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.
Marklund S, Moller M, Sandberg K, Andersson L.The roan coat color in horses is controlled by a dominant allele that is lethal in the homozygous condition. Phenotypic similarities to some pigmentation disorders in human and mouse, combined with comparative mapping data, identified KIT, encoding the mast cell growth factor receptor, as a major candidate gene for the roan locus (Rn). Rn has previously been mapped to equine linkage group (LG) II. In this study, LGII was expanded with KIT and PDGFRA (platelet-derived growth factor receptor alpha) by use of RFLP and linkage analysis. Moreover, highly significant linkage disequilibrium between R...
Raudsepp T, Kijas J, Godard S, Guérin G, Andersson L, Chowdhary BP.The melanocortin 1 receptor (MC1R), mast/stem cell growth factor receptor (KIT), and platelet-derived growth factor receptor alpha (PDGFRA) are loci that all belong to equine linkage group 2 (LG2). Of these, KIT was fluorescent in situ hybridization (FISH) mapped to ECA3q21 with equine cDNA and heterologous porcine BAC probes, while MC1R was localized to ECA3p12 and PDGFRA to ECA3q21 with heterologous porcine BAC probes. A three-step comparison between ECA3 and donkey chromosomes was carried out. First, microdissected ECA3 painting probe was used on donkey chromosomes, which showed disruption ...
Macuda T, Timney B.Equine colour vision was measured under conditions that minimised the possibility of animals using brightness cues to make chromatic discriminations. In a two-stage study, we first obtained luminance discrimination functions for achromatic targets then tested for chromatic discrimination over a range of target luminances. Horses were trained on a two-choice discrimination task. The positive stimulus was varied in luminance and/or colour using neutral density and broad band colour filters. The negative stimulus appeared as a uniform grey. In the brightness discrimination task, the horses perfor...
MacLeay JM, Valberg SJ, Sorum SA, Sorum MD, Kassube T, Santschi EM, Mickelson JR, Geyer CJ.To determine the likely mode of inheritance and identify probable foundation horses for recurrent exertional rhabdomyolysis (RER) in Thoroughbred (TB) racehorses. Methods: 4 families of TB racehorses with a high prevalence of RER, consisting of 3 to 53 horses/family, were used to determine mode of inheritance. Sixty-two TB horses with RER and 34 control TB racehorses without RER were used to identify probable foundation horses for the RER trait. Methods: RER was diagnosed by a veterinarian and verified by detecting high serum creatine kinase activity. Pedigrees dating from 1930 for all horses ...
Kitamura HP, Yanase H, Kitamura H, Iwanaga T.Fibroblast-like (Type B) synoviocytes are cells in the synovial membrane that are responsible for production of both synovial fluid and the extracellular matrix in the synovial intima. Immunostaining of the horse synovial membrane for protein gene product (PGP) 9.5, which is a neuron-specific ubiquitin C-terminal hydrolase, demonstrated selective localization of the immunoreactivity in a synoviocyte population different from acid phosphatase-positive Type A synoviocytes. The immunoreactive cells were lined up in the synovial intima and extended dendritic processes towards the joint cavity to f...
Fouchécourt S, Dacheux F, Dacheux JL.Microsequencing after two-dimensional electrophoresis revealed a major protein, glutathione-independent prostaglandin D2 synthase (PGDS) in the anterior epididymal region fluid of the ram and stallion. In this epididymal region, PGDS was a polymorphic compound with a molecular mass around 30 kDa and a range of pI from 4 to 7. PGDS represented 15% and 8% of the total luminal proteins present in this region in the ram and stallion, respectively. The secretion of the protein as judged by in vitro biosynthesis, and the presence of its mRNA as studied by Northern blot analysis, were limited to the ...
Swiderski CE, Klei TR, Horohov DW.Quantification of cytokine mRNA using reverse transcription coupled with the polymerase chain reaction (RT-PCR) has become a corner stone of the study of cytokine regulation. Quantitative competitive RT-PCR (QCRT-PCR) is commonly accepted as a reliable method for quantifying differences in mRNA levels but is both labor- and reagent-intensive. A noncompetitive polymerase chain reaction method that utilizes cytokine-specific, plasmid-derived, standard curves was developed for the quantification of equine cytokine mRNA. The assay can be performed on minute samples of cellular material, utilizes s...
