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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.
miRNA Sequencing and Differential Analysis of Testis in 1-Year-Old and 2-Year-Old Kazakh Horses. The represents a significant genetic resource within China's population, characterized by notable resilience and an ability to thrive on coarse forage. Nevertheless, a decline in its numbers has been observed recently, making the improvement of its reproductive performance crucial for the preservation of this breed and the advancement of the related industry. In this study, testicular tissues from 1-year-old (pre-pubertal) and 2-year-old (post-pubertal) were analyzed. miRNA sequencing was conducted on tissues from these age groups, followed by bioinformatics analyses to elucidate the functi...
Machine Learning-Based Genome-Wide Association Study Reveals Genetic Loci Associated with Body Measurement Traits in Yili Horses. Body measurement traits are key indicators for evaluating growth performance, production potential, and breeding value in Yili horses. However, studies investigating the association between body measurement traits and mutation loci in Yili horses remain limited. In this study, 255 adult Yili mares were used as the study population, including 152 speed-type and 103 meat-type individuals. Whole-genome resequencing was performed, and four phenotypic traits and body weight were measured. A mixed linear model (MLM)-based genome-wide association study (GWAS) was conducted using GEMMA (v 0.98.5), inc...
Comparative analysis of mRNA and circRNA expression profiles and interaction networks in testicular tissues of Mongolian horses before and after sexual maturity. Mongolian horses, celebrated for their resilience and adaptability, undergo marked physiological transformations during sexual maturation. This study employed whole-transcriptome sequencing to conduct a comparative analysis of mRNA and circular RNA (circRNA) expression profiles, along with their interactive regulatory networks, in testicular tissues of Mongolian horses pre- and post-sexual maturity. Histological examinations using hematoxylin-eosin (H.E.) and 4’,6-diamidino-2-phenylindole (DAPI) staining revealed distinct morphological differences between sexually immature and mature testicu...
Additional Evidence Fails to Associate Variation in KCNE4 With Equine Anhidrosis. A prior genome-wide association (GWA; N = 200) including Thoroughbreds and stock horses implicated chromosome 6 (NC_009149.3) in owner-reported equine anhidrosis. A missense variant in KCNE4 (NC_009149.3:g.11813731A>G) was proposed as a risk allele, although its association with anhidrosis was not reported. Variant annotation and protein modelling in the original study suggested the G allele conferred risk. We reported no association of the G allele with anhidrosis in 50 horses phenotyped by an intradermal terbutaline sweat test (ITST); all horses produced sweat regardless of genotype. ...
Germline Pathogenic Variant in the APC Gene Suggestive of Gardner Syndrome in a Pony. A 12-year-old pony mare was presented for evaluation of dental disease and nasal discharge. At presentation, clinical signs included bilateral nasal discharge, cutaneous masses, and numerous hard enlargements involving the bones of the skull, maxilla, mandible, and cervical vertebrae. Oral exam revealed advanced dental disease with hard enlargements adjacent to and between numerous cheek teeth. Radiographs and computed tomography confirmed the presence of severe dental disease and proliferative bone lesions disseminated along the skull, hyoid apparatus, and cranial cervical vertebrae. The bony...
ATAC-seq and RNA-seq reveal key genes and pathways regulating lactation in the mammary gland of Yili horses. BACKGROUND: Mammary gland development and lactation are dynamic biological processes governed by coordinated changes in chromatin accessibility and gene expression. RESULTS: We performed paired ATAC-seq and RNA-seq profiling to characterize stage-associated chromatin accessibility and transcriptional programs in the Yili horse mammary gland. Using a conservative overlap-based integration, we prioritized candidate genes showing concordant changes across both layers as hypothesis-generating signals for future functional studies. We sequenced mammary gland tissues from early lactation (S1) and pe...
Genomic diversity and structure in arabian horses revealed by whole-genome sequencing: establishment of an allele frequency database of common genetic variation. BACKGROUND: The Arabian horse is a culturally and historically influential breed that has contributed to the development of many modern horse populations. However, genomic resources for this breed remain limited, particularly population-level allele frequency datasets that support studies of genetic diversity, selection, and disease. The aim of this study was to generate a comprehensive allele frequency database for Arabian horses using representative sampling and high-coverage whole-genome sequencing. RESULTS: We generated the first publicly available allele frequency database for the Arabian...
