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Topic:Genomics

Genomics in horses involves the study and analysis of the horse genome to understand genetic variations and their implications for equine health, performance, and breeding. This field encompasses the identification and mapping of genes associated with specific traits, diseases, and conditions in horses. Techniques such as whole-genome sequencing and genome-wide association studies (GWAS) are employed to explore genetic diversity and inheritance patterns among different horse breeds. Genomics provides insights into hereditary disorders, informs selective breeding practices, and aids in the development of personalized veterinary care. This page compiles peer-reviewed research studies and scholarly articles that explore the applications, methodologies, and findings of genomic research in equine science.
Genetic influence of a STAU2 frameshift mutation and RELN regulatory elements on performance in Icelandic horses.
Scientific reports    April 4, 2025   Volume 15, Issue 1 11641 doi: 10.1038/s41598-025-95593-8
Sigurðardóttir H, Eriksson S, Niazi A, Rhodin M, Albertsdóttir E, Kristjansson T, Lindgren G.Selection for performance in horse breeding benefits from precise genetic insights at a molecular level, but knowledge remains limited. This study used whole-genome sequences of 39 elite and non-elite Icelandic horses to identify candidate causal variants linked to previously identified haplotypes in the STAU2 and RELN genes affecting pace and other gaits. A frameshift variant in linkage disequilibrium with the previously identified haplotypes in the STAU2 gene (r2 = 0.85) was identified within a predicted STAU2 transcript. This variant alters the amino acid sequence and introduces a prema...
Expert commentary on HORSE/MITO18 and CHIPOR.
Journal of gynecologic oncology    April 1, 2025   Volume 36, Issue 2 e87 doi: 10.3802/jgo.2025.36.e87
Karabeg E, Harter P.No abstract available
Identification of key genes in immune-response post-endurance run in horses.
Journal of equine veterinary science    March 31, 2025   Volume 149 105418 doi: 10.1016/j.jevs.2025.105418
Akçay S, Gurkok-Tan T, Ekici S.Intense physical activity in endurance horses triggers complex immune and inflammatory responses, yet the molecular mechanisms underlying these adaptations remain unclear. This study investigated immune-related transcriptomic changes following a 160 km endurance ride, focusing on sex-based differences. Using a bioinformatics approach, differentially expressed genes (DEGs), pathways, microRNAs (miRNAs), and transcription factors (TFs) were analyzed before (T0) and after (T1) the ride. A protein-protein interaction (PPI) analysis was conducted to identify key regulatory genes. Pathway enrichment...
Running a genetic stop sign accelerates oxygen metabolism and energy production in horses.
Science (New York, N.Y.)    March 28, 2025   Volume 387, Issue 6741 eadr8589 doi: 10.1126/science.adr8589
Castiglione GM, Chen X, Xu Z, Dbouk NH, Bose AA, Carmona-Berrio D, Chi EE, Zhou L, Boronina TN, Cole RN, Wu S, Liu AD, Liu TD, Lu H, Kalbfleisch T....Horses are among nature's greatest athletes, yet the ancestral molecular adaptations fueling their energy demands are poorly understood. Within a clinically important pathway regulating redox and metabolic homeostasis (NRF2/KEAP1), we discovered an ancient mutation-conserved in all extant equids-that increases mitochondrial respiration while decreasing tissue-damaging oxidative stress. This mutation is a de novo premature opal stop codon in KEAP1 that is translationally recoded into a cysteine through previously unknown mechanisms, producing an R15C mutation in KEAP1 that is more sensitive to ...
Progressive evolution of Streptococcus equi from Streptococcus equi subsp. zooepidemicus and adaption to equine hosts.
Microbial genomics    March 28, 2025   Volume 11, Issue 3 doi: 10.1099/mgen.0.001366
Wilson HJ, Dong J, van Tonder AJ, Ruis C, Lefrancq N, McGlennon A, Bustos C, Frosth S, Léon A, Blanchard AM, Holden M, Waller AS, Parkhill J. subsp. causes the equine respiratory disease 'strangles', which is highly contagious, debilitating and costly to the equine industry. emerged from the ancestral subsp. and continues to evolve and disseminate globally. Previous work has shown that there was a global population replacement around the beginning of the twentieth century, obscuring the early genetic events in this emergence. Here, we have used large-scale genomic analysis of and its ancestor to identify evolutionary events, leading to the successful expansion of . One thousand two hundred one whole-genome sequences of were ...