Feh C.A study of a herd of Camargue horses Equus caballus, showed that while the majority of high-ranking stallions held single-male harems, some sons of low-ranking mares, being low ranking themselves, formed alliances that could last a lifetime. The two stallions were each other's closest associate and preferential grooming partner. Alliances were based on coalitions in which either both partners confronted an intruder synchronously or the dominant of the pair tended the female(s) while the subordinate simultaneously displayed towards the rival. Alliance partners were of similar age but were not m...
Guignot F, Ottogalli M, Yvon JM, Magistrini M.The objective of this study was to perform intracytoplasmic sperm injection (ICSI) on in vitro matured equine oocytes and to improve in vitro embryonic development on Vero cells after activation of the microinjected oocytes with calcium ionophore. After maturation (23 or 40 h, 38.5 degrees C, 5% CO2), the cumulus-oocyte complexes were denuded, centrifuged and all oocytes exhibiting the first polar body were microinjected. ICSI was performed using fresh semen from three fertile stallions. Microinjected oocytes were activated with calcium ionophore A23187 (10 min, 10 microM) and cultured individ...
Gallagher PC, Lear TL, Coogle LD, Bailey E.BLAST searches of 61 equine microsatellite sequences revealed two related families of retroposons. The first family included seven markers, all of which showed significant homology to the Equine Repetitive Element-1 (ERE-1) Short Interspersed Nucleotide Element (SINE) sequence. Length of homology ranged from 76 to 171 bases with identities to the ERE-1 consensus sequence ranging from 71% to 83%. The second family referred to as Equine Repetitive Element-2 (ERE-2) has a consensus sequence that showed homology to ERE-1 over approximately 60 bases. These 60 bases comprised subunit I. Sequence com...
Breidenbach A, Fuhrmann H, Busche R, Sallmann HP.A simple and sensitive method for direct and continuous monitoring of free fatty acid (FFA) release, by measuring the pH-sensitive change in relative fluorescence intensity of seminaphthofluorescein (SNAFL-1) is described. The method was designed to use a small number of adipocytes isolated from fat pads of rats and biopsy specimens of horses for the detection of decreasing pH in fat cell suspensions caused by released FFA into the incubation medium. Species specific differences of lipolysis were demonstrated when adipocytes of rats and horses are incubated with stimulators or inhibitors of li...
Kasapi MA, Gosline JM.Small-scale components of the equine hoof wall were tested to determine their mechanical roles in the morphological hierarchy. Macroscale tensile tests conducted on samples of the inner wall tubules and intertubular material showed a sixfold difference in mean initial stiffnesses (0.47 and 0.08 GPa, respectively), indicating that the inner wall tubules stiffen the wall along its longitudinal axis. The similarity in material properties of tubule and intertubular samples from the mid-wall suggests that tubules in this region offer only minor reinforcement along the longitudinal axis. Microscale ...
Ogilvie GK.The importance of paraneoplastic syndromes is often underestimated in the horse. Clinically, paraneoplastic syndromes can cause greater morbidity than the actual physical presence of the malignant tumor. The appearance may be the first sign of a malignancy and may be so severe that appropriate therapy for the underlying cancer is not initiated. This article reviews some of the most common paraneoplastic syndromes that are likely to occur in the horse.
McCue PM.Granulosa cell tumors of the ovary and SCC and melanoma of the external genitalia are the most common neoplasms in the mare. Tumors of the tubular reproductive tract and the mammary gland are rare.
Goodrich L, Gerber H, Marti E, Antczak DF.Sarcoids, the most common tumor of the horse, are fibroblastic, wart-like skin lesions that show variable manifestations. They are often invasive and recurrent, although they do not fulfill all criteria of malignancy. Due to their anatomic location, these tumors can sometimes cause loss of use of the horse. There is very strong evidence that sarcoids are caused by viruses closely related or identical to bovine papilloma viruses, and genetic studies have shown associations between genes in or near the equine major histocompatibility complex (MHC) and susceptibility to sarcoid. Several types of ...
Jeffcott LB, Henson FM.The importance of osteochondrosis (dyschondroplasia) to the horse industry has been well documented since it was first recorded 50 years ago. The condition is known to be multifactorial in origin, arising from focal failure of endochondral ossification at predilection sites in articular/epiphyseal growth cartilage, but specific information on its aetiopathogenesis is sparse. This paper reviews the current knowledge of growth cartilage metabolism and the process of normal endochondral ossification in the horse. It highlights the localization of various protein products of chondrocytes and the d...
