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.
The Estonian Native Horse (ENH) is a medium-size pony found mainly in the western islands of Estonia and is well-adapted to the harsh northern climate and poor pastures. The ancestry of the ENH is debated, including alleged claims about direct descendance from the extinct Tarpan. Here we conducted a detailed analysis of the genetic makeup and relationships of the ENH based on the genotypes of 15 autosomal short tandem repeats (STRs), 18 Y chromosomal single nucleotide polymorphisms (SNPs), mitochondrial D-loop sequence and lateral gait allele in DMRT3. The study encompassed 2890 horses of 61 b...
The primer set for 16S rDNA amplified an amplicon of about 1500 bp in length for three strains of Taylorella equigenitalis (NCTC11184(T), Kentucky188 and EQ59). Sequence differences of the 16S rDNA among the six sequences, including three reference sequences, occurred at only a few nucleotide positions and thus, an extremely high sequence similarity of the 16S rDNA was first demonstrated among the six sequences. In addition, the primer set for 16S-23S rDNA internal spacer region (ISR) amplified two amplicons about 1300 bp and 1200 bp in length for the three strains. The ISRs were estimated to ...
The goal of this research was to evaluate the ability of the genotyping information available in the Brazilian Criollo Horse Stud Book to describe the genetic variability of the breed and the exclusion probability determined in comparative tests. Altogether, two softwares were used in the analyses of the available genotypes: Cervus 3.0.3 and Genepop 4.0. Eight microsatellite markers totaled 109 alleles, with an average of 13.6 +/- 0.6 alleles per locus. Large differences between expected and observed heterozygosity were ubiquitous (0.821 +/- 0.07 and 0.470 +/- 0.17, respectively). Although the...
The goal of this work was the development of suitable (real-time) RT-PCR techniques for fast and sensitive diagnosis of EAV and for molecular-epidemiological characterisation of viral strains, as an alternative to virus isolation. To this purpose two conventional RT-PCR methods and one real-time RT-PCR were adapted to detect the broadest possible spectrum of viral strains. Several dilutions with Bucyrus strain showed a 100-fold higher sensitivity of real-time RT-PCR and heminested RT-PCR compared to simple RT-PCR. Making use of 11 cell culture supernatants of different EAV isolates and 7 semen...
Feral horses in Theodore Roosevelt National Park (TRNP) represent an iconic era of the North Dakota Badlands. Their uncertain history raises management questions regarding origins, genetic diversity, and long-term genetic viability. Hair samples with follicles were collected from 196 horses in the Park and used to sequence the control region of mitochondrial DNA (mtDNA) and to profile 12 autosomal short tandem repeat (STR) markers. Three mtDNA haplotypes found in the TRNP horses belonged to haplogroups L and B. The control region variation was low with haplotype diversity of 0.5271, nucleotide...
The results of integrated human and veterinary surveillance for West Nile virus (WNV) infections in Austria during the transmission seasons 2015 and 2016 are shown. Altogether WNV nucleic acid was detected in 21 humans, horses, wild birds and mosquito pools. In detail: in four human clinical cases [two cases of West Nile fever (WNF) and two cases of West Nile neuroinvasive disease (WNND)]; eight blood donors [among 145,541 tested donations], of which three remained asymptomatic and five subsequently developed mild WNF; two horses with WNND, of which one recovered and one had to be euthanized; ...
Osteochondrosis (OC) develops in growing horses due to disturbed differentiation and maturation of cartilage, particularly at the predilection sites of the fetlock, hock and stifle joints. Horses with osteochondrotic lesions are at a high risk of developing orthopaedic problems later in life. This article briefly reviews the published heritability estimates for OC and offers perspectives for selection in the horse industry. Heritabilities for OC in Warmblood and Standardbred horses have been estimated at 0.1-0.4 in animal threshold models. Whole genome scans using microsatellites have identifi...
