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.
Bacon EK, Donnelly CG, Bellone RR, Haase B, Finno CJ, Velie BD.The pleiotropic effects of the melanocortin system show promise in overcoming limitations associated with large variations in opioid analgesic effectiveness observed in equine practice. Of particular interest is variation in the melanocortin-1-receptor (MC1R) gene, which dictates pigment type expression through its epistatic interaction with the agouti signalling protein (ASIP) gene. MC1R has previously been implicated in opioid efficacy in other species; however, this relationship is yet to be explored in horses. In this study, analgesic effectiveness was scored (1-3) based on noted response...
Ustyantsev IG, Kosushkin SA, Borodulina OR, Vassetzky NS, Kramerov DA.Short Interspersed Elements (SINEs) are eukaryotic retrotransposons transcribed by RNA polymerase III (pol III). Many mammalian SINEs (T SINEs) contain a polyadenylation signal (AATAAA), a pol III transcription terminator, and an A-rich tail in their 3'-end. The RNAs of such SINEs have the capacity for AAUAAA-dependent polyadenylation, which is unique to pol III-generated transcripts. The structure, evolution, and polyadenylation of the Ere SINE of ungulates (horses, rhinos, and tapirs) were investigated in this study. A bioinformatics analysis revealed the presence of up to ~4 × 10 Ere copie...
Ing NH, Konganti K, Ghaffar N, Johnson CD, Forrest DW, Love CC, Varner DD.Males of some species, from horses to humans, require medical help for subfertility problems. There is an urgent need for novel molecular assays that reflect spermatozoal function. In the last 25 years, studies examined RNAs in spermatozoa as a window into gene expression during their development and, more recently, for their functions in early embryo development. In clinics, more dense spermatozoa are isolated by density gradient centrifugation before use in artificial insemination to increase pregnancy rates. The objectives of the current study were to discover and quantify the microRNAs i...
Leite RO, Albertino LG, Sperandio LMS, Campos F, Campos R, Borges AS, Oliveira-Filho JP.Exercise-induced pulmonary haemorrhage (EIPH) in athletic horses is characterized by the presence of blood from the lungs in the tracheobronchial tree after intense exercise. Despite the high prevalence of EIPH in horses, the primary aetiology remains unknown. Variants in the genes encoding CD39 and CD39L1 (ENTPD1 and ENTPD2, respectively) were previously reported as potential genetic causes involved in EIPH pathogenesis. However, the role of these variants in haemostatic functions is unknown. Results: To investigate the association between EIPH and missense variants in the ENTPD1 (rs115229627...
Sigurðardóttir H, Ablondi M, Kristjansson T, Lindgren G, Eriksson S.The Icelandic horse and Exmoor pony are ancient, native breeds, adapted to harsh environmental conditions and they have both undergone severe historic bottlenecks. However, in modern days, the selection pressures on these breeds differ substantially. The aim of this study was to assess genetic diversity in both breeds through expected (HE) and observed heterozygosity (HO) and effective population size (Ne). Furthermore, we aimed to identify runs of homozygosity (ROH) to estimate and compare genomic inbreeding and signatures of selection in the breeds. Results: HO was estimated at 0.34 and 0.33...
Ripollés-Lobo M, Molina A, Novales M, Ziadi C, Hernández E, Valera M.Osteochondrosis (OC) is a developmental orthopaedic disease of significant concern in numerous sport horse breeds, with significant international relevance. Using digital radiographs, we assessed the occurrence of hock (tarsocrural joint) OC in 3 048 Pura Raza Española (PRE) horses which took part in a morpho-functional test, in three specific locations in the tarsus limbs: the Distal Intermediate Ridge of the Tibia (DIRT), the lateral trochlear ridges of the talus (LTT), and the medial trochlear ridges of the talus (MTT). An incidence rate of 13.3% was found for hock OC in the analysed samp...
Duderstadt S, Distl O.The objective of the present study was to analyze the genetic diversity, individual-based assessment of population structure, and admixture in the Dülmen wild horse population in comparison to warmblood, coldblood, and primitive horse populations. The Dülmen wild horse is kept as a unique horse population in the Merfelder Bruch near Dülmen in Westphalia, Germany, and since 1856 has been managed by the Dukes of Croÿ. The Dülmen wild horse population is exposed to the natural conditions of the Merfelder Bruch all year round without human interventions for feeding and veterinary care. In the...
