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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.
Crystal structures of wild-type and mutated cyclophilin B that causes hyperelastosis cutis in the American quarter horse. Hyperelastosis cutis is an inherited autosomal recessive connective tissue disorder. Affected horses are characterized by hyperextensible skin, scarring, and severe lesions along the back. The disorder is caused by a mutation in cyclophilin B. Results: The crystal structures of both wild-type and mutated (Gly6->Arg) horse cyclophilin B are presented. The mutation neither affects the overall fold of the enzyme nor impairs the catalytic site structure. Instead, it locally rearranges the flexible N-terminal end of the polypeptide chain and also makes it more rigid. Conclusions: Interactions of th...
Equine cytochrome P450 2B6–genomic identification, expression and functional characterization with ketamine. Ketamine is an anesthetic and analgesic regularly used in veterinary patients. As ketamine is almost always administered in combination with other drugs, interactions between ketamine and other drugs bear the risk of either adverse effects or diminished efficacy. Since cytochrome P450 enzymes (CYPs) play a pivotal role in the phase I metabolism of the majority of all marketed drugs, drug-drug interactions often occur at the active site of these enzymes. CYPs have been thoroughly examined in humans and laboratory animals, but little is known about equine CYPs. The characterization of equine CYP...
Development of an equine-tropic replication-competent lentivirus assay for equine infectious anemia virus-based lentiviral vectors. The release of lentiviral vectors for clinical use requires the testing of vector material, production cells, and, if applicable, ex vivo-transduced cells for the presence of replication-competent lentivirus (RCL). Vectors derived from the nonprimate lentivirus equine infectious anemia virus (EIAV) have been directly administered to patients in several clinical trials, with no toxicity observed to date. Because EIAV does not replicate in human cells, and because putative RCLs derived from vector components within human vector production cells would most likely be human cell-tropic, we previous...
Evaluation of growth models for follicle development and ovulation in Lusitano mares. Several growth models are commonly used in the biological sciences, to model the follicle growth occurring in the estrous cycle. The aim of this project was to find the model that best fit the follicular size growth data for Lusitano mares. Retrospective data collected from reproduction book records of n=84 mares and n=124 cycles was used to find the series to be fitted to the models. The exponential, Gompertz, logistic, von Bertalanffy, Richards and Weibull models were used, and the most parsimonious and best fit was achieved with the logistic model (r(2)=0.999). The logistic model fits the L...
Sex-dependent insulin like growth factor-1 expression in preattachment equine embryos. An adjustment of sex ratio of offspring to the conditions present at conception is seen in many mammals including horses. This depends on preferential survival of male embryos under conditions of high energy intake. In several species, growth factors including insulin like growth factor (IGF)-1 have been shown to promote embryonic development by decreasing apoptosis and increasing cell proliferation. We hypothesized that sex-related differences in IGF-1 expression in equine embryos during the phase of maternal recognition of pregnancy might exist and thus contribute to preferential survival of...
Explaining spatial heterogeneity in population dynamics and genetics from spatial variation in resources for a large herbivore. Fine-scale spatial variation in genetic relatedness and inbreeding occur across continuous distributions of several populations of vertebrates; however, the basis of observed variation is often left untested. Here we test the hypothesis that prior observations of spatial patterns in genetics for an island population of feral horses (Sable Island, Canada) were the result of spatial variation in population dynamics, itself based in spatial heterogeneity in underlying habitat quality. In order to assess how genetic and population structuring related to habitat, we used hierarchical cluster analys...
Mechanical and morphological properties of trabecular bone samples obtained from third metacarpal bones of cadavers of horses with a bone fragility syndrome and horses unaffected by that syndrome. To determine morphological and mechanical properties of trabecular bone of horses with a bone fragility syndrome (BFS; including silicate-associated osteoporosis). Methods: Cylindrical trabecular bone samples from the distal aspects of cadaveric third metacarpal bones of 39 horses (19 horses with a BFS [BFS bone samples] and 20 horses without a BFS [control bone samples]). Methods: Bone samples were imaged via micro-CT for determination of bone volume fraction; apparent and mean mineralized bone densities; and trabecular number, thickness, and separation. Bone samples were compressed to failur...
Genome-wide association study of insect bite hypersensitivity in two horse populations in the Netherlands. Insect bite hypersensitivity is a common allergic disease in horse populations worldwide. Insect bite hypersensitivity is affected by both environmental and genetic factors. However, little is known about genes contributing to the genetic variance associated with insect bite hypersensitivity. Therefore, the aim of our study was to identify and quantify genomic associations with insect bite hypersensitivity in Shetland pony mares and Icelandic horses in the Netherlands. Methods: Data on 200 Shetland pony mares and 146 Icelandic horses were collected according to a matched case-control design. C...
Comparative analysis of ORF5 nucleotide sequences and amino acid sequences of the GP5 protein of equine arteritis virus (EAV) detected in the semen of stallions from Eastern Poland. The purpose of this study was to conduct a comparative analysis of the ORF5 gene fragment nucleotide sequences and the GP5 protein amino acid sequences formed on this matrix, for the equine arteritis virus (EAV) strains isolated from the semen of infected stallions from Eastern Poland. The study covered 41 stallions whose blood serum tested positive for antigens specific to the EAV. The presence of EAV genetic material was shown in material from 5 horses, in one of which permanent presence of viral RNA was detected over the entire 4-year study period (the material was sampled four times at yea...