Equine arteritis virus (EAV) is the causative agent of equine viral arteritis (EVA), a respiratory and reproductive disease of equids. There has been significant recent progress in understanding the molecular biology of EAV and the pathogenesis of its infection in horses. In particular, the use of contemporary genomic techniques, along with the development and reverse genetic manipulation of infectious cDNA clones of several strains of EAV, has generated significant novel information regarding the basic molecular biology of the virus. Therefore, the objective of this review is to summarize cur...
Exertional rhabdomyolysis (ER) and its familial basis in Warmblood horses is incompletely understood. Objective: To describe the case details, clinical signs and management of ER-affected Warmblood horses from a family with a high prevalence of ER, to determine if histopathological signs of polysaccharide storage myopathy (PSSM) and the glycogen synthase (GYS1) mutation are associated with ER in this family, and to investigate potential risk factors for development of ER. Methods: A family consisting of a sire with ER and 71 of his descendants was investigated. History of episodes of ER, husba...
Serum anti-Müllerian hormone (AMH), a marker of equine cryptorchidism, is detectable in intact and cryptorchid stallions but not in geldings because it is secreted from Sertoli cells. A 4-year-old uncastrated Thoroughbred racehorse had no visible testes; therefore, the horse was considered a bilateral cryptorchidism. However, the serum AMH was undetectable (<0.08 ng/ml). Human chorionic gonadotrophin (hCG) stimulating test result indicated that the horse was a gelding. The results of sex chromosomal analysis and sequence analysis of SRY gene suggested that the horse was a genetically-intac...
A breed known for its versatility, the American Quarter Horse (QH), is increasingly bred for performance in specific disciplines. The impact of selective breeding on the diversity and structure of the QH breed was evaluated using pedigree analysis and genome-wide SNP data from horses representing 6 performance groups (halter, western pleasure, reining, working cow, cutting, and racing). Genotype data (36 037 single nucleotide polymorphisms [SNPs]) from 36 Thoroughbreds were also evaluated with those from the 132 performing QHs to evaluate the Thoroughbred's influence on QH diversity. Results s...
Unlike in Warmblood horses, aortic rupture is quite common in Friesian horses, in which a hereditary trait is suspected. The aortic connective tissue in affected Friesians shows histological changes such as medial necrosis, elastic fibre fragmentation, mucoid material accumulation and fibrosis with aberrant collagen morphology. However, ultrastructural examination of the collagen fibres of the mid-thoracic aorta has been inconclusive in further elucidating the pathogenesis of the disease. Objective: To assess several extracellular matrix (ECM) components biochemically in order to explore a pos...
Nakajima K, Kasuya K, Senba H, Tagami K, Kinoshita Y, Niwa H.Strangles is a globally widespread, commonly diagnosed and important infectious disease of equids caused by Streptococcus equi subsp. equi. We performed whole genome sequencing of 19 S. equi isolates collected from imported horses at the Japanese border. Of these isolates, 15 isolates were obtained from clinical cases and 4 were from subclinical cases. The 19 isolates were grouped into 3 Bayesian analysis of population structure (BAPS) groups by the core genome single nucleotide polymorphism analysis corresponding to exporting country, SeM typing, or exporter of the horses. The 19 isolates pos...
Taylor WTT, Delsol N, Oelze VM, Mitchell P, Stricker L, Lavin M, Ogundiran A, Hosek L, Barrón-Ortiz CI, Ojediran O, Quintero-Bisono D....Domestic equids were central to the initial colonization of the Atlantic coast of the Americas, a process partially chronicled by historical records. While Spanish colonists brought horses to the Caribbean decades earlier, settlement of the English colony at Jamestown, Virginia, was among the first dispersals of horses to the eastern seaboard. Archaeozoological analysis of identifiable domestic equid remains from two contexts associated with the initial occupation of Jamestown demonstrates intense processing and consumption of the first Jamestown horses during the "Starving Time" winter of 160...
The extremely rich palaeontological record of the horse family, also known as equids, has provided many examples of macroevolutionary change over the last ~55 Mya. This family is also one of the most documented at the palaeogenomic level, with hundreds of ancient genomes sequenced. While these data have advanced understanding of the domestication history of horses and donkeys, the palaeogenomic record of other equids remains limited. In this study, we have generated genome-wide data for 25 ancient equid specimens spanning over 44 Ky and spread across Anatolia, the Caucasus, Central Asia and Mo...
