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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.
Genetic Diversity and Maternal Phylogenetic Relationships among Populations and Strains of Arabian Show Horses.
Animals : an open access journal from MDPI    June 17, 2023   Volume 13, Issue 12 2021 doi: 10.3390/ani13122021
Machmoum M, Badaoui B, Petit D, Germot A, El Alaoui MA, Boujenane I, Piro M.Genetic diversity and phylogenetic relationships within the Arabian show horse populations are of particular interest to breeders worldwide. Using the complete mitochondrial DNA D-loop sequence (916 pb), this study aimed (i) to understand the genetic relationship between three populations, the Desert-Bred (DB), a subset of the Kingdom of Saudi Arabia (KSA), United Arab Emirates (UAE) and Bahrain (BAH), the Straight Egyptian (EG) and the Polish bloodline (PL), and (ii) to assess the accuracy of the traditional strain classification system based on maternal lines, as stated by the Bedouin cultur...
Complete genomic characterization of bovine papillomavirus type 1 and 2 strains infers ongoing cross-species transmission between cattle and horses.
Veterinary journal (London, England : 1997)    June 17, 2023   Volume 298-299 106011 doi: 10.1016/j.tvjl.2023.106011
Gysens L, Vanmechelen B, Maes P, Martens A, Haspeslagh M.Infection with bovine papillomavirus (BPV) types 1 and 2 results in the most common skin tumor of horses, termed equine sarcoid. The persistent and recurrent nature of this tumor stands in contrast to the regressive nature of BPV-1/- 2 induced cutaneous papillomas in cattle. The circulation of horse-specific BPV-1/- 2 variants within equine populations has been suggested as a possible explanation for the difference in clinical presentation of BPV-1/- 2 infection between horses and cattle. In order to investigate this hypothesis, we identified 98 complete BPV-1/- 2 genomes using a Nanopore ...
Racing Performance of the Quarter Horse: Genetic Parameters, Trends and Correlation for Earnings, Best Time and Time Class.
Animals : an open access journal from MDPI    June 17, 2023   Volume 13, Issue 12 2019 doi: 10.3390/ani13122019
Faria R, Vicente A, Silva J.The aim of this study was to evaluate the sprint racing performance of Quarter Horses in Brazil. Estimating genetic parameters, trends and correlations were obtained by single- and two-trait analyses using Bayesian inference (earnings to 2 years of equestrian age, best time and time class at distances of 301 m and 402 m). The data comprised a period of 38 equestrian years (1978 to 2015) with 23,482 sprint race records from 5861 animals. The heritability estimates were of low to moderate magnitude, ranging from 0.10 to 0.37 (single-trait) and from 0.15 to 0.41 (two-traits), and the repeatabilit...
Genomic detection of Coxiellaburnetii based on plasmid genes in horses.
Veterinary research forum : an international quarterly journal    June 15, 2023   Volume 14, Issue 6 317-322 doi: 10.30466/vrf.2022.551663.3443
Tehrani M, Ownagh A.Q fever is a worldwide zoonosis caused by an obligate intra-cellular pathogen called affecting a broad range of animal hosts including horses. Most of the isolates found carry plasmids which genetic studies of strains suggest a critical role in survival. The correlation between an isolated plasmid type and the chronic or acute nature of the disease has always been controversial. This study was conducted to investigate the prevalence of and plasmids in horses and assess the potential role of these species as reservoirs of infection and transmission. Nested-polymerase chain reaction (PCR) a...
Metagenetic Analysis of the Pregnant Microbiome in Horses.
Animals : an open access journal from MDPI    June 15, 2023   Volume 13, Issue 12 1999 doi: 10.3390/ani13121999
Beckers KF, Gomes VCL, Crissman KR, Liu CC, Schulz CJ, Childers GW, Sones JL.Placentitis is the leading cause of infectious abortion in the horse. Additionally, it can result in weak and/or growth restricted offspring. While the etiology of ascending placentitis is well described in mares, less is known regarding the pathogenesis of other types, such as nocardioform placentitis. This study aims to identify the microbial communities in different body sites of the pregnant mare in early gestation to establish a core microbiome that may be perturbed in pathologic pregnancies such as placentitis. We hypothesize that the equine placenta harbors a distinct resident microbiom...