Oakenfull EA, Ryder OA.Variation in the control region and the 12S rRNA gene of all surviving mitochondrial lineages of Przewalski's horse was investigated. Variation is low despite the present day population being descended from 13 individuals probably representing animals from three different regions of its range. Phylogenetic comparison of these sequences, with sequences for the domestic horse, does not resolve the ancestral status of either horse.
Hernández-Vidal G, Jeffcott LB, Davies ME.A polyclonal antiserum raised in sheep against human cathepsin B was tested for specificity and cross-reactivity with the horse homologue by SDS-PAGE and Western blotting, prior to being used for immunolocalization of the enzyme in equine articular cartilage. In Western blots, the antiserum recognized the 30 kDa single chain and 25 kDa heavy chain of the mature enzyme in purified bovine cathepsin B, and corresponding bands at 32 and 27 kDa in equine chondrocyte and fibroblast lysates. This antiserum was then used to compare the expression and distribution of cathepsin B in normal and dyschondr...
Glazko VI, Oblap RV, Iasinetskaia NA, Kushnir AN.Analysis of albumin, transferrin, receptor to vitamin D, esterase, alpha 1-beta glycoprotein polymorphisms in Przhewalski's horse, Orlov's and Russian trotters, Guzul and Yakutian domestic horse breeds was carried out. The data about similarity of intraspecies differentiation of Przewalski's horse's populations and interbreed distinctions were obtained. Locus-specific particularities of genetic structures of investigated animal groups were revealed.
Kotsiubenko AA.The indexes of standardized deviations by the measured characters (probits) are expedient to be used for distribution of horses according to classes M-, M0 and M+, under these conditions one can select individuals M0 for to rise their capacity for work and expressivity of the type of breed.
Overesch G, Wagner B, Radbruch A, Leibold W.The number of immunoglobulin G constant heavy chain genes (cgamma genes) varies broadly among mammalian species, reflecting structural and functional differences between expressed immunoglobulin G (IgG) isotypes and allotypes. Up to now equine IgG isotypes have been defined only at the biochemical and serological level. It is still not clear how many IgG isotypes exist in horses and whether there are any allotypes. Here, we describe the isolation and characterisation of equine cgamma genes. An equine genomic lambda phage library was screened with a human cgamma4 probe. Cross-hybridising equine...
Smith DJ, Iqbal J, Purewal A, Hamblin AS, Edington N.IL-2 and equine chorionic gonadotrophin (eCG) initiated reactivation of equid herpesvirus-1 (EHV-1) from venous lymphocytes at a frequency of 1/10(-5). Indirect immunofluorescence showed that > 80% of virus-positive leukocytes were CD5+/CD8+ with the remaining 20% being CD5+/CD8-/CD4-. Cocultivation demonstrated that the reactivated virus was infectious. In addition, virus was reactivated in vitro from leukocytes of > 70% of horses by the mitogens phytohaemagglutinin (PHA) and pokeweed mitogen (PWM). Transfer of supernatants showed that IL-2 and eCG acted indirectly by causing the releas...
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 +/-...
Song L, Porter DG, Coomber BL.Matrix metalloproteinases (MMPs) and tissue inhibitors of MMPs (TIMPs) play very important roles in extracellular matrix (ECM) remodeling in ovarian follicle growth and ovulation. Equine follicles are embedded in cortex that is at the center of the ovary, and they must expand/emigrate to the fossa, the only site in the ovary for ovulation. Therefore, equine ovarian stromal cells (EOSC) are probably involved in ECM remodeling during follicle growth. This study examined whether cultured EOSC synthesize gelatinases and TIMPs, molecules essential for ECM remodeling in other systems. Results showed...
Faghihzadeh Gorji F, Sadr S, Sharifiyazdi H, Borji H.Parasitic infections pose significant threats to humans' and animals' well-being worldwide. Among these parasites, Halicephalobus spp., a genus of nematodes, has gained attention due to its ability to cause severe infections in various animal species, including horses. Objective: This study aimed to determine the prevalence of Halicephalobus spp., specifically focusing on Halicephalobus gingivalis in horses. Methods: In July 2022, a cross-sectional study was conducted in northern Iran to determine the prevalence of Halicephalobus spp. Using standard coprological techniques, 141 fecal samples f...