Genetic characteristics of local horse breeds by microsatellite DNA loci.
Vavilovskii zhurnal genetiki i selektsii    March 27, 2025   Volume 29, Issue 1 113-121 doi: 10.18699/vjgb-25-13
Blohina NV, Khrabrova LA.Russia has a significant pedigree diversity of horse breeds with unique gene pools that are well adapted to a wide variety of harsh natural and climatic conditions, are characterized by universal performance and high productive qualities, and are of significant interest to the world horse breeding. Genetic studies of population diversity in horse breeding are very relevant, since many domestic horse breeds are under threat of extinction. Biomaterials (hair, blood, semen) from horses of 15 local breeds bred in the Russian Federation and neighboring countries (CIS) were selected for the research...
Genomic insights into the genetic diversity and genetic basis of body height in endangered Chinese Ningqiang ponies.
BMC genomics    March 24, 2025   Volume 26, Issue 1 292 doi: 10.1186/s12864-025-11484-2
Han J, Shao H, Sun M, Gao F, Hu Q, Yang G, Jafari H, Li N, Dang R.Genetic diversity in livestock and poultry is critical for adapting production systems to future challenges. However, inadequate management practices, particularly in developing countries, have led to the extinction or near extinction of several species. Understanding the genetic composition and historical background of local breeds is essential for their effective conservation and sustainable use. This study compared the genomes of 30 newly sequenced Ningqiang ponies with those of 56 other ponies and 104 horses to investigate genetic diversity, genetic differentiation, and the genetic basis o...
Retrospective investigation of 43 necropsy cases of Tyzzer disease in foals and partial genome sequence of Clostridium piliforme by shotgun metagenomics.
Veterinary microbiology    March 22, 2025   Volume 304 110489 doi: 10.1016/j.vetmic.2025.110489
Uprety T, Swan M, Kennedy L, Bryant U, Cassone L, Loynachan A, Janes J, Evely MM, Calvaruso FC, Quick M, Morgan J, Abdelrazek S, Lahmers K, Carter C....Clostridium piliforme is an obligate intracellular filamentous bacterium that causes Tyzzer disease (TD) in many animals. The disease manifests as severe, multifocal necrotizing hepatitis, with a high fatality rate in foals. Through retrospective investigation, we detected C. piliforme in 43 equine necropsy cases from 2012 to 2024. Positive cases were diagnosed from February to July, peaking in May. The age of affected foals ranged from 4 days to 2 months. Histologically, all cases had necrotizing hepatitis with multifocal, coalescing pinpoint, tan or reddish foci. Since only a partial 16S rRN...
Three Novel KIT Polymorphisms Found in Horses with White Coat Color Phenotypes.
Animals : an open access journal from MDPI    March 22, 2025   Volume 15, Issue 7 doi: 10.3390/ani15070915
Obradovic NA, McFadden A, Martin K, Vierra M, McLoone K, Martin E, Thomas A, Everts RE, Brooks SA, Lafayette C.This paper reports three novel KIT variants likely responsible for previously unexplained white patterning phenotypes observed in three groups of horses. White spots and markings may have substantial consequences on the value and health of domesticated horses. This study aims to elucidate the genetic mechanisms underlying depigmented coat colors to aid in producing prosperous herds. Aligned whole genome sequences were manually screened to identify three polymorphisms in a family of Anglo-Arabian horses (N = 7), a family of Warmblood horses (N = 5), and a single stock-type mare with unexplained...
How Nutrigenomics Impacts Equine Health – A Case Study of Vitamin E.
Journal of equine veterinary science    March 21, 2025   105421 doi: 10.1016/j.jevs.2025.105421
Finno CJ.Nutrigenomics defines the interaction between the nutrients in our food and the genes in our body. Examples from human medicine of diseases and associated genes include lactose intolerance (genetic variants in LCT lactase), hypercholesteremia (low density lipoprotein receptor, LDLR) and caffeine sensitivity (adenosine A2A receptor, ADORA2A). In horses, examples include Hyperkalemic Periodic Paralysis (HYPP), where clinical signs of disease are managed through maintaining a diet low in potassium and Polysaccharide Storage Myopathy Type 1 (PSSM1), where low starch and high fat diets are recommen...