Imputed genomes of historical horses provide insights into modern breeding.
iScience    June 14, 2023   Volume 26, Issue 7 107104 doi: 10.1016/j.isci.2023.107104
Todd ET, Fromentier A, Sutcliffe R, Running Horse Collin Y, Perdereau A, Aury JM, Èche C, Bouchez O, Donnadieu C, Wincker P, Kalbfleisch T....Historical genomes can provide important insights into recent genomic changes in horses, especially the development of modern breeds. In this study, we characterized 8.7 million genomic variants from a panel of 430 horses from 73 breeds, including newly sequenced genomes from 20 Clydesdales and 10 Shire horses. We used this modern genomic variation to impute the genomes of four historically important horses, consisting of publicly available genomes from 2 Przewalski's horses, 1 Thoroughbred, and a newly sequenced Clydesdale. Using these historical genomes, we identified modern horses with high...
The Relevance of the Expected Value of the Proportion of Arabian Genes in Genetic Evaluations for Eventing Competitions.
Animals : an open access journal from MDPI    June 13, 2023   Volume 13, Issue 12 doi: 10.3390/ani13121973
Sánchez-Guerrero MJ, Ripollés-Lobo M, Bartolomé E, Perdomo-González DI, Valera M.The Arabian horse is a generally reliable sport horse, and continues to be a remarkable endurance horse, so the relevance of the expected value of the proportion of Arabian genes (EV%AG) in horses participating in eventing could be a relevant factor. A total of 1089 horses participating in eventing (8866 records) were used. A GLM revealed that the EV%AG was significant in dressage, show jumping and cross-country. A BLUP genetic evaluation was computed with five genetic models (without the EV%AG (0) using as a covariate (A), as a fixed effect (B), with variance heterogeneity, and in genetic gro...
Investigation of optimal procedures for storage and use of plasma samples suitable for gene doping tests.
Journal of equine science    June 12, 2023   Volume 34, Issue 2 21-27 doi: 10.1294/jes.34.21
Tozaki T, Ohnuma A, Kikuchi M, Ishige T, Kakoi H, Hirota KI, Takahashi Y, Nagata SI.Gene doping, which is prohibited in horseracing and equestrian sports, can be performed by introducing exogenous genes, known as transgenes, into the bodies of postnatal animals. To detect exogenous genes, a method utilizing quantitative polymerase chain reaction (qPCR) with a hydrolysis probe was developed to test whole blood and plasma samples, thereby protecting the fairness of competition and the rights of stakeholders in horseracing and equestrian sports. Therefore, we aimed to develop sample storage methods suitable for A and B samples in gene doping tests using blood. For sample A, suff...
Genetic diversity and signatures of selection in four indigenous horse breeds of Iran.
Heredity    June 12, 2023   Volume 131, Issue 2 96-108 doi: 10.1038/s41437-023-00624-7
Mousavi SF, Razmkabir M, Rostamzadeh J, Seyedabadi HR, Naboulsi R, Petersen JL, Lindgren G.Indigenous Iranian horse breeds were evolutionarily affected by natural and artificial selection in distinct phylogeographic clades, which shaped their genomes in several unique ways. The aims of this study were to evaluate the genetic diversity and genomewide selection signatures in four indigenous Iranian horse breeds. We evaluated 169 horses from Caspian (n = 21), Turkmen (n = 29), Kurdish (n = 67), and Persian Arabian (n = 52) populations, using genomewide genotyping data. The contemporary effective population sizes were 59, 98, 102, and 113 for Turkmen, Caspian, Persian Ar...
Long-read sequencing assays designed to detect potential gene editing events in the myostatin gene revealed distinct haplotype signatures in the Thoroughbred horse population.
