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.
Priester WA, Glass AG, Waggoner NS.A mass survey of the distribution of congenital defects in various types of livestock was made possible by the processing by the Veterinary Medical Data Program (VMPD) of standard observations collected on 137, 717 patients seen at veterinary college clinics between Mar. 1964 and Jan. 1969. A total of 6455 animals with 1 or more congenital defects was found. The data were analysed according to species, institution and organ system. Pigs had the highest proportion of congenital defects, cats the lowest. Over all, the systems most frequently involved were the musculo-skeletal and urogenital. The...
Yamaguchi M, Miyazawa Y, Sekine T.Myosin was prepared from smooth muscle of horse esophagus in good yield
(about 15 ° mg/Ioo g tissue) and was designated myosin S. Its properties were compared
with those of myosin A from skeletal muscle.
The ratio of the absorption of myosin S at 280 nm to that at 26o nm was about
1.8, and the amount of contaminating phosphorus was only o.91 g/io 5 g of myosin S,
indicating that the latter is free of nucleic acid. The purity of this protein was examined
by ultracentrifugation, gel filtration in the presence of 0.5 M KC1 and 6 M urea and
chromatography on DEAE-cellulose columns. These e...
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...
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...
Lewczuk D, Bereznowski A, Hecold M, Frąszczak M, Ruść A, Korwin-Kossakowska A, Szyda J, Kamiński S.Horses lose potential opportunities because of health problems. Available breeding strategies are not effective enough, probably also because of the different definition used and its genetic usefulness. The aim of the study was to compare the genetic background estimated by the genome-wide association study (GWAS) for osteochondrosis using two different scaling osteochondrosis (OC)/healthy and osteochondrosis dissecans (OCD)/healthy systems for evaluating the disease status of investigated fetlock joints. Two hundred one Warmblood horses trained for performance tests (87 stallions and 114 mare...
Liu L, Castillo-Olivares J, Davis-Poynter NJ, Baule C, Xia H, Belák S.Samples from horses experimentally infected with the "large plaque variant (LP3A+)" of equine arteritis virus were analysed. These included 182 nasal swabs collected from day 1 to 14 post-infection (p.i.), and 21 virus isolates obtained from white blood cells of animals that showed a prolonged viraemia between days 30 to 72 p.i. In order to determine the genetic stability of the virus and particularly to characterise the genetic variants found during the prolonged viraemia, partial sequences of open reading frame 5 (ORF5) encoding glycoprotein 5 (GP5) were generated. Viruses with amino acid su...
Sander J, Terhardt M, Janzen N.In horses, congenital defects of energy production from long-chain fatty acids have not been described so far. In contrast, inhibition of fatty acid degradation caused by the toxins hypoglycin A and methylenecyclopropylglycine from various maple species are observed frequently. These non-proteinogenic aminoacids are passed on placentally to fetuses or with collostrum or milk to newborn foals. Nevertheless, newborn foals become very rarely symptomatic. Vertical transmission apparently is not sufficient to induce clinical disease without a particular genetic constellation being present. One of t...
Munk Z, Dusek J.The fertility problems were studied in the herd of the English Thoroughbred horse on the Napajedla stud farm. Breeding records for the period from 1880 to 1972 were used as the starting data. The survey comprised 32 stallions. The relationship between fertility and the number of matings was calculated by the chi 2 quantity. The calculated values are highly variable. However, it is generally seen in most of the stallions that the number of matings per heat (i. e. one or several matings) had no significant influence on the pregnancy of mares and on the fertility values of the stallions. A higher...
Stewart F, Leigh SE, Thomson JA.Complementary (c)DNA libraries have been made from horse pituitary gland and endometrial cup tissues with the aim of isolating the genes for the horse gonadotrophins (FSH, LH and CG) and growth hormone (GH). Southern (DNA) and Northern (RNA) blotting techniques were used to demonstrate that several heterologous (human and ovine) cDNA probes would be adequate for isolating the horse genes. A human cDNA probe was then used to isolate the horse gonadotrophin alpha-subunit cDNA from the pituitary and endometrial cup libraries. The nucleotide sequences from both tissue sources were identical, there...
Thway TM, Wolfe MW.Primates and equids are the only species known to express the placental glycoprotein hormone, chorionic gonadotropin (CG), a heterodimeric glycoprotein composed of an alpha subunit linked to a hormone-specific beta subunit. The regulatory mechanisms involved in the induction of equine glycoprotein alpha subunit gene expression have not been identified. Epidermal growth factor (EGF) receptor is known to transduce signals that alter a number of different cellular functions (cell proliferation, differentiation, hormone secretion, and gene regulation). In the present study, we investigated the reg...
Mang L, Li JL, Shi YF.Mitochondrial DNA D-Loop varied region 400 bp sequence variations in 4 Chinese Mongolian horses and 4 External Thoroughbred horses were analyzed in this experiment. The results showed that the average nucleotide mutational rate of mtDNA D-Loop varied region in 4 Chinese Mongolian horses was 3.69%, while External Thoroughbred horses were 4.00%. Three types of mutations including transition, transversion and deletion were all found in the investigated mtDNA D-Loop regions, of which transition was the most frequent. Nucleotide mutational loci were abundant, length mutations were found and great d...
Anna M, Łukasz M, Adam O, Chełmońska-Soyta A.The aim of the study was to investigate the mechanisms leading to immunization through the use of a multicomponent bacterial immunomodulator and to find out the relationship between the TLR 4 receptor with selected parameters of innate immunity and to acquire immunity. The study was conducted on 18 Polish Pony Horses foals divided into two study groups: control (n = 9) and experimental (n = 9). Foals from the experimental group received intramuscular duplicate injection of 5 ml of multi-component bacterial immunomodular at 35 and 40 days of age. RNA isolated from venous blood was use...
Irvine CH, Turner JE, Alexander SL, Shand N, van Noordt S.In mares, dioestrous FSH profiles based on once-a-day sampling are variable; however, the pulsatility of plasma FSH, which has been suggested by limited windows of intensive sampling, may contribute to this variability. Jugular blood from six mares was sampled at 4 h intervals throughout an ovulatory cycle to determine cyclic FSH and LH patterns more accurately and to measure gonadotrophin pulse frequency during dioestrus. Synchronous pulses of FSH and LH occurred regularly in all mares between day 4 and day 12 (ovulation = day 0) with a mean (+/- SEM) frequency of 1.9 +/- 0.1 (FSH) or 1.6 +/-...
Haider W, Brehm W, Keller H.An apparently unilateral cryptorchid stallion was referred to the clinic with a history of colic. In the course of laparotomy an ileus caused by strangulation of the small intestine was found and the horse was euthanized because of poor prognosis. During autopsy strictures and ectasia of the jejunum were found as well as hermaphroditism along with male phenotype. The frequency of cryptorchidism in the case of intersexuality is discussed.