Giontella A, Silvestrelli M, Cocciolone A, Pieramati C, Sarti FM.Morphological scoring is a common evaluation method for domestic animals. The National Association of Maremmano Breeders (ANAM) has provided a dataset containing the records of 600 horses, four metric measurements (cm) and 24 traits with a continuous evaluation scale, each one with 15 classes. Moreover, a body condition score (BCS) with five classes is included. In this study, factor analysis was conducted to create a small number of informative factors (3) obtained from these traits, and a new BLUP-AM-MT index was established. The New Estimated Breeding Value (NEBV1) of each horse was compute...
Semik-Gurgul E, Pawlina-Tyszko K, Gurgul A, Szmatoła T, Rybińska J, Ząbek T.DNA methylation and microRNA (miRNA) expression are epigenetic mechanisms essential for regulating tissue-specific gene expression and metabolic processes. However, high-resolution transcriptome, methylome, or miRNAome data is only available for a few model organisms and selected tissues. Up to date, only a few studies have reported on gene expression, DNA methylation, or miRNA expression in adult equine tissues at the genome-wide level. In the present study, we used RNA-Seq, miRNA-seq, and reduced representation bisulfite sequencing (RRBS) data from the heart, lung, and liver tissues of healt...
Jung H, Yoon M.Spermatogonial stem cells originate from gonocytes and undergo self-renewal and differentiation to generate mature spermatozoa via spermatogenesis in the seminiferous tubules of the testis in male mammals. Owing to the unique capacity of these cells, the spermatogonial stem cell transplantation technique, which enables the restoration of male fertility by transfer of germlines between donor and recipient males, has been developed. Thus, spermatogonial stem cell transplantation can be used as an important next-generation reproductive and breeding tool in livestock production. However, in large ...
Anandu S, Tanuj GN, Vijayasarathi MK, Manjusha KM, Samanta S, Bandyopadhyay S, Sankar M.Ocular setariasis is an ectopic infection caused by a parasite under the genus Setaria. Adult worms belong to the Setariidae family and typically reside in the peritoneal cavity of ungulates. However, immature forms of these species may aberrantly migrate to the eyes of cattle, buffalo, goats, horses and several other hosts, leading to corneal opacity and blindness. Here, we have distinguished the Setaria digitata collected from both equine and buffalo hosts based on the morphology, molecular profiling of mitochondrial cytochrome c oxidase subunit 1 (Cox1), cytochrome c oxidase subunit 3 (Cox3...
Ding W, Gong W, Liu H, Hu H, Shi L, Ren X, Cao Y, Zhang A, Shi X, Li Z, Bou T, Dugarjaviin M, Bai D.The growth and development of myofibers, as the fundamental units comprising muscle tissue, and their composition type are indeed among the most crucial factors influencing skeletal muscle types. Muscle fiber adaptation is closely associated with alterations in physiological conditions. Muscle fiber types undergo dynamic changes in fetus and adult horses. Our aim is to investigate the mechanisms influencing the differences in muscle fiber types between fetal and adult stages of Mongolian horses. The study investigated the distribution of muscle fiber types within longissimus dorsi muscle of fe...
Laseca N, Molina A, Perdomo-González D, Ziadi C, Azor PJ, Valera M.Vitiligo is a depigmentation autoimmune disorder characterized by the progressive loss of melanocytes leading to the appearance of patchy depigmentation of the skin. The presence of vitiligo in horses is greater in those with grey coats. The aim of this study was therefore to perform a genome-wide association study (GWAS) to identify genomic regions and putative candidate loci associated with vitiligo depigmentation and susceptibility in the Pura Raza Español population. For this purpose, we performed a wssGBLUP (weighted single step genomic best linear unbiased prediction) using data from a ...
Rubin CJ, Hodge M, Naboulsi R, Beckman M, Bellone RR, Kallenberg A, J'Usrey S, Ohmura H, Seki K, Furukawa R, Ohnuma A, Davis BW, Tozaki T, Lindgren G....The Greying with age phenotype in horses involves loss of hair pigmentation whereas skin pigmentation is not reduced, and a predisposition to melanoma. The causal mutation was initially reported as a duplication of a 4.6 kb intronic sequence in Syntaxin 17. The speed of greying varies considerably among Grey horses. Here we demonstrate the presence of two different Grey alleles, G2 carrying two tandem copies of the duplicated sequence and G3 carrying three. The latter is by far the most common allele, probably due to strong selection for the striking white phenotype. Our results reveal a rem...