Animal genetics    June 8, 2023   Volume 54, Issue 4 470-482 doi: 10.1111/age.13332
Maniego J, Giles O, Hincks P, Stewart G, Proudman C, Ryder E.We present here the use of targeted, long-read sequencing of the myostatin (MSTN) gene as a model to detect potential gene editing events in Thoroughbred horses. MSTN is a negative regulator of muscle development, making the gene a prime candidate target for gene doping. By sequencing the complete gene in one PCR product, we can catalogue all mutations without the need to produce short-fragment libraries. A panel of reference material fragments with defined mutations was constructed and successfully sequenced by both Oxford Nanopore and Illumina-based methods, showing that gene doping editing ...
Ancient segmentally duplicated LCORL retrocopies in equids.
PloS one    June 8, 2023   Volume 18, Issue 6 e0286861 doi: 10.1371/journal.pone.0286861
Batcher K, Varney S, Raudsepp T, Jevit M, Dickinson P, Jagannathan V, Leeb T, Bannasch D.LINE-1 is an active transposable element encoding proteins capable of inserting host gene retrocopies, resulting in retro-copy number variants (retroCNVs) between individuals. Here, we performed retroCNV discovery using 86 equids and identified 437 retrocopy insertions. Only 5 retroCNVs were shared between horses and other equids, indicating that the majority of retroCNVs inserted after the species diverged. A large number (17-35 copies) of segmentally duplicated Ligand Dependent Nuclear Receptor Corepressor Like (LCORL) retrocopies were present in all equids but absent from other extant peris...
Cerebellar axonopathy in Shivers horses identified by spatial transcriptomic and proteomic analyses.
Journal of veterinary internal medicine    June 8, 2023   Volume 37, Issue 4 1568-1579 doi: 10.1111/jvim.16784
Valberg SJ, Williams ZJ, Henry ML, Finno CJ.Shivers in horses is characterized by abnormal hindlimb movement when walking backward and is proposed to be caused by a Purkinje cell (PC) axonopathy based on histopathology. Objective: Define region-specific differences in gene expression within the lateral cerebellar hemisphere and compare cerebellar protein expression between Shivers horses and controls. Methods: Case-control study of 5 Shivers and 4 control geldings ≥16.2 hands in height. Methods: Using spatial transcriptomics, gene expression was compared between Shivers and control horses in PC soma and lateral cerebellar hemisphere w...
Influence of Rho/ROCK inhibitor Y-27632 on proliferation of equine mesenchymal stromal cells.
Frontiers in veterinary science    June 6, 2023   Volume 10 1154987 doi: 10.3389/fvets.2023.1154987
Melzer M, Burk J, Guest DJ, Dudhia J.Mesenchymal stromal cells (MSC) isolated form bone marrow and adipose tissue are the most common cells used for cell therapy of orthopedic diseases. MSC derived from different tissues show differences in terms of their proliferation, differentiation potential and viability in prolonged cell culture. This suggests that there may be subtle differences in intracellular signaling pathways that modulate these cellular characteristics. The Rho/ROCK signaling pathway is essential for many cellular functions. Targeting of this pathway by the ROCK inhibitor Y-27632 has been shown to be beneficial for c...
Genomic inbreeding estimation, runs of homozygosity, and heterozygosity-enriched regions uncover signals of selection in the Quarter Horse racing line. Santos WB, Pereira CB, Maiorano AM, Arce CDS, Baldassini WA, Pereira GL, Chardulo LAL, Neto ORM, Oliveira HN, Curi RA.With the advent of genomics, significant progress has been made in the genetic improvement of livestock species, particularly through increased accuracy in predicting breeding values for selecting superior animals and the possibility of performing a high-resolution genetic scan throughout the genome of an individual. The main objectives of this study were to estimate the individual genomic inbreeding coefficient based on runs of homozygosity (F ), to identify and characterize runs of homozygosity and heterozygosity (ROH and ROHet, respectively; length and distribution) throughout the genome, a...
Morphological, serological, molecular detection, and phylogenetic analysis of Trypanosoma evansi in horses of different regions in Iran.