Expression of aquaporin water channels in equine endometrium is differentially regulated during the oestrous cycle and early pregnancy. The expression of 12 different aquaporin subtypes in equine endometrium was examined at the mRNA and protein level. Endometrial samples were obtained during anoestrus, oestrus, 8, and 14 days after ovulation in non-pregnant mares, and 14 days after ovulation in pregnant mares. Quantitative PCR revealed a time-dependent pattern for all aquaporin subtypes examined except for AQP10 and 12. AQP3, 5 and 7 showed highest mRNA abundance 8 days after ovulation, while AQP0 and 2 were most abundant at Day 14 of the cycle in non-pregnant mares. At 14 days of pregnancy, AQP1, 4, 8, 9 and 11 displayed ...
Development and evaluation of a SYBR Green real-time RT-PCR assay for evaluation of cytokine gene expression in horse. Cytokine secretion is one of the main mechanisms by which the immune system is regulated in response to pathogens. Therefore, the measurement of cytokine expression is fundamental to characterizing the immune response to infections. Real-time quantitative reverse transcriptase-polymerase chain reaction (RT-qPCR) is widely used to measure cytokine mRNA levels, but assay conditions should be properly evaluated before analyzing important equine infections through relative quantification of gene expression. The aim of this study was to develop and evaluate a set of RT-qPCR assays for a panel of th...
Identification of a novel equine infectious anemia virus field strain isolated from feral horses in southern Japan. Although equine infectious anemia (EIA) was described more than 150 years ago, complete genomic sequences have only been obtained from two field strains of EIA virus (EIAV), EIAV(Wyoming) and EIAV(Liaoning). In 2011, EIA was detected within the distinctive feral Misaki horse population that inhabits the Toi-Cape area of southern Japan. Complete proviral sequences comprising a novel field strain were amplified directly from peripheral blood of one of these EIAV-infected horses and characterized by nucleotide sequencing. The complete provirus of Miyazaki2011-A strain is 8208 bp in length with an...
Epidemiology, chronobiology and taxonomic updates of Rhinoestrus spp. infestation in horses of Sardinia Isle, Western Mediterranean (Italy). From January to December 2008, 265 horses slaughtered in Sardinia (Italy) were examined for the presence of Rhinoestrus spp. (Diptera: Oestridae) through the examination of the nasal cavities and pharynges. Larvae were detected in 49% of the horses, with a mean intensity of infestation of 16.09 and abundance of 7.95. A total of 2108 larvae were collected, 66% of which were classified in first instar (L1), 22% in second instar (L2) and 12% in third instar (L3). The most frequent localization of larvae was the ethmoid, while the less one the larynx. According to the dynamics of Rhinoestrus larva...
Tenogenic differentiation of equine mesenchymal progenitor cells under indirect co-culture. Adult bone marrow mesenchymal stem cells (BM-MSCs) are a potential cell source for tendon repair in direct cell therapy and tissue engineering investigations. The purpose of this study was to evaluate the tenogenic induction of undifferentiated BM-MSCs under indirect co-culture technique with trimmed native tendon tissue. Since the horse represents a preferred species to study tendon regenerative strategies, this work was conducted on equine BM-MSCs. Methods: Equine BM-MSCs were co-cultured in a transwell system with tendon tissue fragments. The BM-MSC tenogenic differentiation was evaluated b...
Glucocorticoid overexposure in neonatal life alters pancreatic beta-cell function in newborn foals. Studies in humans and animals have linked abnormal programming of adult tissue function to excess glucocorticoids during perinatal development. The current study investigated the hypothesis that physiological variations in glucocorticoid concentrations during early neonatal life of the foal alter the secretory responses of the pancreatic β cells 2 and 12 wk after treatment. Spontaneously delivered foals received either saline or long-acting ACTH for 5 d from 1 d after birth to maintain an endogenous rise in cortisol concentrations. Starting at d 10, pancreatic β cell function was studied usi...
Analysis of stomach bacterial communities in Australian feral horses. We investigated the community structure of bacteria that populate the stomach of the Brumby, a breed of feral horses from the Australian outback. Using a 16S rRNA gene clone library, we identified 155 clones that were assigned to 26 OTUs based on a 99.0 % sequence identity cutoff. Two OTUs represented 73.5 % of clones, while 18 OTUs were each assigned only a single clone. Four major bacterial types were identified in the Brumby stomach: Lactobacillaceae, Streptococcaceae, Veillonellaceae and Pasteurellaceae. The first three groups, which represented 98.1 % of the Brumby stomach library clones,...
