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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.
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...
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...
Milk productivity of mares. To determine the milk productivity of Kazakh horses of the Adai region in variants of selection and technological indicators of milk for the production of cumus in the conditions of the Mangyshlak peninsula of the Republic of Kazakhstan. The object of the study was the Kazakh horse of the Adai intra-breed type at "Taushyk" LLP (Tupkaragan District, Mangystau Region). Mares with a more pronounced milk production were selected and analyzed . they have investigated the quality of milk for further processing. A characteristic feature of the dynamics of milk sugar content during lactation has been ...
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...
Morphometric Characterization and Preliminary Heritability Estimates of Body Measurements in the Polish Konik Populations. The objective of this paper is to demonstrate the morphometric diversity of 172 Polish Koniks from the largest Polish breeding centers and to assess their genetic diversity by estimating the effective population size () and heritabilities () of the studied traits. The animals were bred under a stable housing system. Horses of both sexes aged 3 to 24 years were analyzed. Each horse was characterized with 40 metric traits. Multifactorial analyses (PCA, DA) and the REML method were applied to reveal the exterior differentiation and the development of distinct morphometric types. The findings esta...
Evidence of occipitoatlantoaxial malformations independent of the HOXD3 mutation in an Arabian horse. Occipitoatlantoaxial malformations (OAAM) are developmental disorders occurring at the occiput, atlas and axis. OAAM type 1 is a familial disorder affecting Arabian horses. Currently, a single genetic mutation in the HOXD3 gene region can be tested to confirm the diagnosis. This case describes a 3-year-old Arabian gelding affected with OAAM. Clinical examination revealed a proximal cervical deformation on the right side and severe stiffness of the neck in the sagittal plane without associated pain. Neurological examination demonstrated a generalized proprioceptive ataxia. Radiographs revealed ...
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...
An overview of the livestock microbiome: sheep, horses, cattle, camels, and chickens. The animal microbiome plays a crucial role in determining the health, productivity, and welfare of livestock species, including sheep, horses, cattle, camel, and chicken. These animal species were selected due to the high consumption of their products in Kazakhstan. Enhancing their productivity, while maintaining the safety and quality of meat and milk derived from them, represents a pressing research priority. This review article includes current research on the composition, diversity, and purposes of the microbiota found within different organ systems of these species. This study focuses on ...
Pedigree Investigation of Polish Sport Horses in Show Jumping: Insights for Global Breeding. The aim of this study was to characterise the pedigree and genetic structure of Polish Sport Horses competing in Grand Prix show jumping events and to assess the implications for international sport horse breeding. Pedigrees of 513 horses were analysed, encompassing a total of 18,836 individuals over a maximum of 16 generations. The completeness and depth of the pedigrees allowed for a reliable estimation of inbreeding coefficients and genetic diversity. The mean inbreeding coefficient was low (0.645%), yet 82% of the horses exhibited some degree of inbreeding. The greatest loss of genetic var...
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...
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...
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...
Population Structure and Genetic Diversity Among Lipizzan Mare Families in Hungary Based on Microsatellite Genotyping. The conservation of genetic diversity in historically structured horse breeds requires fi-ne-scale population genetic evaluation beyond conventional pedigree-based approaches. The present study assessed genetic diversity, population structure, and mare family differentiation in a Lipizzan horse population using 16 ISAG/FAO-recommended microsatellite markers. A total of 172 mares representing 29 mare families were genotyped. All loci were polymorphic, with a mean number of alleles per locus of 6.69 and a mean effective number of alleles of 3.56. The average polymorphism information content (PIC...
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...
Pedigree-Based Assessment of Genetic Structure and Disease-Associated Variants in Friesian Horses in Brazil. Background: Friesian horses are recognized for severe genetic restriction due to intensive selection. Still, the genetic diversity, founder representation, and prevalence of inherited disorders in the Brazilian Friesian population, which is comprised of fewer than 500 individuals, have not been previously investigated AIMS/OBJECTIVES: characterize the genetic diversity, inbreeding, founder representation using pedigree-based tools, and frequency of known pathogenic, behavioral, and white spotting alleles in Friesian horses registered in Brazil METHODS: Pedigree data from 411 Friesian horses (2...
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...
Differential Expression of MITF, WNT3A, SLC7A11, and EDN3 in the Shoulder ‘Bider Marking’ of Dun Mongolian Horses. (1) Background: The "Bider marking" on the shoulder of the Dun Mongolian horse represents a unique pigmentation pattern, the molecular formation mechanism of which remains incompletely understood. This study investigates the differential expression and protein localization of pigment-related genes-specifically the core transcription factor , as well as , , and -in the skin. The analysis focuses on three distinct regions: the dark-colored area of the 'Bider marking' shoulder (BIDC), the light-colored area of the 'Bider marking' shoulder (BILC), and the non-Bider-marked shoulder area (NBIS). The...
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...
Direct single-nucleotide polymorphism genotyping from whole blood without DNA extraction. A subset of single-nucleotide polymorphisms (SNPs) are associated with various phenotypes, including diseases, coat colour, and athletic performance, and are widely used in medical and veterinary fields. In this study, we developed a novel method for direct SNP genotyping from whole blood without DNA extraction. Thoroughbred blood samples were diluted 100-fold with Milli-Q water and analysed using real-time polymerase chain reaction (PCR) with hydrolysis probes. Specificity and sensitivity were improved by increasing the annealing temperature and number of PCR cycles. Genotyping results for SN...
