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.
Vandeplassche M, Podliachouk L, Beaud R.A study has been made of 44 cases of twin pregnancy in mares. The fetuses, foals, fetal membranes and blood groups of parents and foals were examined in order to determine the incidence of chorio-vascular anastomosis, blood chimaerism and freemartinism. All of the twins proved to be dizygotic and 33 of the 34 pregnancies were bicornual. Fusion of the chorion was seen in 14 of 22 placentas and macroscopic choriovascular bridges were observed in five of these, although blood chimaerism was diagnosed in 11 of 25 cases (44 per cent) examined. This would indicate a high incidence of microchoriovasc...
Budnitskaya P, Gapanhuk E, Henriques OB.The kininogenase activity of trypsin, plasmin, plasma kallikrein and heated Bothrops venom was compared, using fresh, heated and heat-acid-denatured horse plasma as source of kininogen. The venom kininogenase was found to have the highest activity on fresh horse plasma, followed by plasmin and trypsin which were equally active, and plasma kallikrein which was half as active as plasmin on these substrates. Plasmin and trypsin released more kinin from heat-treated than from fresh plasma whereas kallikrein released half as much as it liberates from fresh plasma. On heat-aciddenatured plasma equal...
Helms CM, Allen PZ.Immunodiffusion analysis of papain digestion products, heavy and light chains of horse IgG-globulins with several rabbit and anti-horse IgG sera, have permitted the demonstration of five antigenic specificities (Fc1, Fc2, L, Lsp and Fabsp) associated with these equine antigens. Reactivity with anti-Fc1 is shown by both F′c and Fc fragments, while anti-Fc2 reactivity is shown only by Fc fragment.
Absorption of anti-Fab serum with L chain Fc fragment provides a reagent (anti-Fabsp) which precipitates only with Fab fragment, IgG-globulin or reduced and alkylated IgG. Upon exposure to deterge...
Montgomery PC, Bello AC, Rockey JH.N-terminal tetrapeptides from heavy chains of equine γGab- and γT-globulins, and of human γG and γA myeloma proteins and a γM macroglobulin, have been studied. The equine and human heavy chains lacked free α-amino-terminal groups. After mild alkaline hydrolysis, glutamic acid was identified as the terminal amino acid by reaction with dimethylaminonaphthalenesulfonyl chloride, tentatively identifying pyrrolid-2-one-5-carboxylic acid (PCA) as the unreactive terminal residue of each heavy chain. Peptides lacking a free α-amino group were isolated from subtilisin and pronase digests of the ...
Richter GW, Moppert GA, Lee JC.1. Fingerprints of tryptic digests of apoferritins from a human liver, horse spleens and ACI rat livers were made by means of electrophoresis and chromatography on microcrystalline cellulose, and were compared.
2. All tryptic peptides also present in apoferritins from the human liver and the horse spleens were also present in apoferritin from the rat livers.
3. In the digests of horse and of rat apoferritin there was a peptide that was not present in the digests of human apoferritin. Another peptide was obtained from human and from rat apoferritin, but not from horse apoferritin.
4. T...
Melnick JL, Hampil B.This paper smmarizes the results of the third part of co-operative studies undertaken by the WHO International Reference Centre for Enteroviruses and a number of WHO Regional Virus Reference Centres and WHO Virus Collaborating Laboratories and other laboratories in a comprehensive testing programme of enterovirus equine antisera prepared for long-term use as reference antisera. The studies were designed to appraise the specificity of the immune serum of horses inoculated with prototype enteroviruses (coxsackie-viruses A1, A5, A6, A12 and A22 and echoviruses 5, 6, 13-16, 18-20, 22-26, 29 and 32...
Solar Diaz IDP, Strauss Borges Junqueira G, Aparecida Rocha Cruz V, Albano Araújo de Oliveira C, Nunes de Oliveira H, Miguel Ferreira de Camargo G....Principal component analysis (PCA) was applied to evaluate the genetic variability and relationship between 15 morphometric traits in 91,483 Campolina horses, as well as to propose an index based on an aggregate genotype that promotes a particular selection objective. PCA was applied to the genetic (co)variance matrix among variables. After calculation of the principal components, the breeding values were estimated to obtain an index related to the component that explained most of the variation. The first principal component (PC1) accounted for 97.8% of the total additive genetic variance of t...