Doyle JL, Egan S, Berry DP.Many sport horse studbooks worldwide use microsatellite markers for parentage verification. However, many have expressed a desire to introduce genomic selection using genome-wide dense single nucleotide polymorphism (SNP) genotypes to complement their current breeding programmes. Hence, it does not make sense to genotype the same animal for both microsatellite markers and SNP markers. Transitioning to SNP-based parentage verification is an obvious solution but one barrier to this transition is the lack of SNP data on parents from which to verify parentage against. Therefore, the objective of t...
Medeiros BB, Barcelos KMC, Andrade MO, Cristina da Paz Carvalho M, Miranda VR, de Oliveira Maia K, Reinhardt S, Patterson Rosa L.The genetic diversity of Breton horses in Brazil is a critical concern, mainly due to the small population size and low number of births per year. Given that the inbreeding was overlooked by breeders for multiple generations, we estimated the genetic diversity of this population utilizing pedigree-based measures of population diversity. A total of 1394 six-generation pedigrees representing the full population of registered Breton horses in Brazil defined a total population (TP, = 2679), with horses born between 2000 and 2022, reproductively active and alive, as reported by the breed assoc...
Le Breton A, Lewis N.Assisted reproductive technologies (ARTs) are performed worldwide in the equine industry to produce genetically valuable foals. Among them, ovum pick up (OPU) combined with intra-cytoplasmic sperm injection (ICSI) can now be more efficient than embryo transfer (ET) under optimal conditions. However, OPU is not a benign procedure for the mare and the process is costly. Improved efficiency is therefore in the interest of everyone, maximizing mare welfare and optimizing economics for the client. One of the key factors of success is the antral follicle count (AFC) at the time of OPU and subsequent...
Data in briefAugust 3, 2024
Volume 56 110799 doi: 10.1016/j.dib.2024.110799
Gmel AI, Lamas LP, Rosa TV, Stefaniuk-Szmukier M, Klecel W, Martin-Gimenez T, Cruz A, Weishaupt MA, Neuditschko M.Conformation traits are important in the selection and distinction between horse breeds, but tend to be evaluated subjectively within a breed and cannot be compared between them. The horse shape space model, using a combination of 253 landmarks and semi-landmarks, provides objective information on the shape of a horse photographed from the side that can be compared between breeds. In this dataset, we are providing the full set of 253 landmarks for 1241 horses from seven breeds, including an R code file to extract joint angle information and transform the raw data into csv files for further ana...
Van Cauter R, Caudron I, Lejeune JP, Rousset A, Serteyn D.Osteochondrosis dissecans is a particularly common developmental orthopaedic disorder in equines. Among its causes, the hereditary component is no longer a matter of debate, and, for several decades, the various studbooks for sport horses have been selecting stallions in order to limit the prevalence of this condition in the population. However, to our knowledge, no study has evaluated changes in the prevalence of osteochondrosis dissecans over time through longitudinal monitoring of a population of sport horses. The study presented here is part of a large screening programme for developmental...
Valera M, Karlau A, Anaya G, Bugno-Poniewierska M, Molina A, Encina A, Azor PJ, Demyda-Peyrás S.Sex chromosomal abnormalities are a well-established cause of reproductive failure in domestic horses. Because of its difficult diagnosis, the Pura Raza Español breeding program established a routine screening for chromosomal abnormalities in all the horses prior to enrolling in the studbook. This genomic procedure combines an initial assessment based on the results from Short Tandem Repeat (STR) parentage testing followed by a Single-Nucleotide Polymorphism (SNP) based copy number aberration (CNA) confirmative analysis in positive cases. Using this methodology, we identified five new individ...
In recent decades, the integration of horses (Equus ferus) in European rewilding initiatives has gained widespread popularity due to their potential for regulating vegetation and restoring natural ecosystems. However, employing horses in conservation efforts presents important challenges, which we here explore and discuss. These challenges encompass the lack of consensus on key terms inherent to conservation and rewilding, the entrenched culture and strong emotions associated with horses, low genetic diversity and high susceptibility to hereditary diseases in animals under human selection, as ...
Bussiman F, Alves AAC, Richter J, Hidalgo J, Veroneze R, Oliveira T.Gait scores are widely used in the genetic evaluation of horses. However, the nature of such measurement may limit genetic progress since there is subjectivity in phenotypic information. This study aimed to assess the application of machine learning techniques in the prediction of breeding values for five visual gait scores in Campolina horses: dissociation, comfort, style, regularity, and development. The dataset contained over 5000 phenotypic records with 107,951 horses (14 generations) in the pedigree. A fixed model was used to estimate least-square solutions for fixed effects and adjusted ...