Parasitology research    June 5, 2023   Volume 122, Issue 8 1873-1881 doi: 10.1007/s00436-023-07888-2
Javanshir A, Tavassoli M, Esmaeilnejad B.Trypanosoma evansi, the causative agent of "surra" is enzootic in Iran. The current study aimed to detect T. evansi in horses from different regions of Iran using morphological, serological, and molecular methods. In 2021, 400 blood samples were collected from horses in eight regions. Eighty horses showed clinical signs such as cachexia (n = 64), fever (n = 36), foot edema (n = 40), and abdominal edema (n = 32), and 320 horses appeared healthy. All samples from the studied regions were evaluated for the presence of trypanosomes using direct analysis of blood smears, mercuric chloride, and PCR-...
Identification and kinetics of microsomal and recombinant equine liver cytochrome P450 enzymes responsible for in vitro metabolism of omeprazole.
Biochemical pharmacology    June 5, 2023   Volume 214 115635 doi: 10.1016/j.bcp.2023.115635
Ferlini Agne G, Somogyi AA, Sykes B, Knych H, Franklin S.In humans, omeprazole is metabolised by cytochrome P450 (CYP450) CYP2C19 and CYP3A4 with differences in CYP2C19 genotypes leading to variable response to therapy. Despite a wide use of omeprazole in horses with evidence of variable therapeutic efficiency, information regarding enzymatic metabolism is not currently available. This study aims to describe the in vitro kinetics of omeprazole metabolism and determine which enzyme(s) are responsible for omeprazole metabolism in horses. Omeprazole (0-800 uM) was incubated with liver microsomes and a panel of equine recombinant CYP450s (eq-rCYP). Meta...
Development of a novel real-time PCR multiplex assay for detection of Streptococcus equi subspecies equi and Streptococcus equi subspecies zooepidemicus.
Veterinary microbiology    June 3, 2023   Volume 284 109797 doi: 10.1016/j.vetmic.2023.109797
Morris ERA, Schroeder ME, Ferro PJ, Waller AS, McGlennon AA, Bustos CP, Gressler LT, Wu J, Lawhon SD, Boyle AG, Lingsweiler S, Paul N, Dimitrov K....Strangles is a contagious bacterial disease of horses caused by Streptococcus equi subspecies equi (SEE) that occurs globally. Rapid and accurate identification of infected horses is essential for controlling strangles. Because of limitations of existing PCR assays for SEE, we sought to identify novel primers and probes that enable simultaneous detection and differentiation of infection with SEE and S. equi subsp. zooepidemicus (SEZ). Comparative genomics of U.S. strains of SEE and SEZ (n = 50 each) identified SE00768 from SEE and comB from SEZ as target genes. Primers and probes for real-ti...
Refining the evolutionary tree of the horse Y chromosome.
Scientific reports    June 2, 2023   Volume 13, Issue 1 8954 doi: 10.1038/s41598-023-35539-0
Bozlak E, Radovic L, Remer V, Rigler D, Allen L, Brem G, Stalder G, Castaneda C, Cothran G, Raudsepp T, Okuda Y, Moe KK, Moe HH, Kounnavongsa B....The Y chromosome carries information about the demography of paternal lineages, and thus, can prove invaluable for retracing both the evolutionary trajectory of wild animals and the breeding history of domesticates. In horses, the Y chromosome shows a limited, but highly informative, sequence diversity, supporting the increasing breeding influence of Oriental lineages during the last 1500 years. Here, we augment the primary horse Y-phylogeny, which is currently mainly based on modern horse breeds of economic interest, with haplotypes (HT) segregating in remote horse populations around the wor...
New genomic insights into the conformation of Lipizzan horses.
Scientific reports    June 2, 2023   Volume 13, Issue 1 8990 doi: 10.1038/s41598-023-36272-4
Gmel AI, Brem G, Neuditschko M.Conformation traits are important selection criteria in equine breeding, as they describe the exterior aspects of the horse (height, joint angles, shape). However, the genetic architecture of conformation is not well understood, as data of these traits mainly consist of subjective evaluation scores. Here, we performed genome-wide association studies on two-dimensional shape data of Lipizzan horses. Based on this data, we identified significant quantitative trait loci (QTL) associated with cresty neck on equine chromosome (ECA)16 within the MAGI1 gene, and with type, hereby differentiating heav...
