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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.
Genetics of Equine Orthopedic Disease.
The Veterinary clinics of North America. Equine practice    June 11, 2020   Volume 36, Issue 2 289-301 doi: 10.1016/j.cveq.2020.03.008
Metzger J, Distl O.Orthopedic diseases are a common cause for limited exercise capacity in the horse. They often underlie genetic risk factors, which can affect bone, articular cartilage, tendons, ligaments, and adnexal structures among others. The genetic effects can directly interfere with tissue development and skeletal growth or can trigger degenerative or inflammatory processes. Many of these diseases of the locomotor system like osteochondrosis are complex and can be affected by multifactorial influences. For this reason, it is important for those performing diagnostic procedures to have a comprehensive kn...
Genetics of Equine Endocrine and Metabolic Disease.
The Veterinary clinics of North America. Equine practice    June 11, 2020   Volume 36, Issue 2 341-352 doi: 10.1016/j.cveq.2020.03.011
Norton E, McCue ME.A role for a genetic contribution to equine metabolic syndrome (EMS) and pars pituitary intermedia dysfunction (PPID) has been hypothesized. Heritability estimates of EMS biochemical measurements were consistent with moderately to highly heritable traits. Further, genome-wide association analyses have identified hundreds of regions of the genome contributing to EMS and candidate variants have been identified. The genetics of PPID has not yet been proven. Continued research for the specific genetic risk factors for both EMS and PPID is crucial for gaining a better understanding of the pathophys...
Effects of Hemicastration on Testes and Testosterone Concentration in Stallions.
Journal of equine veterinary science    June 11, 2020   Volume 92 103166 doi: 10.1016/j.jevs.2020.103166
Jung H, Lee G, Kim J, Lee JW, Yoon M.The endocrine system is critical to the maintenance of testicular function. The homeostasis of sex hormone levels is orchestrated by positive and negative feedback systems controlled by the hypothalamic-pituitary-gonadal axis. This study investigated the long-term effects of hemicastration on testicular size and function in stallions. Four Thoroughbred stallions, 4-6 years of age, were included in this study. Several parameters, including testicular weight and volume, plasma testosterone concentrations, VASA-positive germ cell populations and cross-sectional areas of the seminiferous tubules ...
Genetic Testing in the Horse.
The Veterinary clinics of North America. Equine practice    June 10, 2020   Volume 36, Issue 2 211-234 doi: 10.1016/j.cveq.2020.03.003
Bellone RR, Avila F.Genetic testing in horses began in the 1960s, when parentage testing using blood group markers became the standard. In the 1990s, parentage testing shifted from evaluating blood groups to DNA testing. The development of genetics and genomics in both human and veterinarian medicine, along with continued technological advances in the last 2 decades, has helped unravel the causal variants for many horse traits. Genetic testing is also now possible for a variety of phenotypic and disease traits and is used to assist in breeding and clinical management decisions. This article describes the genetic ...
Equine Genetic Diseases.
The Veterinary clinics of North America. Equine practice    June 10, 2020   Volume 36, Issue 2 xiii doi: 10.1016/j.cveq.2020.05.001
Finno CJ.No abstract available
Genetics of Equine Reproductive Diseases.
The Veterinary clinics of North America. Equine practice    June 10, 2020   Volume 36, Issue 2 395-409 doi: 10.1016/j.cveq.2020.03.013
Raudsepp T.Reproductive disorders are genetically heterogeneous and complex; available genetic tests are limited to chromosome analysis and 1 susceptibility gene. Cytogenetic analysis should be the first test to confirm or rule out chromosomal aberrations. No causative genes/mutations are known. The only available genetic test for stallion subfertility is based on a susceptibility gene FKBP6. The ongoing progress in equine genomics will improve the status of genetic testing. However, because subfertile phenotypes do not facilitate collection of large numbers of samples or pedigrees, and clinical causes o...
Genetics of Equine Behavioral Traits.
The Veterinary clinics of North America. Equine practice    June 10, 2020   Volume 36, Issue 2 411-424 doi: 10.1016/j.cveq.2020.03.014
Wickens C, Brooks SA.Behavior is a valuable quantitative trait in the horse because of its impact on performance, work, recreation, and prerequisite close interactions with humans. This article reviews what is known about the genetics of behavior in horses with an emphasis on the genetic basis for temperament traits, neuroendocrine function, and stereotypic behavior. The importance of using modern molecular genetic techniques to the study of equine behavior and recommendations for future research are also discussed. Ultimately, these studies enhance the understanding of the biology of behavior in the horse, improv...
Equine Genotyping Arrays.