Transcriptome Sequencing and Differential Analysis of Testes in One- and Two-Year-Old Kazakh Horses. This study systematically elucidated the developmental characteristics and molecular regulatory mechanisms of the testis during the critical period of sexual maturation in Kazakh horses by combining histological observation of one- and two-year-old testicular tissues with transcriptomic sequencing. In the testes of one-year-old horses, no obvious lumen was observed, and the interior is mainly comprising supporting cells and spermatogonia on the basement membrane; in contrast, in the testes of two-year-old horses, the tubular lumen was complete with spermatogonia, spermatocytes, and spermatozoa...
Genetic diversity in the Criollo Argentino horse from SNP array data. The Criollo Argentino horse is a national symbol and a heritage breed that represents both cultural identity and a key component of traditional production systems in Argentina. This study aimed to assess the genetic differentiation of the Criollo Argentino relative to other horse breeds and to infer potential factors shaping its diversity through the genomic analysis of 24 representative animals. Samples were genotyped using a medium-density SNP array containing 65,157 markers, and genetic diversity analyses were conducted across autosomal SNP sets filtered under different criteria. Contempora...
HERDA-associated variant in bull-catching (vaquejada) Brazilian Northeastern bull-catching Quarter Horses. Bull-catching (vaquejada) accounting for approximately 13% of sport horses in Brazil. Genetic screening has enabled strategies to reduce the spread of inherited disorders, including Hereditary Equine Regional Dermal Asthenia (HERDA), a major skin disease included in the Six Panel required for registration by the Brazilian Quarter Horse Breeders Association. Although the HERDA-associated variant has been extensively studied in other disciplines, it had not been evaluated in Bull-catching Quarter Horses (QH). Objective: The present study aimed to determine the allele frequency of the pathogenic ...
Comprehensive molecular characterization of Theileria equi: Detection, genetic diversity, and risk factors assessment. Equine piroplasmosis, caused by Theileria equi, has been widely studied globally, but genetic diversity research in India remains limited. Analysis of 306 horse blood samples revealed T. equi infection in 10.78% by microscopy and 21.24% by PCR. Universal primers targeting 18S rRNA of T. equi and Babesia caballi were used, followed by species-specific primers generating 435 bp amplicons. Sequenced PCR-positive samples revealed high homology (99.52-100% in India, 95.89-100% globally), with all Indian isolates classified as genotype A. The EMA-1 gene phylogenetic analysis confirmed the insights f...
Haplotype GWAS in swedish warmblood horses for conformation and jumping traits. The aim of this study was to better understand the genomic architecture behind performance-related traits in sport horses. In this study, we conducted a haplotype-based genome-wide association study (GWAS) for 36 conformation and free jumping phenotypes recorded during routinely conducted young horse evaluation tests involving 380 Swedish Warmblood (SWB) horses. The horses were evaluated by expert judges using both traditional and linear evaluation systems. All samples were genotyped using the 670K Affymetrix® Axiom® Equine Genotyping Array, haplotypes were first phased, and haplotype blocks...
Unraveling the Molecular Mechanism of Bider Marking Formation in Dun Mongolian Horses Through Transcriptome Sequencing. (1) Background: The "Bider" marking refers to the symmetrical black stripes distributed on the shoulder blades of Dun Mongolian horses, representing an ancestral trait of significant genetic value. However, the molecular mechanisms underlying its formation remain unclear. This study aims to elucidate the molecular basis of these markings by comparing transcriptomic differences in skin tissues from variously pigmented areas of Mongolian horses' "Bider" patterns. (2) Methods: Using three Dun Mongolian horses as subjects, skin tissue samples were collected from their shoulders (dark-marked and li...
Comparative analysis of the transcriptome and methylome in distinct trophoblast populations at the time of embryo implantation in mares. BACKGROUND: During equine implantation, two distinct trophoblast subpopulations are identified: the invasive chorionic girdle (CG) and the non-invasive allantochorion. The invasive CG trophoblast is believed to modulate the maternal immune response and facilitates embryo attachment to the endometrium, while the allantochorion contributes to placental development without breaching the endometrium. However, the mechanisms underlying differential adhesion and immune modulation by these two lineages remain poorly understood. This study aimed to investigate the regulation of biological processes un...
Prevotella mikamonis sp. nov., isolated from equine clinical specimens. In this study, five strains of anaerobic, Gram-negative, rod-shaped bacteria were characterized phenotypically, biochemically and genotypically. These strains were clinically isolated from horse specimens in Japan. Phylogenetic trees constructed based on 16S rRNA gene sequence comparisons showed distinct clustering of the five strains with the type strains of closely related species. The genomic DNA G+C content was 46.7 mol%. The major cellular fatty acids identified were C, 3-OH-C and 3-OH-iso-C. Whole-genome comparisons based on average nucleotide identity using blast (ANIb) and digital DNA...
