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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.
Identification of gene conversion events in horse IGHV suggests preferential hotspots for diversification. The humoral immune response relies on a diverse antibody repertoire, which is expanded through processes such as somatic hypermutation, class-switch recombination and gene conversion. These processes are primarily mediated by activation-induced cytidine deaminase (AID). Gene conversion generates diversity in immunoglobulin heavy and light chains (IGHVs) in species such as chickens and rabbits, though it has not been widely studied. Since 80% of the equine IGHV repertoire originates from only three functional gene segments, we examined gene conversion events in horses to assess their role in an...
Genetic diversity of Dermacentor nitens (Acari: Ixodidae) collected on horses from western Cuba. The tropical horse tick, Dermacentor nitens Neumann, 1897, has a wide distribution throughout the Neotropics, and is a vector of protozoan haemoparasites that cause equine piroplasmosis. Despite this, little is known about the genetic diversity of this tick species, particularly in Cuba, where horses are important domestic animals used in agriculture and for transportation. The objective of this study was to assess the magnitude of genetic variation in 115 D. nitens adults (57 females and 58 males) collected from horses in the Cuban province of Mayabeque using sequence data of two mitochondria...
Genetic Diversity and Population Structure in Seven Lipizzan Populations Based on Microsatellite Genotyping. Lipizzan horses, bred for over four centuries, represent a unique genetic, cultural and historic resource. This study assessed genetic diversity and population structure across seven European Lipizzan populations, with emphasis on the Bosnia and Herzegovina population. A total of 547 Lipizzan horses were genotyped using 12 microsatellite markers. The parameters of genetic variability, admixture level and migration rate were calculated. The mean number of alleles, effective number of alleles and Shannon's information index were 5.78, 3.24 and 1.31, respectively. The average fixation indices wer...
CXCL16-associated genetic susceptibility to equine viral arteritis in export-bound horses from Spain. Equine viral arteritis (EVA) remains a relevant health and economic concern due to the ability of some infected stallions to establish long-term persistent infection with equine arteritis virus (EAV). Allelic variation in the CXCL16 gene has been identified as a determinant of susceptibility or resistance to the carrier state, positioning genotyping as a useful tool for risk-based reproductive and health management. Objective: To characterise the distribution of CXCL16 genotypes in export-bound horses from Spain and to assess the utility of CXCL16 genotyping for EVA prevention and control. Met...
A Comparison of the Performance of Horses from the International WBFSH Rankings in Dressage, Jumping and Eventing Based on Their Sex, Age, Proportion of Thoroughbred Genes and Affiliation to the Studbook. The aim of the research was to assess how the selected factors could influence the performance of the best horses in dressage, jumping and eventing competitions. The research was based on the Studbook Rankings published by the World Breeding Federation for Sport Horses from 2019 to 2024. Our analysis shows a statistically significant effect of each of the observed factors in at least one discipline. The leading factor in all disciplines was studbook affiliation. The Belgian warmblood, German Sport Horse, Hanoverian, Royal Dutch Sport Horse, Oldenburg and Westphalian studbooks are represented a...
Horse genetics, archaeology, and the beginning of riding. Recent papers argued that the domestication of horses can be equated with the appearance of favorable genetic mutations that are first evident in individuals in the DOM2 clade dated about ∼2200-2100 BCE. We challenge the idea that this genetic shift alone defines domestication. Evidence from archaeology, ancient DNA, osteology, and other disciplines shows that horses from multiple genetic backgrounds (DOM1, DOM2, and, as we suggest here, DOM3) were managed, milked, and ridden long before 2200 BCE. Yamnaya groups (∼3200-2600 BCE) rode DOM2 horses-the direct ancestors of modern domestic stoc...
Unraveling the genomic architecture of hock conformation defects in Pura Raza Española horses. Conformational traits define a horse's shape and morphology, heavily influencing its functionality, sport performance, health, and appearance, making conformation a critical selection criterion in horse breeding. However, the genomic basis of conformational defects, specifically those affecting the hock, remains largely unexplored. This research aimed to identify the genomic regions associated with hock defects using a large cohort of Pura Raza Española (PRE) horses. A total of 58,930 horses were evaluated for hock angle, with 4,122 genotyped on high or medium density arrays. For this purpose...
High frequency and high genetic diversity of Pneumocystis sp. in foals. Twenty-two foals, aged one to seven months, which died from interstitial pneumonia (15 foals) or unrelated illnesses and injuries (7 foals), were enrolled in this study. Sampling of the lungs was performed post-mortem for a total of 52 specimens. Pneumocystis was detected in 21/22 foals (48/52 specimens) using a PCR assay targeting the gene encoding the small subunit of the mitochondrial rRNA (mtSSUrRNA) of the horse-related Pneumocystis (Pneumocystis sp. 'Equus ferus caballus'). The sequencing of the PCR products was successful in 34/48 specimens. The sequences were identical to the horse-rel...
The impact of barefoot racing in young Swedish trotters on career length. In several European countries, racing without shoes, i.e., barefoot, is a common strategy in trotting races to improve the speed of the horse. Why some trotters can race barefoot without damage to the hoof from excessive wear and others cannot, has been shown to partly be explained by differences in hoof composition. In particular, durable hind hooves are believed to be important to sustain racing without shoes. Also, variation in the proportion of the races the horse races with barefoot hind hooves, has been shown to be affected by genetic differences in Swedish Standardbred trotters (SB) and...
Genetic diversity of Toxoplasma gondii isolates from members of the families camelidae and equidae worldwide: a systematic review. Toxoplasma gondii is an apicomplexan parasite with a global distribution and significant public health and veterinary treatment implications. The present systematic review collates worldwide information on the genotypic diversity of T. gondii isolates infecting Camelidae (camels, alpacas, llamas, etc.) and Equidae (horses, donkeys, zebras, mules, etc.) and highlights their potential role as sentinels of environmental contamination and zoonotic spread. An exhaustive literature search of six electronic databases (PubMed, Web of Science, Scopus, ProQuest, Science Direct, and Google Scholar) from ...
Telomere-to-telomere Genome Assembly of Equus kiang (Tibetan wild donkey). The Tibetan wild donkey (Equus kiang) is an endemic equid species inhabiting the Qinghai-Tibet Plateau, exhibiting remarkable chromosomal diversity within the Equus genus. Here we present a chromosome-level, telomere-to-telomere genome assembly for E. kiang generated using Illumina short reads, PacBio HiFi long reads, and Hi-C sequencing data. The final assembly spans 4.02 Gb and comprises 27 pseudochromosomes. Specifically, 8 chromosomes are gapless, 8 chromosomes have one gap, 7 chromosomes have 2-4 gaps, and the remaining 4 chromosomes have five or more gaps. Benchmarking Universal Single...
Retrospective assessment of equine herpesvirus type 1 (EHV-1) genotype-associated clinical disease in Ontario. Equine herpesvirus type 1 (EHV-1) is an important viral pathogen in horses, associated with diverse clinical manifestations including fever, upper and lower respiratory disease, neurological signs, ocular disease, and abortion. Currently, EHV-1 variants (genotypes) are classified based on a single nucleotide polymorphism mutation of the open reading frame 30 (ORF30). Unassigned: The aim of this retrospective study was to evaluate the EHV-1 genotypes present in horses with various clinical presentations, including respiratory disease, abortion, and neurological disease, at a referral center in ...
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...
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...