The Veterinary clinics of North America. Equine practice    June 10, 2020   Volume 36, Issue 2 183-193 doi: 10.1016/j.cveq.2020.03.001
Schaefer RJ, McCue ME.High-quality genomic tools have been integral in understanding genomic architecture and function in the modern-day horse. The equine genetics community has a long tradition of pooling resources to develop genomic tools. Since the equine genome was sequenced in 2006, several iterations of high throughput genotyping arrays have been developed and released, enabling rapid and cost-effective genotyping. This review highlights the design considerations of each iteration, focusing on data available during development and outlining considerations in selecting the genetic variants included on each arr...
Unraveling the Genetics Behind Equid Cardiac Disease.
The Veterinary clinics of North America. Equine practice    June 10, 2020   Volume 36, Issue 2 235-241 doi: 10.1016/j.cveq.2020.03.004
Fousse SL, Stern JA.There have been some advances in understanding the genetic contribution to ventricular septal defects in Arabians, sudden death in racehorses, and atrial fibrillation in racehorses. No genetic analyses have been published for aortic rupture in Friesians or atrioventricular block in donkeys despite strong evidence for a genetic cause. To date, no genetic mutation has been identified for any equid cardiac disease. With the advancement of genetic tools and resources, we are moving closer to discoveries that may explain the heritable basis of inherited equid cardiac disease.
Genetics of Equine Respiratory Disease.
The Veterinary clinics of North America. Equine practice    June 10, 2020   Volume 36, Issue 2 243-253 doi: 10.1016/j.cveq.2020.03.005
Gerber V.Genetic factors influence the development of guttural pouch tympany, recurrent laryngeal neuropathy, severe equine asthma, exercise-induced pulmonary hemorrhage, and possibly also some malformations and infectious diseases of the respiratory tract. The current data suggest that most of these diseases are complex, resulting from the interaction between several genes and environmental factors. To date, no specific genes or causative mutations have been identified that would allow the development of practical genetic tests. In the future, genetic profiling panels, based on multiple genetic marker...
Genetics of Skin Disease in Horses.
The Veterinary clinics of North America. Equine practice    June 10, 2020   Volume 36, Issue 2 323-339 doi: 10.1016/j.cveq.2020.03.010
Lindgren G, Naboulsi R, Frey R, Solé M.Equine skin diseases are common, causing increased costs and reduced welfare of affected horses.Genetic testing, if available, can complement early detection, disease diagnosis, and clinical treatment and offers horse breeders the possibility to rule out carrier status. The mechanisms of complex disease can be investigated by using the latest state-of-the-art genomic technologies. Genome-based strategies may also serve as an efficient and cost-effective strategy for the management of the disease severity levels, with particular interest in complex traits such as insect bite hypersensitivity, c...
Genetic Diversity and Signatures of Selection in a Native Italian Horse Breed Based on SNP Data.
Animals : an open access journal from MDPI    June 8, 2020   Volume 10, Issue 6 1005 doi: 10.3390/ani10061005
Ablondi M, Dadousis C, Vasini M, Eriksson S, Mikko S, Sabbioni A.Horses are nowadays mainly used for sport and leisure activities, and several local breeds, traditionally used in agriculture, have been exposed to a dramatic loss in population size and genetic diversity. The loss of genetic diversity negatively impacts individual fitness and reduces the potential long-term survivability of a breed. Recent advances in molecular biology and bioinformatics have allowed researchers to explore biodiversity one step further. This study aimed to evaluate the loss of genetic variability and identify genomic regions under selection pressure in the Bardigiano breed ba...
GIBBSTHUR: Software for Estimating Variance Components and Predicting Breeding Values for Ranking Traits Based on a Thurstonian Model.
Animals : an open access journal from MDPI    June 8, 2020   Volume 10, Issue 6 1001 doi: 10.3390/ani10061001
Varona L, Legarra A.(1) Background: Ranking traits are used commonly for breeding purposes in several equine populations; however, implementation is complex, because the position of a horse in a competition event is discontinuous and is influenced by the performance of its competitors. One approach to overcoming these limitations is to assume an underlying Gaussian liability that represents a horse's performance and dictates the observed classification in a competition event. That approach can be implemented using Montecarlo Markov Chain (McMC) techniques with a procedure known as the Thurstonian model. (2) Metho...
Hormonal Stimulation in a Gonadal Dysgenesis Mare.