United States stakeholder insights on genetic testing for equine health and breeding. The S1094 United States Department of Agriculture Multistate Research Project is a collaborative effort utilizing equine genetics and genomics to improve horse health and well-being. It also provides educational resources and genetic testing tools to equine industry stakeholders. Objective: A survey assessed the knowledge, priorities, and information sources of U.S. horse owners and enthusiasts regarding equine genetic testing to inform future outreach and research efforts. Methods: An online survey was distributed from March to October 2024, targeting horse owners and enthusiasts across the U...
DMRT3 Gene Variations in Horse Breeds Selected for Gaited Movement – Established Research and Novel Findings. The DMRT3 gene, often referred to as the "gait keeper," plays a key role in controlling alternative gaits in horses, such as tölt and pace. This study aimed to determine the frequency of known and to screen for potential novel polymorphisms within the second exon of the DMRT3 gene. Methods: A total of 244 blood or hair samples were collected from representative individuals of the six horse breeds: gaited (Icelandic Horse, French Trotter), non-gaited (Arabian Horse, Malopolski Horse), and pony breeds (Welsh Pony, Shetland Pony). Methods: The second exon of the DMRT3 gene analyzed using Sanger ...
Multi-omics profiling of the testes in Kazakh horses across sexual maturation. Equus caballus is a species of considerable economic and cultural significance. However, the regulatory networks involved in equine sexual maturation remain unclear and eventually limit its reproduction and utilization. In this study, testicular tissues from eight Kazakh horses at two developmental stages (2 years, representing pre-maturation, and 3 years, representing post-maturation) were analyzed using whole transcriptome sequencing, data-independent acquisition (DIA) proteomics, and untargeted metabolomics. An integrated regulatory network was constructed encompassing ceRNA, mRNA, prot...
miRNA Sequencing and Differential Analysis of Testes from 1-Year-Old and 3-Year-Old Kazakh Horses. This study aims to elucidate the miRNA regulatory mechanisms during the developmental process of Kazakh horse testes at 1 and 3 years of age. Through miRNA sequencing and bioinformatics analysis of testicular tissues from 1-year-old and 3-year-old horses, a developmentally stage-specific miRNA expression profile was constructed. A total of 1640 miRNAs were identified, among which 437 (380 up-regulated and 57 down-regulated) exhibited significant differential expression between the two age groups, including eca-miR-16, eca-miR-17, eca-miR-103, and eca-miR-199a-5p. Functional enrichment analysis...
Biomarkers of Adipose Color: A Multi-Omics Analysis Unravels the Molecular Landscape of White and Yellow Fat in Kazakh Horse. Fat color is one of the most important economic traits influencing consumer preference and the market value of meat products. To explore the molecular mechanisms underlying abdominal adipose tissue color differentiation in the Kazakh horse, this study employed a multi-omics strategy, integrating targeted metabolomics (fatty acid and amino acid profiling), untargeted metabolomics, and transcriptomic analyses. Two types of adipose tissue, white adipose tissue (WAT, = 8) and yellow adipose tissue (YAT, = 8), were selected for systematic comparative analysis. Fatty acid composition analysis reve...
Unveiling genetic diversity in Egyptian Arabian horses (Equus caballus) through cytogenetic and ISSR marker analysis. This study combined classical cytogenetics and ISSR molecular markers to characterize genetic diversity in 24 Egyptian Arabian horses. Karyotyping revealed the standard equine chromosome number (2n = 64) with no numerical or structural abnormalities. Chromosome measurements were consistent with ISCN Equine standards: autosomal relative lengths (RL%) followed the expected size hierarchy, biarmed chromosomes displayed metacentric to submetacentric morphology (CI = 37-50%), and recalculated centromeric indices confirmed the presence of measurable p-arms on all acrocentric chromosomes. ISSR an...
An increased number of heterozygous calls in the AxiomTM Equine Genotyping Array. Single nucleotide polymorphism (SNP) arrays are commonly used in livestock genetics to investigate complex traits including genome-wide associations and fine mapping, genomic prediction and genetic diversity analyses. In a European equine diversity study, we analysed the AxiomTM Equine 670K SNP genotype data from 2,768 equids representing 20 horse breeds and one donkey breed. Using a strict detection setting to identify genome-wide runs of homozygosity (ROH), 169 purebred horses displayed fewer ROH segments than F1 crosses. Under medium and relaxed settings, ROH counts increased, while some ho...