: isolates from humans and horses of the equine-associated clonal complexes (CCs) CC1 and CC1660 were comparatively investigated for their genomic relationships. : A total of 91 isolates (64 human, 27 equine) were subjected to whole-genome sequencing (WGS), sequence analysis, and antimicrobial susceptibility testing. : WGS confirmed 75 CC1 and 16 CC1660 isolates, comprising nine sequence types (STs) in CC1 and four STs in CC1660. Ten types were present in CC1 and five in CC1660. In the gene of three CC1 isolates, a 285 bp deletion was detected, and a nucleotide deletion causing a premature...
Van Buren SL, Petersen JL, Brown CT, Finno CJ.With advancing genomic technologies, single-nucleotide polymorphism (SNP) arrays and whole genome sequencing (WGS) have become essential tools in equine genetic research. In this study, we assessed the concordance in SNP calls and trait-mapping efficacy by comparing data of 21 horses both genotyped on the Equine 670 K SNP array and sequenced at either ~12× or ~30× depth. Our analysis revealed that higher sequencing depths were significantly associated with fewer discordant calls between platforms. Additionally, we investigated the most frequent no-call and discordant positions and identifi...
Mojsiejczuk L, Whitlock F, Chen H, Magill C, Aranday-Cortes E, Bone J, Tong L, Da Silva Filipe A, Bryant N, Newton JR, Chambers TM, Reedy SE....Influenza A viruses (IAVs) are prime examples of emerging viruses in humans and animals. IAV circulation in domestic animals poses a pandemic risk as it provides new opportunities for zoonotic infections. The recent emergence of H5N1 IAV in cows and subsequent spread over multiple states within the USA, together with reports of spillover infections in humans, cats and mice highlight this issue. The horse is a domestic animal in which an avian-origin IAV lineage has been circulating for >60 years. In 2018/19, a Florida Clade 1 (FC1) virus triggered one of the largest epizootics recorded in the ...
Moroudi RS, Mahboudi H, Mahboudi F.The Dareshouri horse breed is one of Iran's native equine breeds, originating from the Dareshouri tribe, a subgroup of the Qashqai nomads. This breed has a history spanning over 500 years. Horses of this breed have smooth nates, tall stature, raised tails and strong skeletal muscles. This is the first study to investigate the effect of genetics on athletic performance in the Dareshouri breed. For this purpose, in this study, the genotype combination of two important variants, including the rs397152648Single nucleotide polymorphism (SNP) and Short interspersed nuclear element (SINE) insertion, ...
Dash SK, Panda S, Karna DK, Mishra C, Kalaignazhal G.The present study aimed to identify significant morphometric traits in Malkangiri ponies of Odisha through principal component analysis. The data were collected randomly from 200 ponies aged more than five years and 13 morphometric traits alongwith three indices were recorded. The mean height at wither, height at croup, body length, chest girth, punch girth, height at forearm, height at hock, fetlock to coronet, chest width, neck circumference, poll to wither, wither to croup and croup to head of the tail were 126.7 ± 0.39, 122.6 ± 0.29, 107.9 ± 0.2, 122 ± 0.31, 118.6 ±â...
Firshman AM, Valberg SJ.Type 1 Polysaccharide Storage Myopathy (PSSM1) is an autosomal dominant glycogen storage disorder affecting more than 20 breeds of horses that can present with a variety of signs, including exertional rhabdomyolysis (ER). It is diagnosed by genetic testing or muscle biopsies containing muscle fibers with abnormal amylase-resistant polysaccharide. Type 2 PSSM has recently been subdivided. PSSM2-ER is a glycogen storage disorder identified in Quarter Horses that causes ER and is diagnosed by muscle biopsy as its genetic basis is unknown. Both PSSM1 and PSSM2-ER respond well to a low nonstructura...