Journal of equine veterinary science    June 7, 2020   Volume 92 103154 doi: 10.1016/j.jevs.2020.103154
Larentis GR, Bastos HBA, Centeno LAM, Bueno VC, Bringel BA, Mattos RC.The present case report aimed to determine the responsiveness of the endometrium and the ovaries of an X0 mare after hormonal treatment. On transrectal palpation, the uterus was flaccid and smaller than normal, and the ovaries were small and smooth. The endometrium had normal histological architecture, with an atrophic glandular epithelium. A karyotype evaluation was performed, and 70 cells presented 63 chromosomes, lacking one sex chromosome. Circulating hormonal levels of total estrogens were 43.93 pg/mL; progesterone 0.01 ng/mL; testosterone 48 pg/mL; FSH 30.3 ng/mL; and LH 1.71 ng/mL. ...
Equus caballus papillomavirus type 2 (EcPV2) in co-occurring vulvar and gastric lesions of a pony.
Research in veterinary science    June 5, 2020   Volume 132 167-171 doi: 10.1016/j.rvsc.2020.06.003
Porcellato I, Modesto P, Cappelli K, Varello K, Peletto S, Brachelente C, Martini I, Mechelli L, Ferrari A, Ghelardi A, Razzuoli E.In horses, squamous cell carcinomas (SCCs) are the most common malignant tumors developing on non-pigmented skin, muco-cutaneous areas, like external genitalia, and, less frequently, in the stomach. Growing evidence suggests Equus caballus papillomavirus type 2 (EcPV2) as causative agent of genital SCCs. Our case report describes a 20-year-old, female, mixed-breed pony with co-occurring vulvar papilloma and in situ carcinoma and gastric SCC. Both lesions were positive for the same EcPV2, as confirmed by DNA sequencing. E6 mRNA expression was observed both in vulvar lesions and gastric SCC, whi...
Comparative Transcriptome Profiling Analysis Uncovers Novel Heterosis-Related Candidate Genes Associated with Muscular Endurance in Mules.
Animals : an open access journal from MDPI    June 4, 2020   Volume 10, Issue 6 980 doi: 10.3390/ani10060980
Gao S, Nanaei HA, Wei B, Wang Y, Wang X, Li Z, Dai X, Wang Z, Jiang Y, Shao J.Heterosis has been widely exploited in animal and plant breeding programs to enhance the productive traits of hybrid progeny from two breeds or species. However, its underlying genetic mechanisms remain enigmatic. Transcriptome profiling analysis can be used as a method for exploring the mechanism of heterosis. Here, we performed genome-wide gene expression and alternative splicing (AS) analyses in different tissues (muscle, brain, and skin) from crosses between donkeys and horses. Our results indicated that 86.1% of the differentially expressed genes (DEGs) and 87.2% of the differential alter...
Isolation and characterization of a rare group A rotavirus G13P[18] strain from a diarrhoeic foal in Japan.
The Journal of general virology    June 4, 2020   Volume 101, Issue 8 800-805 doi: 10.1099/jgv.0.001437
Nemoto M, Niwa H, Kida H, Higuchi T, Orita Y, Sato S, Bannai H, Tsujimura K, Ohta M.A rare genotype G13P[18] group A rotavirus (RVA/Horse-tc/JPN/MK9/2019/G13P[18]) was isolated from a diarrhoeic foal for the first time in 28 years. The genotype constellation of the virus was assigned to G13-P[18]-I6-R9-C9-M6-A6-N9-T12-E14-H11 and was the same as that of the first isolated strain, RVA/Horse-tc/GBR/L338/1991/G13P[18]. Phylogenetic analysis suggests that the virus is related to RVA/Horse-tc/GBR/L338/1991/G13P[18] and is distant from typical equine rotaviruses of the G3P[12] and G14P[12] genotypes.
Identification of the novel polymorphisms and potential genetic features of the prion protein gene (PRNP) in horses, a prion disease-resistant animal.
Scientific reports    June 2, 2020   Volume 10, Issue 1 8926 doi: 10.1038/s41598-020-65731-5
Kim YC, Won SY, Do K, Jeong BH.Prion diseases, a protein misfolded disorder (PMD) caused by misfolded prion protein (PrP), present in a wide variety of hosts, ranging from ungulates to humans. To date, prion infections have not been reported in horses, which are well-known as prion disease-resistant animals. Several studies have attempted to identify distinctive features in the prion protein of horses compared to prion disease-susceptible animals, without the study on polymorphisms of the horse prion protein gene (PRNP). Since single nucleotide polymorphisms (SNPs) of PRNP in prion disease-susceptible animals are major susc...
Actinomyces as a Cause of Osteomyelitis of the Nasofrontal Suture in a Gelding.