In Vitro-Produced Equine Blastocysts Exhibit Greater Dispersal and Intermingling of Inner Cell Mass Cells than In Vivo Embryos.
International journal of molecular sciences    June 1, 2023   Volume 24, Issue 11 9619 doi: 10.3390/ijms24119619
Umair M, Scheeren VFDC, Beitsma MM, Colleoni S, Galli C, Lazzari G, de Ruijter-Villani M, Stout TAE, Claes A.In vitro production (IVP) of equine embryos is increasingly popular in clinical practice but suffers from higher incidences of early embryonic loss and monozygotic twin development than transfer of in vivo derived (IVD) embryos. Early embryo development is classically characterized by two cell fate decisions: (1) first, trophectoderm (TE) cells differentiate from inner cell mass (ICM); (2) second, the ICM segregates into epiblast (EPI) and primitive endoderm (PE). This study examined the influence of embryo type (IVD versus IVP), developmental stage or speed, and culture environment (in vitro ...
Genome-Wide Assessment of Runs of Homozygosity by Whole-Genome Sequencing in Diverse Horse Breeds Worldwide.
Genes    June 1, 2023   Volume 14, Issue 6 1211 doi: 10.3390/genes14061211
Chen C, Zhu B, Tang X, Chen B, Liu M, Gao N, Li S, Gu J.In the genomes of diploid organisms, runs of homozygosity (ROH), consecutive segments of homozygosity, are extended. ROH can be applied to evaluate the inbreeding situation of individuals without pedigree data and to detect selective signatures via ROH islands. We sequenced and analyzed data derived from the whole-genome sequencing of 97 horses, investigated the distribution of genome-wide ROH patterns, and calculated ROH-based inbreeding coefficients for 16 representative horse varieties from around the world. Our findings indicated that both ancient and recent inbreeding occurrences had vary...
A method to generate capture baits for targeted sequencing.
Nucleic acids research    June 1, 2023   Volume 51, Issue 13 e69 doi: 10.1093/nar/gkad460
Sundararaman B, Vershinina AO, Hershauer S, Kapp JD, Dunn S, Shapiro B, Green RE.Hybridization capture approaches allow targeted high-throughput sequencing analysis at reduced costs compared to shotgun sequencing. Hybridization capture is particularly useful in analyses of genomic data from ancient, environmental, and forensic samples, where target content is low, DNA is fragmented and multiplex PCR or other targeted approaches often fail. Here, we describe a DNA bait synthesis approach for hybridization capture that we call Circular Nucleic acid Enrichment Reagent, or CNER (pronounced 'snare'). The CNER method uses rolling-circle amplification followed by restriction dige...
Genetic variation and domestication of horses revealed by 10 chromosome-level genomes and whole-genome resequencing.
Molecular ecology resources    May 31, 2023   Volume 23, Issue 7 1656-1672 doi: 10.1111/1755-0998.13818
Gu J, Li S, Zhu B, Liang Q, Chen B, Tang X, Chen C, Wu DD, Li Y.Understanding the genetic variations of the horse (Equus caballus) genome will improve breeding conservation and welfare. However, genetic variations in long segments, such as structural variants (SVs), remain understudied. We de novo assembled 10 chromosome-level three-dimensional horse genomes, each representing a distinct breed, and analysed horse SVs using a multi-assembly approach. Our findings suggest that SVs with the accumulation of mammalian-wide interspersed repeats related to long interspersed nuclear elements might be a horse-specific mechanism to modulate genome-wide gene regulato...
Production of Mare Chorionic Girdle Organoids That Secrete Equine Chorionic Gonadotropin.
International journal of molecular sciences    May 31, 2023   Volume 24, Issue 11 9538 doi: 10.3390/ijms24119538
Thompson RE, Meyers MA, Palmer J, Veeramachaneni DNR, Magee C, de Mestre AM, Antczak DF, Hollinshead FK.The equine chorionic girdle is comprised of specialized invasive trophoblast cells that begin formation approximately 25 days after ovulation (day 0) and invade the endometrium to become endometrial cups. These specialized trophoblast cells transition from uninucleate to differentiated binucleate trophoblast cells that secrete the glycoprotein hormone equine chorionic gonadotropin (eCG; formerly known as pregnant mare serum gonadotropin or PMSG). This eCG has LH-like activity in the horse but variable LH- and FSH-like activity in other species and has been utilized for these properties both in...
