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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.
Impact of inbreeding and genetic parameter estimates for seminal traits in Lusitano horses.
Theriogenology    May 27, 2023   Volume 208 43-51 doi: 10.1016/j.theriogenology.2023.05.011
Gonçalves AR, Telo da Gama L, Antunes L, Guimarães H, Bliebernicht M, Duarte JC, Cosinha C, Duarte Rego B, Ferro da Costa P, Guimarães T, Rocha A....The objectives of this study were to establish baseline information for seminal traits in Lusitano stallions, to assess the impact of inbreeding, interval between collections and age on semen quality during the breeding and non-breeding seasons, and to estimate the corresponding genetic parameters. A total of 2129 ejaculates by 146 Lusitano stallions used for artificial insemination, obtained from four equine reproduction centers distributed throughout Portugal, over a period of 14 years (2008-2021), were included in the study. The seminal traits analyzed, and the corresponding means and stand...
Association of myostatin gene polymorphism with echocardiographic and muscular ultrasonographic measurements in Hungarian thoroughbreds horses.
Research in veterinary science    May 26, 2023   Volume 160 45-49 doi: 10.1016/j.rvsc.2023.05.009
Kis J, Rózsa L, Husvéth F, Mezőszentgyörgyi D, Kovács S, Bakos Z, Zsolnai A, Anton I.The g.66493737C/T polymorphism of the myostatin gene (MSTN) majorly influences muscle fiber composition and best race distance of Thoroughbreds. Thus, a better understanding of this process may lead to superior genetic exploitation for maximizing Thoroughbred athletic potential. Our objective is to investigate whether myostatin genotypes are associated with muscular development and cardiac variables of Thoroughbreds. Echocardiography and muscular ultrasonography were performed on three groups having C/C, C/T, and T/T genotypes, respectively. Each group consisted of 22 animals. Homogeneity of v...
Horse and donkey parasitology: differences and analogies for a correct diagnostic and management of major helminth infections.
Parasitology    May 24, 2023   1-20 doi: 10.1017/S0031182023000525
Buono F, Veneziano V, Veronesi F, Molento MB.In June 2022, at the XXXII Conference of the Italian Society of Parasitology, the parallels of the main endoparasitic infections of horses and donkeys were discussed. Although these 2 species are genetically different, they can be challenged by a similar range of parasites (i.e. small and large strongyles, and spp.). Although equids can demonstrate some level of resilience to parasites, they have quite distinct helminth biodiversity, distribution and intensity among different geographical locations and breeds. Heavily infected donkeys may show fewer clinical signs than horses. Although parasi...
Genomic association using principal components of morphometric traits in horses: identification of genes related to bone growth.
Animal biotechnology    May 15, 2023   1-6 doi: 10.1080/10495398.2023.2209795
Bastos MS, Solar Diaz IDP, Alves JS, de Oliveira LSM, de Araújo de Oliveira CA, de Godói FN, de Camargo GMF, Costa RB.The measurement of morphometric traits in horses is important for determining breed qualification and is one of the main selection criteria for the species. The development of an index (HPC) that consists of principal components weighted by additive genetic values allows to explore the most relevant relationships using a reduced number of variables that explain the greatest amount of variation in the data. Genome-wide association studies (GWAS) using HPC are a relatively new approach that permits to identify regions related to a set of traits. The aim of this study was to perform GWAS using HP...
5’UTR Variant in KIT Associated With White Spotting in Horses.
Journal of equine veterinary science    May 12, 2023   Volume 127 104563 doi: 10.1016/j.jevs.2023.104563
McFadden A, Martin K, Foster G, Vierra M, Lundquist EW, Everts RE, Martin E, Volz E, McLoone K, Brooks SA, Lafayette C.Mutations in KIT, a gene that influences melanoblast migration and pigmentation, often result in mammalian white spotting. As of February 2023, over 30 KIT variants associated with white spotting were documented in Equus caballus (horse). Here we report an association of increased white spotting on the skin and coat with a variant in the 5'UTR of KIT (rs1149701677: g.79,618,649A>C). Horses possessing at least one alternate allele demonstrate phenotypic characteristics similar to other KIT mutations: clear borders around unpigmented regions on the body, face, and limbs. Using a quantitative ...