Campbell MLH, Peachey L, Callan L, Wathes DC, de Mestre AM.This study was conducted to elucidate mare cervical dilation mechanisms by testing two hypotheses: (i) the proportion of collagen staining in histological samples of mare cervices and (ii) the abundance of hormone receptors in the equine cervix differ with stage of the oestrous cycle and site within the cervix. Tissues and jugular vein blood samples were collected from 15 mares. Collagen content was assessed using Masson's Trichome staining. Receptor abundance was assessed using RT-PCR, qRT-PCR and immunohistochemistry. In sub-epithelial stroma, there was less collagen during the follicular th...
Corbin CJ, Legacki EL, Ball BA, Scoggin KE, Stanley SD, Conley AJ.The 5α-reductase enzymes play an important role during male sexual differentiation, and in pregnant females, especially equine species where maintenance relies on 5α-reduced progesterone, 5α-dihydroprogesterone (DHP). Epididymis expresses 5α-reductases but was not studied elaborately in horses. Epididymis from younger and older postpubertal stallions was divided into caput, corpus and cauda and examined for 5α-reductase activity and expression of type 1 and 2 isoforms by quantitative real-time polymerase chain reaction (qPCR). Metabolism of progesterone and testosterone to DHP and dihydro...
Dacre KJ, McAleese SM, Knight P, McGorum BC, Pemberton AD.Mast cell mediators are believed to play a central role in inflammatory lung disorders such as human allergic and occupational asthma. Equine heaves is characterized by reversible neutrophilic airway inflammation and airway obstruction, primarily due to bronchospasm and mucus hypersecretion, following exposure of susceptible horses to organic stable dusts. As such, heaves shares many similarities with human occupational dust-induced asthma and therefore it is proposed that mast cells may also be implicated in the pathogenesis of heaves. Tryptase, a mast cell-specific proteinase, can be used as...
Ennulat D, Brown CA, Brown SA.To evaluate the effects of epidermal growth factor (EGF) and platelet-derived growth factor (PDGF) on canine and equine mesangial cell (MC) proliferation in vitro. Methods: Third- through eighth-passage canine and equine MC were obtained from explant outgrowth after differential sieving of glomeruli isolated from the kidneys of clinically normal dogs and horses. Methods: Mitogenic effects of serum, insulin, EGF, and PDGF were evaluated in MC by induction of DNA synthesis, measured as stimulation of [3H]thymidine incorporation and increase in cell numbers. Results: Epidermal growth factor was a...
Rivera-Velez A, Huber L, Sinha S, Cohen ND.Rhodococcus equi is a common cause of severe pneumonia in foals. Emergence of macrolide-resistant R. equi isolated from foals and their environment has been reported in the United States. A novel erm(51) gene was recently identified in R. equi in soil from horse farms in Kentucky. Our objective was to determine the effect of the erm(51) gene and associated rpoB mutation on the fitness of multidrug resistant-R. equi (MDR-R. equi) under different nutrient conditions. Bacterial growth curves were generated for 3 MDR-R. equi isolates and 3 wild-type (WTN) R. equi isolates recovered from environmen...
Gable TL, Woods GL.The objectives were to compare cumulus type with nucleus form in equine cumulus oocyte complexes (COCs), to define the percentage of germinal vesicle (GV)-stage oocytes within a population of mares, and to further define GV nucleus shapes of equine oocytes. Cumulus types were as follows: 1) compact (56/208, 26.9%), 2) slightly expanded (37/208, 17.8%), 3) moderately expanded (27/208, 13.0%), 4) greatly expanded (15/208, 7.2%), or 5) denuded (73/208, 35.1%). One hundred thirty of 208 COCs (62.5%) were GV-stage, 21/208 (10.1%) were condensed chromatin-stage, 8/208 (3.8%) were polar body-stage, 4...
Kamalov AA, Gukhikh GT, Kirpatovskiĭ VI, Zaraĭskiĭ EI, Poltavtseva RA, Plotnikov EIu, Kudriavtsev IuV, Efremov EA, Obokhotov DA.The study of cell cultures enriched with stem and progenitor cells in the treatment of experimental hypergonadotropic hypogonadism was made on 30 white non-inbred rats with experimental cryptorchism who have undergone xenotransplantation of human fetal enriched cell cultures. Spermatogenic epithelium on histological sections was studied on day 14 and 28 after xenotransplantation with calculation of the spermatogenesis index. The fertility index was estimated for each of the groups. Transplantation of enriched cell cultures enhances efficacy of restoration of adequate germinogenic and spermatog...