Guyo M, Tareke M, Tonamo A, Bediye D, Defar G.This study was conducted to evaluate morphometric traits of horse ecotypes reared in four districts of the Bale highlands, southeastern Ethiopia. Twenty-seven morphometric traits were measured from 500 horses (294 males and 206 females) of both sexes. Data were analyzed using SAS 2012. This study revealed that certain traits, such as head length, loin length, bi-ischial width, and sternum height of horses were similar. However, significant differences ( < 0.0001, < 0.01, < 0.05) were observed in other traits across the districts. All traits were affected by age ( < 0.05) except rump width an...
Bailey E, Finno CJ, Cullen JN, Kalbfleisch T, Petersen JL.Whole genome sequences (WGS) of 185 North American Thoroughbred horses were compared to quantify the number and frequency of variants, diversity of mitotypes, and autosomal runs of homozygosity (ROH). Of the samples, 82 horses were born between 1965 and 1986 (Group 1); the remaining 103, selected to maximize pedigree diversity, were born between 2000 and 2020 (Group 2). Over 14.3 million autosomal variants were identified with 4.5-5.0 million found per horse. Mitochondrial sequences associated the North American Thoroughbreds with 9 of 17 clades previously identified among diverse breeds. Indi...
Van Mol B, Janssens S, Oosterlinck M, Pille F, Buys N.Equine osteochondrosis and osteochondral fragments in the fetlock joint are linked to various environmental and genetic risk factors. To assess the scope of the literature linking these risk factors to the development of these osteochondral disorders, while identifying knowledge gaps and challenges to guide future research, a scoping review was performed. This article constitutes the second part of this scoping review and focuses on genetic factors, with the first part addressing environmental factors. To identify potentially relevant papers, online bibliographical databases PubMed and Web of ...
Ahlawat S, Niranjan SK, Arora R, Vijh RK, Kumar A, Sharma U, Raheja M, Popli K, Yadav S, Mehta SC.The unique horse and pony breeds of India are declining at an alarming rate. These horses have been integral to the Indian culture and customs for centuries and represent a valuable genetic resource. It is imperative to harness the potential of this equine genetic resource that urgently needs conservation. The study highlights the design and development of a high density SNP array, the Axiom_Ashwa to aid in the genetic analysis and conservation efforts for Indian horse and pony breeds. With 613,950 SNPs, this chip offers extensive genome coverage having an average inter-marker distance of 4 k...
Duderstadt S, Distl O.The objectives of the present study were to analyze the influence of the stallions employed in the Dülmen wild horses on the genetic diversity and population substructure using Bayesian cluster analysis. The Dülmen wild horse is maintained as a unique horse population exposed to the natural conditions all year round in the Merfelder Bruch near Dülmen in Westphalia, Germany. Stallions selected for breeding have to prove their abilities to survive under this harsh environment. We used multilocus genotypic information from a set of 29 autosomal microsatellites to determine the paternity of 185...
In this paper, we report a comprehensive and consistent annotation of the locus encoding the β-chain of the equine T-cell receptor (TRB), as inferred from recent genome assembly using bioinformatics tools. The horse TRB locus spans approximately 1 Mb, making it the largest locus among the mammalian species studied to date, with a significantly higher number of genes related to extensive duplicative events. In the region, 136 TRBV (belonging to 29 subgroups), 2 TRBD, 13 TRBJ, and 2 TRBC genes, were identified. The general genomic organization resembles that of other mammals, with a V cluster o...
Pepper B, North E, Foster M, Culwell J, Nicodemus MC, Cavinder C, Harvey K, Williams T.Registration numbers for the Palomino Horse Breeders of America (PHBA) have risen with the assistance of new registration guidelines. These changes in guidelines allowed for registration of any horse with a palomino body color, including those with unknown pedigrees. While this promoted registry growth, documenting the breed's orgins from those known pedigrees making up the breed's foundation is important with the introduction of unknown pedigrees. This can be accomplished using pedigree tracing, which is of particular value for color registries as the study of coat color patterns is plagued w...
Yoshihara T, Tozaki T, Nakaya S, Takasu M, Kawate K, Furukawa R, Kikuchi M, Isihge T, Nagata SI, Kakoi H, Hobo S.The Taishu horse is a native Japanese breed threatened with extinction. It is important to genotype the causative genes of rare phenotypes in endangered breeds because unique genetic traits might be lost unless a breeding strategy for conservation is constructed. In the present study, nine single-nucleotide variants and three indels of nine genes related to coat color, body composition, and gait were genotyped in 56 Taishu horses. Of these, only three genes were polymorphic. The observed coat color phenotypes coincided with the estimated phenotype from the genotypes, whereas black horses showe...