Hepcidin, ferritin and iron homeostasis in pregnant Spanish Purebred mares.
Theriogenology    May 11, 2023   Volume 206 78-86 doi: 10.1016/j.theriogenology.2023.05.008
Satué K, Fazio E, Cravana C, Medica P.During pregnancy, maternal erythropoietic expansion and fetal development require greater mobilization of available iron (Fe) stores. These adjustments in Fe metabolism in humans and rodents are largely mediated by the hormone hepcidin (Hepc), which controls the expression of ferroportin (Fpn), a transporter responsible for exporting Fe from stores to extracellular fluid and plasma. These mechanisms based on the regulation of Hepc on the availability of Fe during gestation in healthy mares remain unknown. The objective of this study was to determine the existence of interrelationships among co...
A new set of WAVD guidelines in the collection: The first evidence-based guidelines on allergic skin disease of horses.
Veterinary dermatology    May 8, 2023   Volume 34, Issue 3 173-174 doi: 10.1111/vde.13167
Paterson S.No abstract available
Identification and characterization of single nucleotide polymorphisms in DMRT3 gene in Indian horse (Equus caballus) and donkey (Equus asinus) populations.
Animal biotechnology    May 7, 2023   1-11 doi: 10.1080/10495398.2023.2206866
Bhardwaj A, Nayan V, Legha RA, Bhattacharya TK, Pal Y, Giri SK.Equines' ability in racing and riding as well as gaitedness have influenced the human civilization. Aim of this study was to identify and characterize the novel polymorphisms or SNPs in gene in Indian horse and donkey breeds. In this study, the gene was sequenced and characterized in 72 Indian horses' and 33 Indian donkeys' samples. One SNP (A > C) at 878 was found in studied horses while identical SNPs (A > C) at two different nucleotide positions i.e., 878 and 942 in gene (chromosome 23) were observed in studied Indian donkey breeds. Horses and donkeys both have a non-synony...
Evaluation of an HMGA2 variant contribution to height and basal insulin concentrations in ponies.
Journal of veterinary internal medicine    May 6, 2023   Volume 37, Issue 3 1186-1192 doi: 10.1111/jvim.16723
Clark BL, Bamford NJ, Stewart AJ, McCue ME, Rendahl A, Bailey SR, Bertin FR, Norton EM.The HMGA2:c.83G>A variant was identified in Welsh ponies having pleiotropic effects on height and insulin concentration. Objective: Determine whether the HMGA2:c.83G>A variant is associated with decreased height and higher basal insulin concentrations across pony breeds. Methods: Two hundred thirty-six ponies across 6 breeds. Methods: Cross-sectional study. Ponies were genotyped for the HMGA2:c.83G>A variant and phenotyped for height and basal insulin concentrations. Stepwise regression was performed for model analysis using a linear regression model for height and mixed linear model ...
Comparison of muscle metabolomics between two Chinese horse breeds.
Frontiers in veterinary science    May 5, 2023   Volume 10 1162953 doi: 10.3389/fvets.2023.1162953
Meng S, Zhang Y, Lv S, Zhang Z, Liu X, Jiang L.With their enormous muscle mass and athletic ability, horses are well-positioned as model organisms for understanding muscle metabolism. There are two different types of horse breeds-Guanzhong (GZ) horses, an athletic breed with a larger body height (~148.7 cm), and the Ningqiang pony (NQ) horses, a lower height breed generally used for ornamental purposes-both inhabited in the same region of China with obvious differences in muscle content. The main objective of this study was to evaluate the breed-specific mechanisms controlling muscle metabolism. In this study, we observed muscle glycogen, ...
The use of shotgun label-free quantitative proteomic mass spectrometry to evaluate the inflammatory response in aqueous humor from horses with uveitis compared to ophthalmologically healthy horses.