Journal of equine veterinary science    May 30, 2020   Volume 91 103148 doi: 10.1016/j.jevs.2020.103148
Boorman S, Boone L, Weatherall K, Caldwell F.A 7-year-old American Quarter Horse gelding was referred to the JT Vaughan Large Animal Teaching Hospital at Auburn University, College of Veterinary Medicine, for an investigation of a recurrent swelling of the nasofrontal region. Computed tomography examination of the skull was most consistent with a sequestrum of the left nasofrontal suture with associated focal osteomyelitis and left conchofrontal sinusitis. Surgery to remove the sequestrum, debride the devitalized bone, and flush the left conchofrontal sinus was performed. A microbial culture was obtained at the time of surgery, which yie...
An Independent Locus Upstream of ASIP Controls Variation in the Shade of the Bay Coat Colour in Horses.
Genes    May 30, 2020   Volume 11, Issue 6 606 doi: 10.3390/genes11060606
Corbin LJ, Pope J, Sanson J, Antczak DF, Miller D, Sadeghi R, Brooks SA.Novel coat colour phenotypes often emerge during domestication, and there is strong evidence of genetic selection for the two main genes that control base coat colour in horses- and . These genes direct the type of pigment produced, red pheomelanin () or black eumelanin (), as well as the relative concentration and the temporal-spatial distribution of melanin pigment deposits in the skin and hair coat. Here, we describe a genome-wide association study (GWAS) to identify novel genic regions involved in the determination of the shade of bay. In total, 126 horses from five different breeds were r...
Alterations of cardiac and renal biomarkers in horses naturally infected with theileria equi.
Comparative immunology, microbiology and infectious diseases    May 30, 2020   Volume 71 101502 doi: 10.1016/j.cimid.2020.101502
Ahmadpour S, Esmaeilnejad B, Dalir-Naghadeh B, Asri-Rezaei S.Equine theileriosis due to Theileria equi is probably the most widespread and pathogenic disease of equines, which comes with major cardiac and renal complications. This study was undertaken to investigate the biomarkers of cardiac and renal functions in horses infected with T. equi and determine the association between these parameters and the level of parasitemia. Giemsa-stained blood smears from 300 horses with ages of 3-4 years old were examined for detection of T. equi on erythrocytes. Moreover, multiplex PCR was employed for confirmation of the diagnosis in the 28 positive cases. Based o...
Stem Cells in Veterinary Medicine-Current State and Treatment Options.
Frontiers in veterinary science    May 29, 2020   Volume 7 278 doi: 10.3389/fvets.2020.00278
Voga M, Adamic N, Vengust M, Majdic G.Regenerative medicine is a branch of medicine that develops methods to grow, repair, or replace damaged or diseased cells, organs or tissues. It has gained significant momentum in recent years. Stem cells are undifferentiated cells with the capability to self-renew and differentiate into tissue cells with specialized functions. Stem cell therapies are therefore used to overcome the body's inability to regenerate damaged tissues and metabolic processes after acute or chronic insult. The concept of stem cell therapy was first introduced in 1991 by Caplan, who proposed that massive differentiatio...
New EHV-1 variant identified.
The Veterinary record    May 25, 2020   Volume 186, Issue 17 573 doi: 10.1136/vr.m1441
Paillot R, Sutton G, Thieulent C, Marcillaud-Pitel C, Pronost S.No abstract available
Phenotype and function of IgE-binding monocytes in equine Culicoides hypersensitivity.
PloS one    May 22, 2020   Volume 15, Issue 5 e0233537 doi: 10.1371/journal.pone.0233537
Larson EM, Babasyan S, Wagner B.Human IgE-binding monocytes are identified as allergic disease mediators, but it is unknown whether IgE-binding monocytes promote or prevent an allergic response. We identified IgE-binding monocytes in equine peripheral blood as IgE+/MHCIIhigh/CD14low cells that bind IgE through an FcεRI αɣ variant. IgE-binding monocytes were analyzed monthly in Culicoides hypersensitive horses and nonallergic horses living together with natural exposure to Culicoides midges. The phenotype and frequency of IgE-binding monocytes remained consistent in all horses regardless of Culicoides exposure. All horses ...
Ancient Patrilineal Lines and Relatively High ECAY Diversity Preserved in Indigenous Horses Revealed With Novel Y-Chromosome Markers.
Frontiers in genetics    May 21, 2020   Volume 11 467 doi: 10.3389/fgene.2020.00467
Liu S, Yang Y, Pan Q, Sun Y, Ma H, Liu Y, Wang M, Zhao C, Wu C.Extremely low nucleotide diversity of modern horse Y-chromosome has been reported, and only poor phylogenetic resolution could be resulted from limited Y-chromosome markers. In this study, three types of horse Y-chromosome markers, including Single-nucleotide polymorphisms (SNPs), copy number variants (CNVs), and allele-specific CNVs, were developed by screening more than 300 male horses from 23 indigenous Chinese horse populations and 4 imported horse breeds. Fourteen segregating sites including a novel SNP in the AMELY gene were found in approximately 53 kb of male-specific Y-chromosome sequ...