A Systematic Literature Review of Mitochondrial DNA Analysis for Horse Genetic Diversity.
Animals : an open access journal from MDPI    March 20, 2025   Volume 15, Issue 6 885 doi: 10.3390/ani15060885
Agbani A, Aminou O, Machmoum M, Germot A, Badaoui B, Petit D, Piro M.This Systematic Literature Review (SLR) consolidates current research on mitochondrial DNA (mtDNA) analysis in horses, focusing on genetic variation, maternal lineage tracing, and haplogroup identification. The article selection process screened 1380 articles, with 76 fulfilling the inclusion criteria. Data extraction covered sampling techniques, studied mtDNA regions, sequencing methods, and haplogroup identification. Following the methodology of the PRISMA guidelines, this review encompasses studies published since 2012, obtained from Scopus, PubMed, Research4Life, Web of Science, and Scienc...
Exploration of the Differential Expression Patterns of Immunoglobulin Heavy Chain Genes in Horses and Donkeys.
Developmental and comparative immunology    March 18, 2025   105360 doi: 10.1016/j.dci.2025.105360
Qiu Y, Jiang J, Yi X, Wang S, Sun X.This study investigated the immunoglobulins (IG) gene locus structure and expression diversity in local Chinese horse and donkey breeds, including Ningqiang, Guanzhong horses, and varieties such as Guanzhong, Jiami, and Northern Shaanxi donkey using genome alignment and high-throughput sequencing. The aim was to expand understanding of IG expression patterns in horses, donkeys, and their different breeds. The results revealed that the donkey IGH locus contains 117 VH genes (23 functional), 44 DH genes, and 8 JH genes, arranged in a VH-DH-JH sequence on chromosome 7, spanning approximately 1189...
Genomic Patterns of Homozygosity and Genetic Diversity in the Rhenish German Draught Horse.
Genes    March 11, 2025   Volume 16, Issue 3 327 doi: 10.3390/genes16030327
Sievers J, Distl O.The Rhenish German draught horse is an endangered German horse breed, originally used as working horse in agriculture. Therefore, the objective of this study was to evaluate the breed's genetic diversity using pedigree and genomic data in order to analyze classical and ancestral pedigree-based inbreeding, runs of homozygosity, ROH islands, and consensus ROH. Methods: We studied the genome-wide genotype data of 675 Rhenish German draught horses and collated pedigree-based inbreeding coefficients for these horses. The final dataset contained 64,737 autosomal SNPs. Results: The average number of ...
Genomic regions and candidate genes associated with forehead whorl positioning in Thoroughbred horses.
Journal of equine science    March 10, 2025   Volume 36, Issue 1 11-18 doi: 10.1294/jes.36.11
Yokomori T, Tozaki T, Segawa T, Itou T.Previous studies have examined the relationship between hair characteristics and temperament traits in various animals. A partial genetic association has been suggested in humans because whorl formation and neurological development occur simultaneously during the fetal period. In the horse industry, anecdotal evidence suggests a link between the forehead whorl position and temperament. In our previous study, the heritability of forehead whorl positioning was h=0.653, indicating significant genetic contributions in thoroughbreds. Therefore, in this study, we designed a genome-wide association s...
Regulatory Mechanisms of Yili Horses During an 80 km Race Based on Transcriptomics and Metabolomics Analyses.
International journal of molecular sciences    March 8, 2025   Volume 26, Issue 6 doi: 10.3390/ijms26062426
Wang J, Ren W, Li Z, Li L, Wang R, Ma S, Zeng Y, Meng J, Yao X.Equine endurance exercise induces physiological changes that alter metabolism and molecular pathways to maintain balance after intense physical activity. However, the specific regulatory mechanisms remain under debate. Identifying differentially expressed genes (DEGs) and differential metabolites (DMs) associated with equine endurance is essential for elucidating these regulatory mechanisms. This study collected blood samples from six Yili horses before and after an 80 km race and conducted transcriptomics and metabolomics analyses, yielding 722 DEGs and 256 DMs. These DEGs were primarily enri...