Veterinary ophthalmology    May 5, 2023   doi: 10.1111/vop.13107
Terhaar HM, Henriksen ML, Mehaffy C, Hess A, McMullen RJ.The objective of this study was to use shotgun label-free tandem mass spectrometry (LF-MS/MS) to evaluate aqueous humor (AH) from horses with uveitis (UH) compared to ophthalmologically healthy horses (HH). Methods: Twelve horses diagnosed with uveitis based on ophthalmic examination and six ophthalmologically healthy horses (postmortem) purchased for teaching purposes. Methods: All horses received a complete ophthalmic examination and physical exam. Aqueous paracentesis was performed on all horses and AH total protein concentrations were measured with nanodrop (TPn) and refractometry (TPr). A...
Juvenile idiopathic epilepsy in Arabian horses is not a single-gene disorder.
The Journal of heredity    May 5, 2023   Volume 114, Issue 5 488-491 doi: 10.1093/jhered/esad029
Ciosek J, Kimes A, Vinardell T, Miller DC, Antczak DF, Brooks S.Valued for their temperament, beauty, athletic ability, and exhibition in the show ring, Arabian horses are an important component of the horse industry. Juvenile idiopathic epilepsy (JIE), a seizure disorder, is most often reported in Arabian foals from birth to 6 months of age. Affected foals exhibit tonic-clonic seizures lasting as long as 5 min and risking secondary complications like temporary blindness and disorientation. Some foals outgrow this condition, while others die or suffer lifelong complications if not treated. Previous work suggested a strong genetic component to JIE and propo...
Cryptosporidium equi n. sp. (Apicomplexa: Cryptosporidiidae): Biological and genetic characterisations.
International journal for parasitology    May 5, 2023   Volume 53, Issue 10 545-554 doi: 10.1016/j.ijpara.2023.02.008
Huang J, Chen M, He Y, Chen H, Huang M, Li N, Ryan U, Kváč M, Feng Y, Xiao L, Guo Y.The horse genotype is one of three common Cryptosporidium spp. in equine animals and has been identified in some human cases. The species status of Cryptosporidium horse genotype remains unclear due to the lack of extensive morphological, biological, and genetic data. In the present study, we have conducted biological and whole genome sequence analyses of an isolate of the genotype from hedgehogs and proposed to name it Cryptosporidium equi n. sp. to reflect its common occurrence in equine animals. Oocysts of C. equi measured 5.12 ± 0.36 μm × 4.46 ± 0.21 μm with a shape index of 1...
Prevalence and genetic diversity of Theileria equi from horses in Xinjiang Uygur Autonomous region, China.
Ticks and tick-borne diseases    May 5, 2023   Volume 14, Issue 4 102193 doi: 10.1016/j.ttbdis.2023.102193
Zhang Y, Shi Q, Laven R, Li C, He W, Zheng H, Liu S, Lu M, Yang DA, Guo Q, Chahan B.Theileria equi is a tick-borne intracellular apicomplexan protozoan parasite that causes equine theileriosis (ET). ET is an economically important disease with a worldwide distribution that significantly impacts international horse movement. Horses are an essential part of the economy in Xinjiang which is home to ∼10% of all the horses in China. However, there is very limited information on the prevalence and genetic complexity of T. equi in this region. Blood samples from 302 horses were collected from May to September 2021 in Ili, Xinjiang, and subjected to PCR examination for the presence...
Genome-wide single-nucleotide polymorphism data and mitochondrial hypervariable region 1 nucleotide sequence reveal the origin of the Akhal-Teke horse.
Animal bioscience    May 4, 2023   Volume 36, Issue 10 1499-1507 doi: 10.5713/ab.23.0044
Kang Z, Shi J, Liu T, Zhang Y, Zhang Q, Liu Z, Wang J, Cheng S.The study investigated the origin of the Akhal-Teke horse using genome-wide single-nucleotide polymorphism (SNP) data and mitochondrial hypervariable region 1 (HVR-1) nucleotide sequences. Methods: Genome-wide SNP data from 22 breeds (481 horses) and mitochondrial HVR-1 sequences from 24 breeds (544 sequences) worldwide to examine the origin of the Akhal- Teke horse. The data were analyzed using principal component analysis, linkage disequilibrium analysis, neighbor-joining dendrograms, and ancestry inference to determine the population relationships, ancestral source, genetic structure, and r...
Characterization of the equine placental microbial population in healthy pregnancies.
