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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.
Edition of Prostaglandin E2 Receptors EP2 and EP4 by CRISPR/Cas9 Technology in Equine Adipose Mesenchymal Stem Cells.
Animals : an open access journal from MDPI    June 23, 2020   Volume 10, Issue 6 1078 doi: 10.3390/ani10061078
Mançanares ACF, Cabezas J, Manríquez J, de Oliveira VC, Wong Alvaro YS, Rojas D, Navarrete Aguirre F, Rodriguez-Alvarez L, Castro FO.In mesenchymal stem cells (MSCs), it has been reported that prostaglandin E2 (PGE2) stimulation of EP2 and EP4 receptors triggers processes such as migration, self-renewal, survival, and proliferation, and their activation is involved in homing. The aim of this work was to establish a genetically modified adipose (aMSC) model in which receptor genes EP2 and EP4 were edited separately using the CRISPR/Cas9 system. After edition, the genes were evaluated as to if the expression of MSC surface markers was affected, as well as the migration capacity in vitro of the generated cells. Adipose MSCs we...
Coat Color Roan Shows Association with KIT Variants and No Evidence of Lethality in Icelandic Horses.
Genes    June 22, 2020   Volume 11, Issue 6 doi: 10.3390/genes11060680
Voß K, Tetens J, Thaller G, Becker D.Roan (Rn) horses show a typical seasonal change of color. Their body is covered with colored and white hair. We performed a descriptive statistical analysis of breeding records of Icelandic horses to challenge the hypothesis of roan being lethal in utero under homozygous condition. The roan to non-roan ratio of foals from roan × roan matings revealed homozygous roan Icelandic horses to be viable. Even though roan is known to be inherited in a dominant mode and epistatic to other coat colors, the causative mutation is still unknown. Nevertheless, an association between roan phenotype and the K...
Combining Threshold, Thurstonian and Classical Linear Models in Horse Genetic Evaluations for Endurance Competitions.
Animals : an open access journal from MDPI    June 22, 2020   Volume 10, Issue 6 1075 doi: 10.3390/ani10061075
Cervantes I, Gutiérrez JP, García-Ballesteros S, Varona L.The racing time and rank at finish traits are commonly used for endurance horse breeding programs as a measure of their performance. Even so, given the nature of endurance competitions, many horses do not finish the race. However, the exclusion of non placed horses from the dataset could have an influence on the prediction of individual breeding values. The objective of the present paper was to develop a multitrait model including race time (T), rank (R) and placing (P), with different methodologies, to improve the genetic evaluation in endurance competitions in Spain. The database contained 6...
Molecular phylogeny of Sarcocystis fayeri (Apicomplexa: Sarcocystidae) from the domestic horse Equus caballus based on 18S rRNA gene sequences and its prevalence.
Letters in applied microbiology    June 22, 2020   Volume 71, Issue 4 377-385 doi: 10.1111/lam.13335
Abdel-Gaber R, Al Quraishy S, Dkhil MA, Alghamdi J, Al-Shaebi E.Sarcocystosis is a parasitic disease caused by an intracellular protozoan parasite Sarcocystis belonging to the phylum Apicomplexa. These parasites have a requisite two-host life cycle. Recently, there are many Sarcocystis species that identified morphologically. In the present study, diaphragmatic muscle samples from the domestic horse (Equus caballus) were examined for Sarcocystis infection. The natural infection with sarcocysts was recorded to be 62·5% for only microcysts in the infected muscles. Molecular analysis using the 18S rRNA gene was conducted to swiftly and accurately identify th...
High Frequencies of TNC and COL5A1 Genotypes Associated With Low Risk for Superficial Digital Flexor Tendinopathy in Greek Indigenous Horse Breeds Compared With Warmblood Horses.
Journal of equine veterinary science    June 20, 2020   Volume 92 103173 doi: 10.1016/j.jevs.2020.103173
Giantsis IA, Diakakis NE, Avdi M.Tendinopathies constitute a very common category of musculoskeletal disorders, causing economic losses in the equine industry and animal welfare issues in horse populations. Sport and racehorses are in general sensitive to tendinopathies, whereas local indigenous horse populations are often more tolerant to various disorders. Particularly, indigenous Greek horse breeds have evolved and adapted in the rough topographic features of mountainous and semimountainous Greek terrain and are less prone to develop tendinopathies. Susceptibility to tendinopathy has been proposed to be associated with thr...