The Genomic Characterization of Equid Alphaherpesviruses: Structure, Function, and Genetic Similarity.
Veterinary sciences    March 3, 2025   Volume 12, Issue 3 228 doi: 10.3390/vetsci12030228
Liu D, Zhao X, Wang X.Equine herpesvirus 1 (EHV-1), EHV-4, EHV-8, and EHV-9, are classified within the subfamily and are recognized as causative agents of respiratory, urogenital, and neurological disorders in horses. These viruses, collectively referred to as αEHVs, exhibits both unique and shared characteristics in terms of host interaction, pathogenesis, epidemiology, and immune evasion, which arise from both the identities and discrepancies among respective genomic homologs. The genomic architecture of αEHVs is similar to other members of the same subfamily, such as well-known HSV-1, VZV, and PRV. However, r...
Annotation of cis-regulatory-associated histone modifications in the genomes of two Thoroughbred stallions.
Frontiers in genetics    February 27, 2025   Volume 16 1534461 doi: 10.3389/fgene.2025.1534461
Barber AM, Kingsley NB, Peng S, Giulotto E, Bellone RR, Finno CJ, Kalbfleisch T, Petersen JL.The Functional Annotation of Animal Genomes (FAANG) consortium aims to annotate animal genomes across species, and work in the horse has substantially contributed to that goal. As part of this initiative, chromatin immunoprecipitation with sequencing (ChIP-seq) was performed to identify histone modifications corresponding to enhancers (H3K4me1), promoters (H3K4me3), activators (H3K27ac), and repressors (H3K27me3) in eight tissues from two Thoroughbred stallions: adipose, parietal cortex, heart, lamina, liver, lung, skeletal muscle, and testis. The average genome coverage of peaks identified by...
Genomic Insights into Post-Domestication Expansion and Selection of Body Size in Ponies.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)    February 26, 2025   Volume 12, Issue 16 e2413023 doi: 10.1002/advs.202413023
Li X, Wang Z, Zhu M, Wang B, Teng S, Yan J, Wang H, Yuan P, Cao S, Qu X, Wang Z, Zhan K, Choudhury MP, Yang X, Bao Q, He S, Liu L, Zhao P, Jiang J....Horse domestication revolutionizes human civilization by transforming transportation, agriculture, and warfare patterns. Despite extensive studies on modern domestic horse origins, the intricate demographic history and genetic signatures underlying pony size remain unexplored. Here, a high-quality genome assembly of the Chinese Debao pony is presented, and 452 qualified individuals from 64 horse breeds worldwide are extensively analyzed. The authors' results reveal the conservation of ancient components in East Asian horses and close relationships between Asian horses and Western pony lineages...
Equus mitochondrial pangenome reveals independent domestication imprints in donkeys and horses.
Scientific reports    February 25, 2025   Volume 15, Issue 1 6803 doi: 10.1038/s41598-025-91564-1
Du W, Sun Q, Hu S, Yu P, Kan S, Zhang W.Mitochondria are semi-autonomous organelles that play a crucial role in the energy budget of animal cells and are closely related to the locomotor abilities of animals. Equidae is renowned for including two domesticated species with distinct purposes: the endurance-oriented donkey and the power-driven horse, making it an ideal system for studying the relationship between mitochondria and locomotor abilities. In this study, to cover the genetic diversity of donkeys, we sequenced and assembled six new mitochondrial genomes from China. Meanwhile, we downloaded the published mitochondrial genomes ...
The dynamics of gastrointestinal nematodes present in co-grazed host species kept in a Scottish zoological collection.
Veterinary parasitology, regional studies and reports    February 20, 2025   Volume 59 101227 doi: 10.1016/j.vprsr.2025.101227
Kelly RF, Galbraith E, Zahid O, Chaundhry U, Sargison N.Grazing animal species kept in zoological collections can be at risk of significant gastrointestinal nematode (GIN) infections. Little work has been undertaken to understand GIN species dynamics within co-grazed hosts. This study aimed to describe the species diversity of GINs found in faeces of grazing animals in a Scottish zoological collection. Methods: At a single time-point, freshly voided faecal samples were collected randomly from horses, sheep, goats, alpacas and deer. Faecal worm egg counts (FWECs) were conducted using a saturated saline centrifugal flotation cuvette technique. The ne...