Theriogenology    May 2, 2023   Volume 206 60-70 doi: 10.1016/j.theriogenology.2023.04.022
van Heule M, Monteiro HF, Bazzazan A, Scoggin K, Rolston M, El-Sheikh Ali H, Weimer BC, Ball B, Daels P, Dini P.In spite of controversy, recent studies present evidence that a microbiome is present in the human placenta. However, there is limited information about a potential equine placental microbiome. In the present study, we characterized the microbial population in the equine placenta (chorioallantois) of healthy prepartum (280 days of gestation, n = 6) and postpartum (immediately after foaling, 351 days of gestation, n = 11) mares, using 16S rDNA sequencing (rDNA-seq). In both groups, the majority of bacteria belonged to the phyla Proteobacteria, Firmicutes, Actinobacteria, and Bacteroidota. T...
Newly identified variability of the antigen binding site coding sequences of the equine major histocompatibility complex class I and class II genes.
HLA    April 27, 2023   Volume 102, Issue 4 489-500 doi: 10.1111/tan.15078
Plasil M, Oppelt J, Klumplerova M, Bubenikova J, Vychodilova L, Janova E, Stejskalova K, Futas J, Knoll A, Leblond A, Mihalca AD, Horin P.The major histocompatibility complex (MHC) with its class I and II genes plays a crucial role in the immune response to pathogens by presenting oligopeptide antigens to various immune response effector cells. In order to counteract the vast variability of infectious agents, MHC class I and II genes usually retain high levels of SNPs mainly concentrated in the exons encoding the antigen binding sites. The aim of the study was to reveal new variability of selected MHC genes with a special focus on MHC class I physical haplotypes. Long-range NGS to was used to identify exon 2-exon 3 alleles in th...
Cellular and Molecular Consequences of Stallion Sperm Cryopreservation: Recent Approaches to Improve Sperm Survival.
Journal of equine veterinary science    April 25, 2023   Volume 126 104499 doi: 10.1016/j.jevs.2023.104499
Contreras MJ, Arias ME, Fuentes F, Muñoz E, Bernecic N, Fair S, Felmer R.Cryopreservation of stallion semen does not achieve the post-thaw quality or fertility results observed in other species like cattle. There are many reasons for this, but the membrane composition and intracellular changes in stallion sperm predispose them to low resistance to the cooling, freezing, and subsequent thawing process. Damage to the sperm results from different processes activated during cryopreservation, including oxidative stress, apoptosis, and structural modifications in the sperm membrane that increase the deleterious effect on sperm. In addition, significant individual variabi...
SNP-Based Heritability of Osteochondrosis Dissecans in Hanoverian Warmblood Horses.
Animals : an open access journal from MDPI    April 25, 2023   Volume 13, Issue 9 doi: 10.3390/ani13091462
Zimmermann E, Distl O.Before the genomics era, heritability estimates were performed using pedigree data. Data collection for pedigree analysis is time consuming and holds the risk of incorrect or incomplete data. With the availability of SNP-based arrays, heritability can now be estimated based on genotyping data. We used SNP array and 1.6 million imputed genotype data with different minor allele frequency restrictions to estimate heritabilities for osteochondrosis dissecans in the fetlock, hock and stifle joints of 446 Hanoverian warmblood horses. SNP-based heritabilities were estimated using a genomic restricted...
Interplay Among the Daily Rhythm of the Thyroid Hormones, Uncoupling Protein 1 and the Clock Gene Per2 in Horses.
Journal of equine veterinary science    April 21, 2023   Volume 126 104496 doi: 10.1016/j.jevs.2023.104496
During husbandry, domestic animals are exposed to many factors that can influence their circadian physiology organization leading to an increase in animals' discomfort. Thermal homeostasis is at the basis of animal wellness, the aim of the present study was to investigate the daily fluctuation of serum concentrations of 3,5,3'-triiodothyronine (T3) and thyroxine (T4) in association with the daily fluctuation of uncoupling protein 1 (UCP1) and clock gene Per2 in healthy horses housed in individual box, to improve the knowledge on this matter. Seven clinically healthy female Italian Saddle horse...
Equine Gram-Negative Oral Microbiota: An Antimicrobial Resistances Watcher?
