fukui M, Harada H, Kaneko MK, Kato Y.Podoplanin (PDPN), a type I transmembrane glycoprotein, is expressed in several body tissues, including podocytes of renal glomerulus, type I alveolar cells of lung, and lymphatic endothelial cells. PDPN activates platelet aggregation by binding to C-type lectin-like receptor-2 (CLEC-2) presented on platelets. Monoclonal antibodies (mAbs) against human-, mouse-, rat-, rabbit-, dog-, bovine-, and cat-PDPN have already been established. However, anti-horse PDPN mAbs have not yet been developed. In this study, we immunized mice with synthetic horse PDPN peptides and developed anti-horse PDPN mAbs...
Molecular identification and characterization of nonprimate hepaciviruses in equines.
Archives of virology    October 25, 2018   Volume 164, Issue 2 391-400 doi: 10.1007/s00705-018-4077-2
Schlottau K, Fereidouni S, Beer M, Hoffmann B.Hepatitis C virus (HCV) is a positive-sense RNA virus belonging to the genus Hepacivirus, family Flaviviridae. Its genome has a length of 9.6 kb and encodes a single polyprotein flanked by two untranslated regions. HCV can cause liver cirrhosis and hepatocellular carcinoma, and approximately 2% of the world's population is chronically infected. The investigation of pathogenesis is complicated due to the lack of an animal model. The origin of this virus remains unclear, but in the last few years, relatives of HCV were initially identified in dogs and later in horses, rodents, bats and Old World...
SRSF6 is upregulated in asthmatic horses and involved in the MYH11 SMB expression.
Physiological reports    October 24, 2018   Volume 6, Issue 20 e13896 doi: 10.14814/phy2.13896
Issouf M, Vargas A, Boivin R, Lavoie JP.Smooth muscle has a central role in bronchospasm-induced airway obstruction in asthma. Alternative mRNA splicing of the smooth muscle myosin heavy chain (myh11) gene produces four different isoforms, one of which (SMB) is characterized by the inclusion of the exon5b, which doubles the smooth muscle cells contraction velocity. Deciphering the regulation of the expression levels of the SMB isoform would represent a major step for the understanding of the triggers and pathways leading to airway smooth muscle contraction in asthma. Our objective was therefore, to study the splicing regulation mech...
SNP-based heritability and genetic architecture of tarsal osteochondrosis in North American Standardbred horses.
Animal genetics    October 24, 2018   Volume 50, Issue 1 78-81 doi: 10.1111/age.12738
McCoy AM, Norton EM, Kemper AM, Beeson SK, Mickelson JR, McCue ME.Osteochondrosis is a common developmental orthopedic disease characterized by a failure of endochondral ossification. Standardbred horses are recognized as being predisposed to tarsal osteochondrosis. Prior heritability estimates for tarsal osteochondrosis in European Standardbreds and related trotting breeds have been based on pedigree data and range from 17-29%. Here, we report on genetic architecture and heritability based on high-density genotyping data in a cohort of North American Standardbreds (n = 479) stringently phenotyped for tarsal osteochondrosis. Whole-genome array genotyping d...
Identification and genetic characterization of a novel parvovirus associated with serum hepatitis in horses in China.
Emerging microbes & infections    October 23, 2018   Volume 7, Issue 1 170 doi: 10.1038/s41426-018-0174-2
Lu G, Sun L, Ou J, Xu H, Wu L, Li S.A novel equine parvovirus, equine parvovirus-hepatitis (EqPV-H), was first discovered in a horse that died of equine serum hepatitis in the USA in 2018. EqPV-H was shown to be a novel etiological agent associated with equine serum hepatitis. Following this initial report, no additional studies on EqPV-H have been published. In this study, a total of 143 serum samples were collected from racehorses at 5 separate farms in China and were analyzed to detect EqPV-H DNA via nested PCR. The results indicated a high prevalence of EqPV-H (11.9%, 17/143) in the studied animals. In addition, a remarkably...
Evaluation of DNA Damage of Mare Granulosa Cells Before and After Cryopreservation Using a Chromatin Dispersion Test.
Journal of equine veterinary science    October 21, 2018   Volume 72 28-30 doi: 10.1016/j.jevs.2018.10.019
Pereira BC, Ortiz I, Dorado J, Consuegra C, Diaz-Jimenez M, Demyda-Peyras S, Gosalvez J, Hidalgo M.DNA fragmentation of granulosa cells might be related to developmental competence of the equine oocyte. Granulosa cells are commonly stored before DNA fragmentation assessment, but the effect of preservation methods on this parameter remains unexplored. The aim of this study was to evaluate whether or not cryopreservation of granulosa cells affects the DNA damage. Equine oocytes were recovered from postmortem ovaries of five mares. Granulosa cells were washed by centrifugation and then analyzed (control) or stored in cryovials following four different protocols: P1 = directly plunged in liqui...
Stereotypic horses (Equus caballus) are not cognitively impaired.
Animal cognition    October 17, 2018   Volume 22, Issue 1 17-33 doi: 10.1007/s10071-018-1217-8
Briefer Freymond S, Ruet A, Grivaz M, Fuentes C, Zuberbühler K, Bachmann I, Briefer EF.Stereotypies in animals are thought to arise from an interaction between genetic predisposition and sub-optimal housing conditions. In domestic horses, a well-studied stereotypy is crib-biting, an abnormal behaviour that appears to help individuals to cope with stressful situations. One prominent hypothesis states that animals affected by stereotypies are cognitively less flexible compared to healthy controls, due to sensitization of a specific brain area, the basal ganglia. The aim of this study was to test this hypothesis in crib-biting and healthy controls, using a cognitive task, reversa...
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