A narrative review on MicroRNA’s role in diagnosis and therapy of equine endometritis.
Journal of reproductive immunology    February 19, 2025   Volume 169 104459 doi: 10.1016/j.jri.2025.104459
Asif S, Gulzar MW.Endometritis is a significant cause of infertility in mare. Some infectious agents disrupt the endometrium's innate immune system, resulting in a prolonged systemic inflammatory response that circulates via the blood or cellular degeneration, which ultimately leads to endometritis from bacterial endotoxins. Numerous biological processes use various small, non-coding RNA molecules called MicroRNAs. MicroRNAs (miRNAs) regulate gene expression after transcription by blocking transcription and translation. This manuscript examines patho-morphological discoveries in equine endometritis, the express...
A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis.
Animal genetics    February 16, 2025   Volume 56, Issue 1 e70004 doi: 10.1111/age.70004
van der Graaf L, Leigh W, Szmatoła T, Roberts K, Ryan S, Brown B, Van Buren S, Finno CJ, Petersen JL.Anhidrosis is defined as a decreased or absent ability to sweat in response to heat and exercise. In horses, this condition can increase the risk of life-threatening hyperthermia. A prior study has suggested that equine anhidrosis is associated with a missense variant (rs68643109) in the Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4 (KCNE4) gene. This project aimed to validate this association in a population of well-phenotyped horses and to determine the allele frequency of this variant in publicly available whole-genome sequence data. Fifty horses within the University of ...
Unveiling the equine placental transcriptome: A novel study on ICSI-derived pregnancies.
Theriogenology    February 16, 2025   Volume 237 120-128 doi: 10.1016/j.theriogenology.2025.02.013
Fedorka CE, Scoggin KE, Coleman SJ, Hatzel JN, Burleson MD, Troedsson MHT.Alterations during the early stages of embryo development have been associated with long-term effects on the fetus, neonate, and adult, but this has not been investigated in horses. In recent years, intracytoplasmic sperm injection (ICSI) has gained in commercial popularity in the equine population. Research suggests an association between ICSI-produced embryos and placental malformations, but there exists little understanding of the physiology involved. Therefore, we aim to produce a complete transcriptomic analysis of chorioallantois and provide potential pathways that may be impacted follow...
Sequencing and Assembling the Genome of Przewalski’s Horse in the Classroom.
Journal of equine veterinary science    February 15, 2025   105383 doi: 10.1016/j.jevs.2025.105383
Faulk C.Sequencing a genome by students has now become practical as we demonstrated with our recent publication of the Przewalski's horse (Equus ferus przewalskii) genome. In this review, I describe my experience teaching genome assembly in the classroom. In my course, students sequenced, assembled, and published a high-quality genome for Przewalski's horse using Oxford Nanopore long-read sequencing with only $4000 of materials. Along with the genome, we assembled the mitochondrial genome, sequence variants, predicted gene annotations, and DNA methylation levels. Our genome statistics far exceeded the...
Comparative phylogenetic and sequence identity analysis of internal transcribed spacer 2 and cytochrome C oxidase subunit I as DNA barcode markers for the most common equine Strongylidae species. Diekmann I, Krücken J, Kuzmina TA, Bredtmann CM, Louro M, Kharchenko VA, Tzelos T, Matthews JB, Madeira de Carvalho LM, von Samson-Himmelstjerna G.Morphologically, 64 strongylid species have been described in equines. Co-infections are common, with up to 29 species reported in a single horse. Morphological identification of these species is time consuming and requires expert knowledge due to their similar appearance. Therefore, non-invasive identification methods are needed. DNA barcoding offers a rapid and reliable tool for species identification and the discovery of cryptic species for these most common parasitic nematodes of equines. In total, 269 COI and 312 ITS-2 sequences from 27 equine Strongylidae species, including sequences fro...
Spatial transcriptomics defines the cell-specific RNA landscape of equine dorsal root ganglia.