Antibiotics (Basel, Switzerland)    April 21, 2023   Volume 12, Issue 4 792 doi: 10.3390/antibiotics12040792
Pimenta J, Pinto AR, Saavedra MJ, Cotovio M.Horses are considered as reservoirs of multidrug resistant bacteria that can be spread through the environment and possibly to humans. The aim of this study was to characterize the oral Gram-negative microbiota of healthy horses and evaluate their antimicrobial susceptibility profile in a One Health approach. For this purpose, samples were collected from the gingival margin of healthy horses, free of antimicrobial therapy, cultured in selective mediums, identified, and tested for antimicrobial susceptibility. Fifty-five Gram-negative isolates were identified, with 89.5% being zoonotic and 62% ...
A multiplex qPCR assay for transgenes detection: A novel approach for gene doping control in horseracing using conventional laboratory setup.
Drug testing and analysis    April 19, 2023   Volume 15, Issue 8 879-888 doi: 10.1002/dta.3483
Wong KS, Cheung HW, Szeto CWL, Tsang CYN, Wan TSM, Ho ENM.Illicit administration of transgene into horses is a form of gene doping that has been a key concern in equine sports. The large number of potential performance-enhancing transgenes has demanded a cost-effective and reliable detection method. Multiplex qPCR is a relevant technique, but the cross-talking between fluorophores and high background noise limits the method sensitivity and specificity. This study reports a simpler multiplexing approach by using the same fluorophore for four hydrolysis probes each targeting one of the four transgenes: human growth hormone, insulin-like growth factor 1...
Multilineage Differentiation Potential of Equine Adipose-Derived Stromal/Stem Cells from Different Sources.
Animals : an open access journal from MDPI    April 15, 2023   Volume 13, Issue 8 1352 doi: 10.3390/ani13081352
Stage HJ, Trappe S, Söllig K, Trachsel DS, Kirsch K, Zieger C, Merle R, Aschenbach JR, Gehlen H.The investigation of multipotent stem/stromal cells (MSCs) in vitro represents an important basis for translational studies in large animal models. The study's aim was to examine and compare clinically relevant in vitro properties of equine MSCs, which were isolated from abdominal (abd), retrobulbar (rb) and subcutaneous (sc) adipose tissue by collagenase digestion (ASCs-) and an explant technique (ASCs-). Firstly, we examined proliferation and trilineage differentiation and, secondly, the cardiomyogenic differentiation potential using activin A, bone morphogenetic protein-4 and Dickkopf-1. Fi...
Water stabilizes an alternate turn conformation in horse heart myoglobin.
Scientific reports    April 13, 2023   Volume 13, Issue 1 6094 doi: 10.1038/s41598-023-32821-z
Bronstein A, Marx A.Comparison of myoglobin structures reveals that protein isolated from horse heart consistently adopts an alternate turn conformation in comparison to its homologues. Analysis of hundreds of high-resolution structures discounts crystallization conditions or the surrounding amino acid protein environment as explaining this difference, that is also not captured by the AlphaFold prediction. Rather, a water molecule is identified as stabilizing the conformation in the horse heart structure, which immediately reverts to the whale conformation in molecular dynamics simulations excluding that structur...
Tracking the Source of Human Q Fever from a Southern French Village: Sentinel Animals and Environmental Reservoir.
Microorganisms    April 13, 2023   Volume 11, Issue 4 1016 doi: 10.3390/microorganisms11041016
Laidoudi Y, Rousset E, Dessimoulie AS, Prigent M, Raptopoulo A, Huteau Q, Chabbert E, Navarro C, Fournier PE, Davoust B., also known as the causal agent of Q fever, is a zoonotic pathogen infecting humans and several animal species. Here, we investigated the epidemiological context of from an area in the Hérault department in southern France, using the One Health paradigm. In total, 13 human cases of Q fever were diagnosed over the last three years in an area comprising four villages. Serological and molecular investigations conducted on the representative animal population, as well as wind data, indicated that some of the recent cases are likely to have originated from a sheepfold, which revealed bacterial c...
Direct and culture-enriched 16S rRNA sequencing of cecal content of healthy horses and horses with typhlocolitis.