Sex determination and genetic screening of equine embryos with whole genome amplification and real-time PCR. Reliable pre-implantation sex determination and genetic screening enables informed embryo transfer decisions in equine breeding while avoiding later interventions. We developed a streamlined workflow that couples rapid whole genome amplification (WGA) with a multiplex real-time PCR targeting ETSTY5 as a Y-specific marker and UBC as an autosomal control. On purified equine DNA, sex was correctly assigned down to 10 pg gDNA and to a single fibroblast cell. Direct testing of embryo biopsies without WGA yielded inconsistent results, whereas introducing a short WGA step produced tight allelic-discr...
Small Genome-wide association study of insect bite hypersensitivity in Hucul horses. Insect bite hypersensitivity (IBH) is a prevalent allergic skin disease in horses that significantly affects animal welfare and shows evidence of genetic predisposition. Objective: Understanding the genetic basis of IBH can improve management and breeding strategies. The Equine80K BeadChip microarray was used to identify genomic regions associated with the occurrence of IBH in Hucul horses. Methods: Hair samples were collected from 127 Hucul horses, including both affected individuals and controls. DNA was extracted and genotyped. A genome-wide association study (GWAS) was performed to identif...
Multicentric Malignant Melanoma in a Grey Mare: A Case Report. Grey coat color in horses, resulting from a 4.6 kb copy number variation (CNV) within the syntaxin 17 (STX17) gene (Grey locus), is linked to progressive hair depigmentation and a markedly increased risk of melanoma, likely to its function as a melanocyte-specific enhancer. Objective: This report details the clinical, pathological, and genomic findings of a 26-year-old flea-bitten grey mare with multiple melanocytic tumors, progressive dyspnea, and congestive heart failure. Due to the poor prognosis the horse was euthanized and submitted for necropsy to the Long Island University - Lewyt Colle...
Evidence That GYPA (Glycophorin A) Encodes the K Blood Group System in Horses. Although serological and genetic studies of equine blood group systems have been conducted for many years, the molecular basis of erythrocyte antigens' variability has remained largely unexplored. In this study, we aimed to elucidate the genetic basis of serological variation within equine blood group K. Using mRNA extracted from peripheral blood samples (n = 100) collected from horses with known serological blood types (Ka or K-), we performed a transcriptome-wide association study (TWAS), which revealed a significantly associated region on equine chromosome 2 (ECA2). A detailed analysis ...
Genetic background and phenotypic features of the endangered Miyako horse. The Miyako horse is one of the eight Japanese native horse breeds and is scarce in terms of population size. Japanese native horses are believed to be descended from Mongolian horses and represent a precious lineage that has preserved its traits for over a thousand years in Japan. Genetic analysis of the endangered Miyako horse is useful for preserving its original phenotypic traits. This study analysed the genetic variation in trait-related genes for coat colour (), body composition (), gait (), and temperament () in 46 extant Miyako horses. In addition, because numerous Miyako horses have ve...
Functional Characterization of Long Non-Coding RNAs Associated with Reproductive Fitness in Pura Raza Española Mares. Long non-coding RNAs (lncRNAs) are transcripts constituted of more than 200 nucleotides that have been associated with the regulation of different biological processes by modulating the expression of key genes. In horses, evidence suggests that lncRNAs play a role in female reproductive fitness, yet their functional implications remain poorly characterized. The objective of this study was to investigate potential DNA:RNA triplex interactions between the promoter regions of fertility-related genes and lncRNAs transcribed from non-coding loci located within ±50 kb of these genes. By doing so, w...
H3K4me3 CUT&Tag and Transcriptome Analysis Reveal the Epigenetic Regulatory Landscape in Mammary Gland Tissues of Yili Horses at Different Lactation Stages. H3K4me3, a well-established histone modification associated with active promoters, plays a critical role in orchestrating gene expression programs that govern mammary gland development and lactation. In this study, we present the first comprehensive epigenomic profiling of H3K4me3 modifications during mammary gland development in Yili horses using Cleavage Under Targets and Tagmentation (CUT&Tag) and RNA sequencing. Mammary gland tissues were collected from two developmental stages-early lactation and peak lactation. A total of 393 differentially expressed genes (DEGs) were identified betw...
Deficiency in homozygous haplotypes reveals recessive lethal variants affecting fertility and viability in the Friesian horse. BACKGROUND: Recessive lethal alleles causing pre- or postnatal death in homozygous mutant animals, could lead to reduced fertility success. The Friesian horse breed has signs of reduced fertility and has faced high inbreeding rates in the past (∆F > 1%). Consequently, by genetic drift lethal alleles may have reached moderate to high frequencies in the population. Our aim was to identify lethal recessive alleles that — when homozygous — may cause pre- or postnatal death in the Friesian horse. RESULTS: We analyzed genotypes (70 K SNP) of over 8,000 Friesian horses, looking for hapl...