Novel equid papillomavirus from domestic donkey.
Equine veterinary journal    May 28, 2023   doi: 10.1111/evj.13957
Ikechukwu CK, Qin K, Zhang H, Pan J, Zhang W.Papillomaviruses can be of great medical importance as they infect humans and animals such as Equus species, other livestock and pets. They are responsible for several papillomas and benign tumours in their host. Objective: To describe a novel equid papillomavirus detected in oral swab samples collected from donkeys (Equus asinus) found on the Northwest plateau of China. Methods: Cross-sectional. Methods: Swab samples collected from the oral mucosa of 32 donkeys in the Gansu Province of China, were subjected to viral metagenomic analysis to detect the presence of Papillomavirus. After de novo ...
What is Equine Science?
Journal of equine veterinary science    May 27, 2023   Volume 124 104302 doi: 10.1016/j.jevs.2023.104302
Pratt-Phillips S, Williams C, Harris P.No abstract available
The Past, Present, and Future of Equine Science.
Journal of equine veterinary science    May 27, 2023   Volume 124 104297 doi: 10.1016/j.jevs.2023.104297
White-Springer SH, Bruemmer J, Coleman RJ.A core group of 27 equine nutritionists and physiologists joined together in the late 1960s to formally address and enhance the direction of equine research, creating the Equine Nutrition and Physiology Society. In 2003, that growing society transformed into the Equine Science Society, which now serves as the preeminent, internationally recognized scientific equine organization. In recent years, it has been appreciated that equine science encompasses a wide range of focus areas, including exercise science, nutrition, genetics, reproductive physiology, teaching and extension, production and man...
Equine Endocrine Disease: Challenges With Case Definition for Research.
Journal of equine veterinary science    May 27, 2023   Volume 124 104491 doi: 10.1016/j.jevs.2023.104491
McGowan CM, Ireland JL.Equine endocrine disease is an important area for equine research, requiring an appropriate case definition for inclusion and criteria for exclusion from disease. Defining a case for research may be different from criteria for clinical diagnosis. Further, clinical diagnosis recommendations have been changing regularly, making this area challenging for equine scientists. This review discusses the diagnosis of major equine endocrine diseases, pituitary pars intermedia dysfunction, equine metabolic syndrome and insulin dysregulation, focusing on the most appropriate diagnostic methods for researc...
Adaptive Response of Estrogen-Iron Axis in Pregnant Purebred Spanish Mares of Different Age.
Journal of equine veterinary science    May 27, 2023   Volume 127 104827 doi: 10.1016/j.jevs.2023.104827
Satué K, Fazio E, La Fauci D, Bruschetta G, Medica P.The maintenance of iron (Fe) homeostasis is vital for the physiological function along life. In sexually mature humans and experimental animals, estrogens downregulate hepcidin (Hpc) expression, in order to improve the intestinal absorption and to mobilize Fe stores for maternal erythropoietic expansion and placental development. However, changes of these mechanisms related to regulation of Hpc on the availability of Fe during gestation with advancing age in mares, remain unknown. The objective of this study was to evaluate the interrelationships between serum Fe, Ferritin (Ferr) and Hpc with ...
Genetic improvement of speed across distance categories in thoroughbred racehorses in Great Britain.
Heredity    May 27, 2023   Volume 131, Issue 1 79-85 doi: 10.1038/s41437-023-00623-8
Sharman P, Wilson AJ.Several studies over recent decades have reported a lack of contemporary improvement in thoroughbred racehorse speed, despite apparent additive genetic variance and putatively strong selection. More recently, it has been shown that some phenotypic improvement is ongoing, but rates are low in general and particularly so over longer distances. Here we used pedigree-based analysis of 692,534 records from 76,960 animals to determine whether these phenotypic trends are underpinned by genetic selection responses, and to evaluate the potential for more rapid improvement. We show that thoroughbred spe...