Skin exhibits of Dark Ronald XX are homozygous wild type at the Warmblood fragile foal syndrome causative missense variant position in lysyl hydroxylase gene PLOD1.
Animal genetics    June 17, 2020   Volume 51, Issue 5 838-840 doi: 10.1111/age.12972
Zhang X, Hirschfeld M, Schafberg R, Swalve H, Brenig B.No abstract available
Identification of monoclonal antibodies suitable for blocking IGF-1 receptors in the horse.
Domestic animal endocrinology    June 17, 2020   Volume 74 106510 doi: 10.1016/j.domaniend.2020.106510
Rahnama S, Vathsangam N, Spence R, Anderson ST, de Laat MA, Bailey S, Sillence MN.Prolonged hyperinsulinemia is thought to be the cause of equine endocrinopathic laminitis, a common and crippling disease of the foot, for which there are no pharmacologic treatments other than pain relief. It has been suggested that insulin causes its effects on the lamellae by activating IGF-1 receptors (IGF-1R), as insulin receptors (InsR) are scarce in this tissue, whereas IGF-1R are abundant and become downregulated after prolonged insulin infusion. As a first step toward confirming this mechanism and beginning to develop a therapeutic anti-IGF-1R monoclonal antibody (mAb) for horses, it ...
Genome Diversity and the Origin of the Arabian Horse.
Scientific reports    June 16, 2020   Volume 10, Issue 1 9702 doi: 10.1038/s41598-020-66232-1
Cosgrove EJ, Sadeghi R, Schlamp F, Holl HM, Moradi-Shahrbabak M, Miraei-Ashtiani SR, Abdalla S, Shykind B, Troedsson M, Stefaniuk-Szmukier M....The Arabian horse, one of the world's oldest breeds of any domesticated animal, is characterized by natural beauty, graceful movement, athletic endurance, and, as a result of its development in the arid Middle East, the ability to thrive in a hot, dry environment. Here we studied 378 Arabian horses from 12 countries using equine single nucleotide polymorphism (SNP) arrays and whole-genome re-sequencing to examine hypotheses about genomic diversity, population structure, and the relationship of the Arabian to other horse breeds. We identified a high degree of genetic variation and complex ances...
The transfer of 239+240Pu, 241Am, 137Cs and 90Sr to the tissues of horses.
Journal of environmental radioactivity    June 16, 2020   Volume 222 106322 doi: 10.1016/j.jenvrad.2020.106322
Baigazinov ZА, Lukashenko SN, Panitsky АV, Kadyrova NZ, Karatayev SS, Mamyrbayeva АS, Baigazy SА, Bazarbaeva АМ, Kabdyrakova AB....Horses are important food sources in several countries however, data on their radionuclide uptake is less available than for many other farm animals. Information on the transfer of artificial radioisotopes from the environment to the food supply is necessary for internal dose assessment and assuring the safety of the population relying on this food source. This study provides data for a less studied farm animal and, in the case of Am and Pu, relatively poorly studied radionuclides with respect to transfer to animal products. The transfer parameters for Pu, Am, Cs and Sr to the organs of 1-year...
Enterocytozoon bieneusi in donkeys from Xinjiang, China: prevalence, molecular characterization and the assessment of zoonotic risk.
BMC veterinary research    June 15, 2020   Volume 16, Issue 1 196 doi: 10.1186/s12917-020-02409-0
Zhao A, Zhang Y, Wang W, Jing B, Xing J, Tao D, Zhao W, Qi M.Enterocytozoon bieneusi, a zoonotic pathogen, has the potential to infect both immunocompromised and immunocompetent humans. It is found in large number of animals; however, not much is known regarding its prevalence in equine animals, particularly donkeys. This is the first molecular epidemiological evaluation of E. bieneusi in 178 free-ranging donkeys from five countrysides; and 502 farmed donkeys from 18 farms in 12 cities of Xinjiang, China by Nested PCR. Results: E. bieneusi was detected in 2.5% (17/680) donkeys, with 2.6% (13/502) in farmed and 2.2% (4/178) in free-ranging ones. Sequence...