Kumar S, Ashraf M, Pannu U, Mehta SC.In equines, muscle exercise highly affects the expression of genes which are associated with secretion of cytokines. Myokines are the group of cytokines that are produced by skeletal muscles during exercise. Interleukin-6 (IL-6) and Interleukin-8 (IL-8) are among such myokines. This study was therefore taken up in 42 animals of Marwari, Kathiawari, Manipuri and Zanskari horses; and Poitou and Halari donkeys to find out the Single Nucleotide Polymorphisms (SNPs) in the IL-6 and IL-8 genes. Sequence analysis of exon 2 of IL-6 gene revealed an intronic SNP (C>T) at position Equcab3.0:4:54607583 i...
McGowan CM, Ireland JL.Equine endocrine disease is an important area for equine research, requiring an appropriate case definition for inclusion and criteria for exclusion from disease. Defining a case for research may be different from criteria for clinical diagnosis. Further, clinical diagnosis recommendations have been changing regularly, making this area challenging for equine scientists. This review discusses the diagnosis of major equine endocrine diseases, pituitary pars intermedia dysfunction, equine metabolic syndrome and insulin dysregulation, focusing on the most appropriate diagnostic methods for researc...
Weitkamp LR, MacCluer JW, Guttormsen S, McKnight J, Wert N, Witmer J, Boyce P, Egloff J.Reproductive performance of 10 Standardbred stallions was related to the probability that the embryo resulting from a given mating would be heterozygous for transferrin or plasma esterase. Fertility, measured by foaling rate per insemination or by foaling rate per year, showed a highly significant regression on the probability of offspring heterozygosity for transferrin and, to lesser extent, for esterase. Substantial differences between stallions in the slope of the regression line and no deficiency of foals homozygous for either protein suggests that the relationship to fertility is indirect...
Bosken JM, Lehner AF, Hunsucker A, Harkins JD, Woods WE, Karpiesiuk W, Carter WG, Boyles J, Fisher M, Tobin T.Isoxsuprine is routinely recovered from enzymatically-hydrolyzed, post-administration urine samples as parent isoxsuprine in equine forensic science. However, the specific identity of the material in horse urine from which isoxsuprine is recovered has never been established, although it has long been assumed to be a glucuronide conjugate (or conjugates) of isoxsuprine. Using ESI/MS/MS positive mode as an analytical tool, urine samples collected 4-8 h after isoxsuprine administration yielded a major peak at m/z 554 that was absent from control samples and resisted fragmentation to daughter ions...
Tosi I, Art T, Cassart D, Farnir F, Ceusters J, Serteyn D, Lemieux H, Votion DM.Polysaccharide storage myopathy (PSSM) is a widely described cause of exertional rhabdomyolysis in horses. Mitochondria play a central role in cellular energetics and are involved in human glycogen storage diseases but their role has been overlooked in equine PSSM. We hypothesized that the mitochondrial function is impaired in the myofibers of PSSM-affected horses. Nine horses with a history of recurrent exercise-associated rhabdomyolysis were tested for the glycogen synthase 1 gene (GYS1) mutation: 5 were tested positive (PSSM group) and 4 were tested negative (horses suffering from rhabdomyo...
Van Driessche K, Ducatelle R, Chiers K, Van Coster R, van der Kolk JH.Very few mitochondrial myopathies have been described in horses. Objective: To examine the ultrastructure of muscle mitochondria in equine cases of myopathy of unknown origin. Methods: Biopsies of vastus lateralis of the Musculus quadriceps femoris were taken predominantly immediately post mortem and processed for transmission electron microscopy. As a result, electron micrographs of 90 horses in total were available for analysis comprising 4 control horses, 16 horses suffering from myopathy and 70 otherwise diseased horses. Results: Following a thorough clinical and laboratory work-up, four o...
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...
Marquardt J, Heymer J, Heinz H, Deegen E, Adolf GR, Leibold W.Interferon is known to induce antiviral mechanisms and to exert immunoregulatory capacities on various cell types. The antiviral capacity of recombinant equine interferon-beta 1 (rEqIFN-beta 1) is most sensitively monitored by indirect quantitation of multiplication of vesicular stomatitis virus (VSV) in blood cells of horses. As few as 0.5 pg rEqIFN-beta 1/ml can be assessed by means of 90% reduction of VSV-replication in whole blood (w.b.) as well as in isolated mononuclear blood cells (MNC) in spite of individual variations. The immunoregulatory influence of 20-50 pg rEqIFN-beta 1/ml is suf...