Mass spectrometric analysis of the in vitro secretome from equine bone marrow-derived mesenchymal stromal cells to assess the effect of chondrogenic differentiation on response to interleukin-1β treatment.
Stem cell research & therapy    May 20, 2020   Volume 11, Issue 1 187 doi: 10.1186/s13287-020-01706-7
Bundgaard L, Stensballe A, Elbæk KJ, Berg LC.Similar to humans, the horse is a long-lived, athletic species. The use of mesenchymal stromal cells (MSCs) is a relatively new frontier, but has been used with promising results in treating joint diseases, e.g., osteoarthritis. It is believed that MSCs exert their main therapeutic effects through secreted trophic biomolecules. Therefore, it has been increasingly important to characterize the MSC secretome. It has been shown that the effect of the MSCs is strongly influenced by the environment in the host compartment, and it is a crucial issue when considering MSC therapy. The aim of this stud...
Parasite load and genotype are associated with clinical outcome of piroplasm-infected equines in Israel.
Parasites & vectors    May 20, 2020   Volume 13, Issue 1 267 doi: 10.1186/s13071-020-04133-y
Tirosh-Levy S, Steinman A, Levy H, Katz Y, Shtilman M, Gottlieb Y.Equine piroplasmosis is a highly endemic protozoan disease of horses worldwide, caused by Theileria equi and Babesia caballi. While most horses in endemic areas are subclinically infected, the mechanisms leading to clinical outcome are vastly unknown. Moreover, since clinical signs of disease are not specific, and the prevalence in endemic areas is high, it is difficult to determine if equine piroplasmosis is the cause of disease. To identify possible mechanisms leading to the clinical outcome in an endemic area, we compared parasite loads and genotypes in clinically and subclinically infected...
Priming for welfare: gut microbiota is associated with equitation conditions and behavior in horse athletes.
Scientific reports    May 20, 2020   Volume 10, Issue 1 8311 doi: 10.1038/s41598-020-65444-9
Mach N, Ruet A, Clark A, Bars-Cortina D, Ramayo-Caldas Y, Crisci E, Pennarun S, Dhorne-Pollet S, Foury A, Moisan MP, Lansade L.We simultaneously measured the fecal microbiota and multiple environmental and host-related variables in a cohort of 185 healthy horses reared in similar conditions during a period of eight months. The pattern of rare bacteria varied from host to host and was largely different between two time points. Among a suite of variables examined, equitation factors were highly associated with the gut microbiota variability, evoking a relationship between gut microbiota and high levels of physical and mental stressors. Behavioral indicators that pointed toward a compromised welfare state (e.g. stereotyp...
Mobility and Invasion Related Gene Expression Patterns in Equine Sarcoid.
Animals : an open access journal from MDPI    May 19, 2020   Volume 10, Issue 5 880 doi: 10.3390/ani10050880
Podstawski P, Witarski W, Szmatoła T, Bugno-Poniewierska M, Ropka-Molik K.Sarcoids are the most common skin neoplasm in the Equidae family. Sarcoids are benign, but may cause severe damage in affected animals. Due to the high risk of post-treatment recurrence and the lack of an effective method of treatment, it is reasonable to perform studies on the molecular aspects of this neoplasm. Therefore, the present studies analyzed five genes (cell cycle control binding protein alpha, coronin 1b, metalloproteinase 2, tissue inhibitor of metalloproteinases 3 and vimentin) related to cell mobility and invasion traits. Primary healthy fibroblasts and sarcoid cells were obtain...
Accelerometers Provide Early Genetic Selection Criteria for Jumping Horses.
Frontiers in genetics    May 19, 2020   Volume 11 448 doi: 10.3389/fgene.2020.00448
Ricard A, Dumont Saint Priest B, Danvy S, Barrey E.The aim of this study was to evaluate the genetic component of the locomotor jumping ability, via a wearable accelerometer sensor, and to estimate the genetic correlation with performance in competition, to introduce such criteria in selection schema. A sample of 1,056 young 3-year-old horses were equipped with a 3-dimensional accelerometer during a free jumping test, in regular breeding shows from 2015 to 2017. Seven variables were extracted from the dorso-ventral acceleration curve for the last three jumps over a double bar obstacle of 1.15 m for the front pole and 1.20 m for the back pole w...
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