Veterinary pathology    February 6, 2025   3009858241312623 doi: 10.1177/03009858241312623
Finno CJ, Rogers SL, Donnelly CG, Affolter VK, Woolard K, Miller AD, Bellone RR, Petersen JL.Equine spinal neurodegenerative conditions are frequently encountered in sport and racing horses and may be career-ending diagnoses. To further define the spatial transcriptomic landscape of equine dorsal root ganglia (DRG) in healthy adult horses, we investigated gene expression differences in distinct DRG regions using the GeoMx Digital Spatial Profiling from NanoString. Four human cell markers demonstrated high fidelity for equine cells; microtubule-associated protein 2 (MAP2), myelin basic protein (MBP), allograft inflammatory 104 factor 1/ionized calcium-binding adaptor molecule 1 (IBA1/A...
Molecular Diagnosis and Identification of Equine Piroplasms: Challenges and Insights from a Study in Northern Italy.
Animals : an open access journal from MDPI    February 5, 2025   Volume 15, Issue 3 437 doi: 10.3390/ani15030437
Facile V, Magliocca M, Dini FM, Imposimato I, Mariella J, Freccero F, Urbani L, Rinnovati R, Sel E, Gallina L, Castagnetti C, Galuppi R, Battilani M....Equine piroplasmosis is a tick-borne disease caused by and species. Despite its presence in Europe, no laboratory testing is required for animal movement, even though some countries remain free of this disease. Differentiating between species and genotypes is crucial to determine the most effective treatment, as dosage, active compounds, and duration vary. However, diagnosis is often challenging due to genetic variability and the limited sensitivity of molecular methods. The aims of this study were to compare the performances of different molecular diagnostic tests to identify the most effec...
Effects of Combined Transcriptome and Metabolome Analysis Training on Athletic Performance of 2-Year-Old Trot-Type Yili Horses.
Genes    February 4, 2025   Volume 16, Issue 2 197 doi: 10.3390/genes16020197
Yang L, Li P, Huang X, Wang C, Zeng Y, Wang J, Yao X, Meng J.Training is essential for enhancing equine athletic performance, but the genetic mechanisms that regulate athletic performance are unknown. Therefore, this paper aims to identify candidate genes and metabolic pathways for the effects of training on equine athletic performance through multi-omics analyses. Methods: The experiment selected 12 untrained trot-type Yili horses, which underwent a 12-week professional training program. Blood samples were collected at rest before training (BT) and after training (AT). Based on their race performance, whole blood and serum samples from 4 horses were ch...
Transcriptome Analysis Reveals Equine Endometrium’s Gene Expression Profile Around Embryo Fixation.
Genes    February 1, 2025   Volume 16, Issue 2 doi: 10.3390/genes16020181
Ulaangerel T, Mu S, Sodyelalt J, Yi M, Zhao B, Hao A, Wen X, Han B, Bou G.The success or failure of embryo fixation is crucial for embryo attachment and later development. As an epithelial chorioallantoic placenta-type animal, the horse has a special process of embryo implantation, and the mechanism of embryo fixation in horses is still unclear. Methods: In this study, the structural and transcriptomic characteristics of endometrial tissue from the fixed and nonfixed sides of 20-day gestation embryos in Mongolian horses were investigated to search for important genes and potential molecular markers associated with the fixation phase of equine embryos. Results: A com...
Core genome multilocus sequence typing schemes for epidemiological investigation of Taylorella equigenitalis and Taylorella asinigenitalis.
Veterinary microbiology    January 30, 2025   Volume 302 110419 doi: 10.1016/j.vetmic.2025.110419
Kozak S, Merda D, Chesnais V, Breuil MF, Harrison M, Zdovc I, Golob M, Petry S, Duquesne F.Taylorella equigenitalis is the causative agent of contagious equine metritis, an internationally regulated sexually-transmitted infection in horses, which is of great concern as it usually results in temporary infertility. Taylorella asinigenitalis, the second member of the genus, is mainly found in donkeys and is considered non-pathogenic, although a first natural outbreak was reported in 2019 in the United Arab Emirates. Multilocus sequence typing (MLST) is currently used to study the epidemiology of Taylorella spp. but, while highly transposable and reproducible, it only focuses on < 0.5...