Önder H, Şen U, Piwczyński D, Kolenda M, Drewka M, Abacı SH, Takma Ç.This work aimed to compare the fitting performance of the random regression models applied to the different order orthogonal Legendre polynomials on the race completion speed (m/s) of Arabian racing horses. Legendre polynomial function for additive genetic, permanent environmental variances and heritability values with the L(2,2), L(2,3), L(3,2) and L(3,3) models (where L(i,j) means L(order of fit for additive genetic effects, order of fit for permanent environmental effects)) was estimated. A total of 233,491 race speed records (m/s) of Arabian horses were taken from the Jockey Club of Turkey...
Rando A, Di Gregorio P, Masina P.Horse DNA samples digested with PstI and probed with the rabbit beta 1 globin gene show three phenotypes determined by one fragment of variable length (about 5.1 or 3.3 kb). Family data demonstrate that these fragments segregate as Mendelian alleles. The frequencies of the two alleles are 0.66 for the 3.3-kb fragment and 0.34 for the 5.1-kb one. Another polymorphism has been detected with BamHI. Again three phenotypes determined by two alleles (fragments of 7.5 and 3.8 kb) have been observed. Allelic frequencies of the 7.5- and 3.8-kb fragments are 0.24 and 0.76 respectively. The two polymorph...
Salamanca-Carreño A, Parés-Casanova PM, Monroy-Ochoa NI, Vélez-Terranova M.This study examined paedomorphosis in PAH and F1 crossbreds. A sample of 99 horses was selected from 40 different breeders and consisted of three groups: stallions ( = 16), mares ( = 53), and geldings ( = 30), ranging from 10 months to 27 years in age. All horses presented a concave celloid lateral left head profile in the acquired photographic images. The hypothesis proposed in this study suggested the lateral profile of the head in juveniles was representational in the adult form due to the neonate's facial bones (part of the splanchnocranium) developing at a different rate to those of the s...
Hay AN, Potter A, Lindsay D, LeRoith T, Zhu J, Cashwell S, Witonsky S, Leeth C.Sarcocystis neurona is the predominant etiological agent of the infectious equine neurologic disease, equine protozoal myeloencephalitis (EPM), which is prevalent in the United States. A wealth of knowledge about S. neurona biology and its life cycle has accumulated over the last several decades. However, much remains unknown about the aberrant equine host's immune response to S. neurona and the relatively high prevalence of exposure to the protozoa but relatively infrequent occurrence of clinical neurologic disease. Mouse models simulating EPM are commonly used to study the disease due to num...
Ginther OJ, Pinaffi FL, Silva LA, Beg MA.Hourly blood samples were collected from 10 mares during 24 h of each of the preluteolytic, luteolytic, and postluteolytic periods. The autocorrelation function of the R program was used to detect pulse rhythmicity, and the intra-assay CV was used to locate and characterize pulses of prolactin (PRL) and a metabolite of prostaglandin F2α (PGFM). Rhythmicity of PRL and PGFM concentrations was detected in 67% and 89% of mares, respectively. Combined for the three periods (no difference among periods), the PRL pulses were 5.2±0.4 h (mean±SEM) at the base, 7.5±1.5 h between nadirs of adjacent p...
Umair M, Scheeren VFDC, Beitsma MM, Colleoni S, Galli C, Lazzari G, de Ruijter-Villani M, Stout TAE, Claes A.In vitro production (IVP) of equine embryos is increasingly popular in clinical practice but suffers from higher incidences of early embryonic loss and monozygotic twin development than transfer of in vivo derived (IVD) embryos. Early embryo development is classically characterized by two cell fate decisions: (1) first, trophectoderm (TE) cells differentiate from inner cell mass (ICM); (2) second, the ICM segregates into epiblast (EPI) and primitive endoderm (PE). This study examined the influence of embryo type (IVD versus IVP), developmental stage or speed, and culture environment (in vitro ...
Terhaar HM, Henriksen ML, Mehaffy C, Hess A, McMullen RJ.The objective of this study was to use shotgun label-free tandem mass spectrometry (LF-MS/MS) to evaluate aqueous humor (AH) from horses with uveitis (UH) compared to ophthalmologically healthy horses (HH). Methods: Twelve horses diagnosed with uveitis based on ophthalmic examination and six ophthalmologically healthy horses (postmortem) purchased for teaching purposes. Methods: All horses received a complete ophthalmic examination and physical exam. Aqueous paracentesis was performed on all horses and AH total protein concentrations were measured with nanodrop (TPn) and refractometry (TPr). A...