Ardans AA, Trommershausen-Smith A, Osburn BI, Mayhew IG, Trees C, Park MI, Sawyer M, Stabenfeldt GH.Immunotherapy was attempted in 2 Arabian foals with combined immunodeficiency. One foal was given a transplant of bone marrow from a selected full sibling, and 1 foal was given a fetal thymus transplant. Both foals died. Genetic evidence was obtained for survival of the transplanted tissues in both cases; however, a graft versus host reaction developed in the foal given the fetal thymus transplant.
Smyth GB.An abnormal cryptorchid testicle removed from the abdominal cavity of a 4 year old Thoroughbred stallion is described. The abnormal organ conforms to the requirements of Willis (1960) for a teratoma. The difference between these tumours in man and horses is discussed.
Li L, Maboni G, Lack A, Gomez DE.Nontuberculous mycobacteria (NTM) infections are increasing in human and veterinary medicine. Although horses were initially thought to be resistant to NTM infection, reports of horses suffering from gastrointestinal, respiratory, and reproductive diseases associated with NTM have increased in the last few decades. The aim of this literature review is to summarize the mycobacteria species found in horses, describe clinical manifestations, diagnostic and treatment approaches, and public health concerns of NTM infection in horses. Clinical manifestations of NTM in horses include pulmonary diseas...
Barban PS, Minaeva VM, Pantiukhina AN, Startseva MG.A comparative study was made of the serological properties and virus-neutralizing activity of antiencephalitis gamma-globulin and Fab-fragments isolated from it by gel-filtration. Horse immunoglobulins against the autumno-summer tick-borne encephalitis virus could be disintegrated with the aid of papaine to monovalent Fab-fragments which (according to the complement fixation reaction, the test of suppression of the complement fixation, and the HAIT) retained the serological activity whose level was compared with that of the serological activity of gamma-globulin. Fab-fragments possessed a mark...
Charles LN.A 3-year-old Quarter Horse mare presented with an approximate 1-month history of progressive weight loss, anorexia and lethargy that abruptly worsened 48 h before death. Post-mortem examination revealed free flocculent fluid and a large mass within the ventral abdomen that dorsally displaced the caecum and large intestine. An ovarian teratocarcinoma with metastasis to regional lymph nodes was diagnosed histologically. Although benign teratomas are the second most common ovarian neoplasm in equids, reports of malignant teratomas in horses are rare. This report documents an unusual presentation...
McIlwraith CW, Owen RA, Basrur PK.Cytogenetic and histological studies were carried out on an intersex horse which was diagnosed clinically as a cryptorchid. Surgery confirmed the horse to be a bilateral abdominal cryptorchid and histological examination revealed ovarian tissue associated with the left epididymis. Chromosome analysis of cultured cells from testicular tissue, ovarian tissue and skin revealed 64-XX and 64-XY make-up, the left gonad containing a greater preponderance of XX cells over XY cells. The external characteristics and behaviour of the horse were indistinguishable from that of a "routine" cryptorchid. Othe...
Lagounova M, MacNicol JL, Weese JS, Pearson W.Synbiotics are often provided to horses receiving antibiotics to protect against microbiome disturbances, despite a lack of evidence for efficacy. The purpose of this study was to evaluate the effect of a synbiotic product in horses receiving antibiotics. Sixteen actively racing Standardbred horses were randomly allocated (four-way crossover) to one of four groups: antibiotics (10 days; AB), synbiotics (28 days; PROBIOPlusTM; PBP), PBP + AB, or Control. The fecal microbiome was investigated using 16S rRNA sequencing, and fecal dry matter (DM; %), pH, and scores (FS; 0-9) were measured. Data we...
Talluri TR, Kumaresan A, Paul N, Elango K, Raval K, Nag P, Legha RA, Pal Y.Despite the vital role of seminal plasma (SP) in maintaining sperm function and aiding gamete interaction in many species, SP is usually removed before cryopreservation of stallion sperm to improve cryosurvival of sperm. The present study assessed if the vital sperm functional parameters of genetically superior stallions producing poor quality semen can be enhanced by the supplementation of heterologous SP from the stallion producing high quality semen. Spermatozoa from poor quality semen producing stallions were divided into three aliquots: two aliquots were supplemented with SP obtained from...