Błaszczak A, Stefaniuk-Szmukier M, Długosz B, Musiał AD, Olczak K, Ropka-Molik K. The Hucul horse breed formed in the region of the Eastern Carpathians, likely through the natural crossbreeding of oriental horses. After World War II, their population significantly decreased, leading to the breeding being based on only 14 female lines, whose founders often had unknown origins. To preserve the breed's unique characteristics, it is now part of a Genetic Resources Conservation Program, which prioritizes the maintenance of genetic diversity. This study aims to clarify the maternal relatedness of founder mares and assess genetic diversity using mitochondrial DNA (mtDNA). The hy...
Uprety T, Soni S, Sreenivasan C, Hause BM, Naveed A, Ni S, Graves AJ, Morrow JK, Meade N, Mellits KH, Adam E, Kennedy MA, Wang D, Li F.Equine rotavirus species A (ERVA) G3P[12] and G14P[12] are two dominant genotypes that cause foal diarrhoea with a significant economic impact on the global equine industry. ERVA can also serve as a source of novel (equine-like) rotavirus species A (RVA) reassortants with zoonotic potential as those identified previously in 2013-2019 when equine G3-like RVA was responsible for worldwide outbreaks of severe gastroenteritis and hospitalizations in children. One hurdle to ERVA research is that the standard cell culture system optimized for human rotavirus replication is not efficient for isolatin...
Ming KM, Le Verger K, Geiger M, Schmelzle T, Georgalis GL, Shimbo G, Sasaki M, Ohdachi SD, Sánchez-Villagra MR.The horse () varieties from Skyros and Rhodes islands (Greece) in the Aegean archipelago are extremely small, reaching shoulder heights of only about 1 m. Furthermore, the Japanese archipelago is home to eight small, native horse breeds. We investigated the evolutionary morphology and provided a review of historical documentations of these horses of cultural interest in Greece and Japan, thus providing a comparison of the independent evolution of small size in islands. We integrate cranial data from historical literature with data from newly gathered and curated skulls and analyse a measureme...
Hassanien RT, Thieulent CJ, Carossino M, Li G, Balasuriya UBR.(1) Background: equid alphaherpesvirus-1 (EHV-1) is a highly contagious viral pathogen prevalent in most horse populations worldwide. Genome-editing technologies such as CRISPR/Cas9 have become powerful tools for precise RNA-guided genome modifications; (2) Methods: we designed single guide RNAs (sgRNA) to target three essential (ORF30, ORF31, and ORF7) and one non-essential (ORF74) EHV-1 genes and determine their effect on viral replication dynamics ; (3) Results: we demonstrated that sgRNAs targeting essential lytic genes reduced EHV-1 replication, whereas those targeting ORF74 had a negligi...
Dahlgren AR, Careddu F, Norris JW, Adili R, Kropp EM, Li Q, Holinstat M, Biunno I, Balduini A, Tablin F, Shavit JA, Finno CJ.SEL1L is a well-known protein in the endoplasmic reticulum associated degradation (ERAD) pathway. While it is known to be expressed in platelets, SEL1L has never been shown to play an active role. Here we find evidence that SEL1L regulates platelet function. We first identified SEL1L through the study of Atypical Equine Thrombasthenia (AET), an autosomal recessive platelet disorder found in Thoroughbred horses. A missense variant in (c.1810A>G p.Ile604Val) was found in AET-affected horses, which we show is associated with decreased protein expression. SEL1L is intracellular in equine platelet...
Wang X, Shen Y, Ren H, Yi M, Bou G.Genomic imprinting is critical for mammalian development, but its regulation varies across species. The insulin-like growth factor 2 receptor (IGF2R), which is a maternally expressed imprinted gene critical for cell proliferation and differentiation, as well as embryonic and placental development, is classically regulated by differentially methylated regions (DMRs) and lncRNA- in mice. However, studies on this in equus are scarce, especially in terms of mechanistic studies. In the present study, heart, liver, spleen, lung, kidney, brain, and muscle samples were obtained from horses, donkeys, a...