Hinrichs K, Provost PJ, Torello EM.A nonovulating, hormone-treated mare was used successfully as an oocyte recipient. The mare's ovarian activity was suppressed using progesterone and estrogen treatment. This treatment was stopped, then estrogen was administered for 3 d prior to the transfer. An oocyte was recovered from the follicle of a donor mare and was transferred via flank laparotomy into the recipient's oviduct. The recipient mare was inseminated 7 h before transfer. The recipient was treated with intramuscular progesterone from the day after transfer until 47 d after transfer, and then with oral altrenogest until 150 d ...
Sánchez-Guerrero MJ, Ripollés-Lobo M, Bartolomé E, Perdomo-González DI, Valera M.The Arabian horse is a generally reliable sport horse, and continues to be a remarkable endurance horse, so the relevance of the expected value of the proportion of Arabian genes (EV%AG) in horses participating in eventing could be a relevant factor. A total of 1089 horses participating in eventing (8866 records) were used. A GLM revealed that the EV%AG was significant in dressage, show jumping and cross-country. A BLUP genetic evaluation was computed with five genetic models (without the EV%AG (0) using as a covariate (A), as a fixed effect (B), with variance heterogeneity, and in genetic gro...
Henker LC, Lorenzett MP, Piva MM, Wronski JG, de Andrade DGA, Borges AS, Driemeier D, Oliveira-Filho JP, Pavarini SP.Holoprosencephaly is a central nervous system malformation, characterized by incomplete or total lack of division of prosencephalon hemispheres, which is commonly accompanied by craniofacial malformations. A 9-month-gestation aborted American Quarter Horse fetus was submitted for postmortem examination. The fetus lacked haircoat and had severe facial malformations including marked shortening/absence of the maxillary, incisive and nasal bones, bilateral anophthalmia, and pre-maxillary agenesis. The prosencephalon was small and nearly spherical, represented by a single lobe, with no visible sepa...
Albrecht BA, MacLeod JN, Daels PF.At the onset of equine chorionic gonadotrophin (eCG) secretion, eCG stimulates luteal androgen and oestrogen production. Although eCG concentrations increase exponentially from day 37 to day 60 of gestation and eCG is detectable in maternal serum until about day 120-150 of gestation, luteal androgen and oestrogen production peaks between 5 and 10 days after initial exposure to eCG and then decreases gradually. It is not clear how eCG regulates luteal androgen and oestrogen production. In the present study, the steady-state mRNA expression of 3beta-hydroxysteroid dehydrogenase (3beta-HSD), cyto...
Denyer MS, Crowther JR.Antigenic differences within equine-1 and equine-2 isolates of influenza were studied by haemagglutination inhibition tests, indirect ELISA and competition ELISA, using the same antisera. Better differentiation was obtained with the competition ELISA than with the other two tests. All three methods produced similar relationships within the equine-1 isolates but differed in their ability to differentiate the equine-2 isolates where the competition ELISA was superior and produced epidemiologically sensible results. In all three tests, post-infection ferret and horse sera were more useful in disc...
Kaps M, Curik I, Baban M.Heterogeneity of variance of growth traits over age is a common issue in estimating genetic parameters and is addressed in this study by selecting appropriate variance structure models for additive genetic and environmental variances. Modeling and partitioning those variances connected with analyzing small data sets were demonstrated on Lipizzan horses. The following traits were analyzed: withers height, chest girth, and cannon bone circumference. The measurements were taken at birth, and at approximately 6, 12, 24, and 36 mo of age of 660 Lipizzan horses born in Croatia between 1948 and 2000....
Equine lentivirus receptor-1 (ELR1) has been characterized as the specific functional receptor that mediates equine infectious anemia virus (EIAV) entrance to horse macrophages. This receptor is tumor necrosis factor receptor superfamily member 14 (TNFRSF14). The aim of this study was to investigate the occurrence of allelic variants in the coding sequence of equine TNFRSF14 gene by screening for single-nucleotide polymorphisms (SNPs) in different equine populations. Forty seven horse samples were randomly selected from a reservoir of EIAV-seropositive and seronegative samples collected from d...