Murakami M, Shimonishi Y, Hobo S, Niwa H, Ito H.We describe here the first isolation of Actinobacillus genomospecies 2 in Japan. The isolate was found in a septicemic foal and characterized by phenotypic and genetic analyses, with the latter consisting of 16S rDNA nucleotide sequence analysis plus multilocus sequence analysis using three housekeeping genes, recN, rpoA and thdF, that have been proposed for use as a genomic tool in place of DNA-DNA hybridization.
Swiderski CE, Sobol G, Lunn DP, Horohov DW.Equine interleukin-6 (IL-6) cDNA was amplified from mitogen-stimulated equine peripheral blood mononuclear cells (PBMC) using consensus sequence primers. The 727bp amplified cDNA contains the entire coding region for equine IL-6 and includes 118 bases in the 3' non-translated region. The coding sequence translates to a protein of 208 amino acids with a predicted 28 amino acid leader sequence. The mature protein of 180 amino acids has a predicted molecular mass of 20471Da without post-translational modifications. The amino acid sequence of equine IL-6 displays between 46 and 84% similarity to o...
Dawson FL.Mares rarely ovulate in winter; ovulation is induced by increase in daylight length. Ova accumulate in the oviducts of unserved mares. During pregnancy, corpora lutea accumulate; all regress together at mid pregnancy. Plasma progesterone levels rise and oestrogen levels fall towards the end of pregnancy. Methods are available for early termination of pregnancy and for induction of parturition. Pregnancy can be diagnosed efficiently by rectal examination, and by immunological assay of pregnant mare serum gonadotrophin. Service at the foal heat is associated with an increased prevalence of early...
Seybert DW, Moffat K, Gibson QH, Chang CK.Horse globin has been recombined with 2,4-dimethyldeuteroheme and 2,4-dibromodeuteroheme to yield the corresponding reconstituted hemoglobins, and the ligand binding reactions of these reconstituted hemoglobins have been examined in detail. Both hemoglobins exhibit relatively high n values, but 2,4-dimethyldeuterohemoglobin displays a consistently higher oxygen affinity than native hemoglobin, whereas the oxygen affinity of 2,4-dibromodeuterohemoglobin is consistently lower than that of native hemoglobin. The rate constants l’, and 1’4 for the binding of the first and fourth molecules of C...
Jirgensons B, de Haas GH.Conformation of porcine, bovine, and equine pancreatic phospholipases A2 (EC 3.1.1.4) and their zymogens was studied by the circular dichroism (CD) probe in the far and near ultraviolet spectral zones.
All these phospholipases and their zymogens displayed CD curves suggesting the presence of moderate amounts of α-helical conformation. However, on the basis of known primary structure and recent X-ray structural analysis of prophospholipase A2 crystals (Drenth, J., Enzing, C.M., Kalk, K.H. and Vessies, J.C.A. (1976) Nature 264, 373–377), it has to be concluded that the positive CD band cen...
Zabek T, Bugno M, Klukowska-Rötzler J, Uhlmann B, Gerber V, Słota E.The research article focuses on identifying the locations of five horse genes related to the development of the skeletal and nervous systems. Sequence Analysis and Bacterial Artificial Chromosome (BAC) Library […]
Sosnowski J, Lechniak D, Brzozowska M, Switoński M.This paper presents the results of recovering horse oocytes by aspiration and maturation in vitro for 24, 30, 36 or 42 h. A total of 522 oocytes were recovered from 221 ovaries (2.4 per ovary) and 271 oocytes (51.9%) were selected for in vitro maturation (IVM). Oocytes were cultured in maturation medium (TCM 199 + estrus cow serum [ECS] + follicle-stimulating hormone [FSH] + 17 beta-estradiol + gentamycin). One hundred and seventy oocytes were cytogenetically analysed (68.3%). Cytogenetic analysis showed that the stage of maturation (first telophase-TI or second metaphase-MII) for fertilizatio...
Li 李靖 J, Liu B, Yu F, Liu T, Peng Y, Fu Y.Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive inheritable disorder described in the Quarter Horses and related breeds. In this case report, a 2-year-old Quarter Horse filly was diagnosed with HERDA based on clinical findings and genetic testing. The observed clinical signs were stretchy, loose and thin skin, and open wounds on the upper body. Skin biopsy results were consistent with the common findings previously described in the literature. This is the first HERDA case report in China (and in Asia). Genetic testing protocols should be implemented for breeding fa...