A major outbreak of Streptococcus equi subsp. zooepidemicus infections in free-range chickens is linked to horses. Infections of poultry due to Streptococcus equi subsp. zooepidemicus have been rare during the past decades and dissimilarities have been reported as to symptoms and lesions; likewise, the source of serious outbreaks has remained speculative. An outbreak affecting 11,000 free-range chickens at the age of 47 wk is reported. The outbreak manifested itself as acute at the onset and was followed by a chronic stage, resulting in some 80% mortality within 21 wk. Small-colony variants (SCVs) of S. equi subsp. zooepidemicus associated with the chronic phase are reported for the first time, and it is d...
64, XX, SRY-negative, testicular DSD syndrome in a Lusitano horse. Here is reported a disorder of sex development found in the Portuguese Lusitano horse breed. The complex genital phenotype included mammary glands, abdominal testes without epididymis, connected through oviducts to pelvic hypoplastic uterine horns and fused vulvar labia majora from which protruded ventrally a penis-like structure. This structure was presented in a reversed position, the urethral opening placed dorsally in the glans. However, it was functional both for micturition and erection. The horse exhibited female micturition posture and aggressive male-like behaviour, including flehmen,...
Individual identification of racehorses from urine samples using a 26-plex single-nucleotide polymorphism assay. To construct a system for identifying individual horses from urine samples that are submitted for postracing doping tests, we developed a genotyping assay based on 26-plex single-nucleotide polymorphisms (SNPs). DNA was isolated from urine using a commercially available DNA/RNA extraction kit, and SNP genotyping was achieved with a SNaPshot(™) technique. DNA profiles including 26 SNPs were acquired from urine samples and blood/hair samples. Within the studied Thoroughbred population, the 26-plex assay showed a probability of identity of 5.80 × 10(-11). Compared to the conventional short tan...
Microsatellite variation in the equine MHC. Genes within the major histocompatibility complex (MHC) encode proteins involved in innate and adaptive immune responses. Genetic variation in this region can influence the immune response of an individual animal to challenges from a variety of pathogens; however, a complete documentation of genetic variation in the MHC is lacking for most domestic animals, including horses. To provide additional genetic markers for study of the horse MHC, or ELA (equine lymphocyte antigen), we identified 37 polymorphic microsatellite repeats in ELA and used these variations separately and together with publis...
EcPV2 DNA in equine papillomas and in situ and invasive squamous cell carcinomas supports papillomavirus etiology. Equine penile papillomas, in situ carcinomas, and invasive carcinomas are hypothesized to belong to a continuum of papillomavirus-induced diseases. The former ones clinically present as small grey papules, while the latter 2 lesions are more hyperplasic or alternatively ulcerated. To test the hypothesis that these lesions are papillomavirus-induced, samples of 24 horses with characteristic clinical and histologic findings of penile papillomas or in situ or invasive squamous cell carcinomas were collected. As controls, 11 horses with various lesions--namely, Balanoposthitis (6 cases), melanoma ...
Expression of inhibin/activin subunits in the equine uteri during the early pregnancy. The establishment of equine pregnancy is a unique and long process during which a series of physical and possibly biochemical interactions are required between the conceptus and uterus. In this study, we investigated the expression pattern of inhibin/activin subunits in the uterus during early pregnancy. The uteri from four adult mares on cyclic day 13 or pregnancy day 25 were obtained. Immunohistochemical experiments suggested that inhibin/activin subunits were immunolocalized in the luminal and glandular epithelium on pregnancy day 25. In addition, the inhibin α and inhibin/activin βB subu...
Conjugal transfer of a virulence plasmid in the opportunistic intracellular actinomycete Rhodococcus equi. Rhodococcus equi is a facultative intracellular, Gram-positive, soilborne actinomycete which can cause severe pyogranulomatous pneumonia with abscessation in young horses (foals) and in immunocompromised people, such as persons with AIDS. All strains of R. equi isolated from foals and approximately a third isolated from humans contain a large, ~81-kb plasmid which is essential for the intramacrophage growth of the organism and for virulence in foals and murine in vivo model systems. We found that the entire virulence plasmid could be transferred from plasmid-containing strains of R. equi (dono...
Active hyaluronidase 2 expression in the granulation tissue formed in the healing process of equine superficial digital flexor tendonitis. Upregulation of hyaluronidase 2 (HYAL2), one of somatic hyaluronidase (HAase), was demonstrated in granulation tissue during the healing of equine superficial digital flexor tendon injuries. The activity of HAase was assessed by hyaluronan (HA)-containing gel zymography and in situ zymography using frozen sections obtained from normal and injured tendon tissues. Elevated HAase activity was identified in the extract from the tendinopathic tissues, with lower levels of the activity in normal tendons. In situ zymography using fluorescently-labeled HA demonstrated HAase activity in the granulation...
Integration of genomic information into sport horse breeding programs for optimization of accuracy of selection. Reliable selection criteria are required for young riding horses to increase genetic gain by increasing accuracy of selection and decreasing generation intervals. In this study, selection strategies incorporating genomic breeding values (GEBVs) were evaluated. Relevant stages of selection in sport horse breeding programs were analyzed by applying selection index theory. Results in terms of accuracies of indices (r(TI) ) and relative selection response indicated that information on single nucleotide polymorphism (SNP) genotypes considerably increases the accuracy of breeding values estimated fo...