Identification by mass spectrometry and immunoblotting of xenogeneic antigens in the N- and O-glycomes of porcine, bovine and equine heart tissues.
Glycoconjugate journal    June 15, 2020   Volume 37, Issue 4 485-498 doi: 10.1007/s10719-020-09931-1
Jin C, Cherian RM, Liu J, Playà-Albinyana H, Galli C, Karlsson NG, Breimer ME, Holgersson J.Animal bioprosthetic heart valves (BHV) are used to replace defective valves in patients with valvular heart disease. Especially young BHV recipients may experience a structural valve deterioration caused by an immune reaction in which α-Gal and Neu5Gc are potential target antigens. The expression of these and other carbohydrate antigens in animal tissues used for production of BHV was explored. Protein lysates of porcine aortic and pulmonary valves, and porcine, bovine and equine pericardia were analyzed by Western blotting using anti-carbohydrate antibodies and lectins. N-glycans were relea...
Expression of enzymes involved in polyunsaturated fatty acid synthesis in the stallion testis and epididymis.
Reproduction, fertility, and development    June 13, 2020   Volume 32, Issue 9 851-861 doi: 10.1071/RD19342
Gautier C, Scarlet D, Ertl R, Walter I, Wulf M, Nagel C, Aurich J, Aurich C.The aim of the present study was to characterise key enzymes involved in polyunsaturated fatty acid (PUFA) synthesis in the testis and epididymis collected from 2-year-old healthy warmblood stallions (n=10). The mRNA expression of fatty acid synthase, the Δ9-, Δ6-, Δ5- and Δ4-desaturases and elongases 6, 5 and 2 (encoded by the fatty acid synthase (FASN), the stearoyl-CoA desaturase (SCD), the fatty acid desaturase 2 (FADS2), the fatty acid desaturase 1 (FADS1), the delta 4-desaturase, sphingolipid 1 (DEGS1), ELOVL fatty acid elongase 6(ELOVL6), ELOVL fatty acid elongase 5 (ELOVL5), ELOVL ...
Env diversity-dependent protection of the attenuated equine infectious anaemia virus vaccine.
Emerging microbes & infections    June 12, 2020   Volume 9, Issue 1 1309-1320 doi: 10.1080/22221751.2020.1773323
Lin Y, Wang XF, Wang Y, Du C, Ren H, Liu C, Zhu D, Chen J, Na L, Liu D, Yang Z, Wang X.Lentiviruses harbour high genetic variability for efficient evasion from host immunity. An attenuated equine infectious anaemia (EIA) vaccine was developed decades ago in China and presented remarkably robust protection against EIA. The vaccine was recently proven to have high genomic diversity, particular in . However, how and to what extent the high diversity relates to immune protection remains unclear. In this study, we compared immune protections and responses of three groups of horses stimulated by the high-diversity vaccine EIAV_HD, a single molecular clone of the vaccine EIAV_LD with ...
Genetic Variability and Population Structure in the Sardinian Anglo-Arab Horse.
Animals : an open access journal from MDPI    June 11, 2020   Volume 10, Issue 6 1018 doi: 10.3390/ani10061018
Giontella A, Sarti FM, Cardinali I, Giovannini S, Cherchi R, Lancioni H, Silvestrelli M, Pieramati C.The Sardinian Anglo Arab (SAA) is a famous horse breed in Italy, with a significant historical background in the island of Sardinia. The aim of the study is to perform an evaluation of genetic variability in SAA using pedigree and mitochondrial data. In the current population, pedigree completeness was observed to be close to 100%, while the inbreeding coefficient and the average relatedness were lower than 3%. The ratio of effective founders/numbers of ancestors was 3.68 for the whole pedigree. The effective population size (N) computed by an individual increase in inbreeding (N) was 456.86, ...
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...
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