PloS one    April 13, 2023   Volume 18, Issue 4 e0284193 doi: 10.1371/journal.pone.0284193
Zakia LS, Gomez DE, Caddey BB, Boerlin P, Surette MG, Arroyo LG.Next generation sequencing has demonstrated that alpha diversity of the fecal microbiota is significantly altered in horses with typhlocolitis. The objective of this study was to evaluate the bacterial composition of the cecum content of horses with and without typhlocolitis through direct and culture-enriched 16S gene sequencing of six healthy horses and six horses with acute typhlocolitis; a case-control study design. Cecal content was collected after euthanasia. An aliquot was used for direct 16S gene sequencing. Another was serially diluted with brain heart infusion (BHI) and plated onto f...
Dynamics of the Equine Placental DNA Methylome and Transcriptome from Mid- to Late Gestation.
International journal of molecular sciences    April 11, 2023   Volume 24, Issue 8 7084 doi: 10.3390/ijms24087084
Orellana-Guerrero D, Uribe-Salazar JM, El-Sheikh Ali H, Scoggin KE, Ball B, Daels P, Finno CJ, Dini P.The placenta is a temporary organ that is essential for the survival of the fetus, with a lifelong effect on the health of both the offspring and the dam. The functions of the placenta are controlled by its dynamic gene expression during gestation. In this study, we aimed to investigate the equine placental DNA methylome as one of the fundamental mechanisms that controls the gene expression dynamic. Chorioallantois samples from four (4M), six (6M), and ten (10M) months of gestation were used to map the methylation pattern of the placenta. Globally, methylation levels increased toward the end o...
Molecular Identification of Culicoides Species and Host Preference Blood Meal in the African Horse Sickness Outbreak-Affected Area in Hua Hin District, Prachuap Khiri Khan Province, Thailand.
Insects    April 8, 2023   Volume 14, Issue 4 doi: 10.3390/insects14040369
Kamyingkird K, Choocherd S, Chimnoi W, Klinkaew N, Kengradomkij C, Phoosangwalthong P, Thammasonthijarern N, Pattanatanang K, Inpankaew T, Phasuk J....African horse sickness (AHS) was reported as an outbreak in Thailand in 2020. Hematophagous insects from the genus Culicoides are the suspected vector responsible for AHS transmission. Horses in Hua Hin district, Prachuab Khiri Khan province, Thailand, were affected and died from AHS in 2020. However, the potential Culicoides species and its host preference blood meal in the affected areas are unknown. To investigate the potential vectors of AHS, Culicoides were collected using ultraviolet light traps placed near horse stables. Six horse farms, including five farms with AHS history and one far...
Effects of concentrated fecal microbiota transplant on the equine fecal microbiota after antibiotic-induced dysbiosis. Di Pietro R, Arroyo LG, Leclere M, Costa M.Bacterial imbalances are observed in intestinal diseases and fecal microbiota transplantation (FMT) has been used to restore the intestinal microbiota of horses. However, there is evidence that the current methods proposed for FMT in horses have limited efficacy. The objective of this study was to concentrate the bacteria present in the donor stool by centrifugation, and to test the effect in horses with antibiotic-induced dysbiosis. One healthy 11-year-old horse was selected as a fecal donor and 9 horses were given trimethoprim sulfadiazine (TMS) for 5 days to induce dysbiosis. Horses receive...
Species-specific molecular differentiation of embryonic inner cell mass and trophectoderm: A systematic review.
Animal reproduction science    April 6, 2023   Volume 252 107229 doi: 10.1016/j.anireprosci.2023.107229
Marsico TV, Valente RS, Annes K, Oliveira AM, Silva MV, Sudano MJ.A wide-ranging review study regarding the molecular characterization of the first cell lineages of the developmental embryo is lacking, especially for the primary events during earliest differentiation which leads to the determination of cellular fate. Here, a systematic review and meta-analysis were conducted according to PRISMA guidelines. MEDLINE-PubMed was searched based on an established search strategy through April 2021. Thirty-six studies fulfilling the inclusion criteria were subjected to qualitative and quantitative analysis. Among the studies, 50 % (18/36) used mice as an animal mod...