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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.
A Comprehensive Analysis of the Genomic and Expressed Repertoire of the T-Cell Receptor Beta Chain in Equus caballus.
Animals : an open access journal from MDPI    September 29, 2024   Volume 14, Issue 19 2817 doi: 10.3390/ani14192817
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...
Molecular characterization of Fasciola hepatica obtained from cattle and horse in Central Chile.
Veterinary parasitology, regional studies and reports    September 27, 2024   Volume 56 101130 doi: 10.1016/j.vprsr.2024.101130
Cabrera G, Cabezas C, Estay-Olea D, Stoore C, Baquedano MS, Paredes R, Hidalgo C.Liver fluke infection, caused by the trematode Fasciola hepatica, is a parasitic zoonotic disease affecting various mammals, including humans, and has significant implications for public, animal, and ecosystem health. This study provides the first genetic characterization of F. hepatica in Chile, focusing on the complete mitochondrial gene cox1. Samples were collected from two different host species: cattle and horses. Our findings revealed that 70 % of detected haplotypes were found in either cattle or horses, which coincides with their geographical origin. Interestingly, the use of full-len...
Supervised Machine Learning Techniques for Breeding Value Prediction in Horses: An Example Using Gait Visual Scores.
Animals : an open access journal from MDPI    September 20, 2024   Volume 14, Issue 18 doi: 10.3390/ani14182723
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 ...
Genome-wide population affinities and signatures of adaptation in hydruntines, sussemiones and Asian wild asses.
Molecular ecology    September 16, 2024   Volume 33, Issue 19 e17527 doi: 10.1111/mec.17527
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...
Rewilded horses in European nature conservation – a genetics, ethics, and welfare perspective.
Biological reviews of the Cambridge Philosophical Society    September 15, 2024   doi: 10.1111/brv.13146
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 ...
Gene doping in horse racing and equine sports: Current landscape and future perspectives.
Equine veterinary journal    September 12, 2024   Volume 57, Issue 2 312-324 doi: 10.1111/evj.14418
Puchalska M, Witkowska-Piłaszewicz O.Gene doping, the use of gene therapy or genetic manipulation to enhance athletic performance, has emerged as a potential threat to the integrity and welfare of equine sports, such as horse racing and equestrian sports. This review aims to provide an overview of gene doping in horses, including the underlying technologies, potential applications, detection methods, ethical concerns and future perspectives. By understanding the current landscape of gene doping in horses, stakeholders can work together to develop strategies to safeguard the integrity of equine sports.
Nineteen years of radiographic screening: Impact of sepsis and evolution of osteochondrosis dissecans prevalence in Walloon sport horses born between 2004 and 2022.
PloS one    September 10, 2024   Volume 19, Issue 9 e0308304 doi: 10.1371/journal.pone.0308304
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...
Equine ART and antral follicle count: Can we deepen our understanding to improve outcomes?
Reproduction in domestic animals = Zuchthygiene    September 5, 2024   Volume 59 Suppl 2 e14625 doi: 10.1111/rda.14625
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...
The Use of Genomic Screening for the Detection of Chromosomal Abnormalities in the Domestic Horse: Five New Cases of 65,XXY Syndrome in the Pura Raza Español Breed.
Animals : an open access journal from MDPI    September 3, 2024   Volume 14, Issue 17 2560 doi: 10.3390/ani14172560
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...
An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses.
Nature communications    August 29, 2024   Volume 15, Issue 1 7510 doi: 10.1038/s41467-024-51898-2
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...
Molecular identification and genetic variability of equine and bovine ocular setariasis in india: molecular profiling by mitochondrial genes.
Molecular biology reports    August 24, 2024   Volume 51, Issue 1 932 doi: 10.1007/s11033-024-09846-2
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...
Ancient equine genomes reveal dawn of horse domestication.
Nature    August 23, 2024   doi: 10.1038/d41586-024-02734-6
No abstract available
The Weight of Genetic Drift: A Pedigree-Based Evaluation of the Breton Horse Population in Brazil.
Veterinary medicine international    August 23, 2024   Volume 2024 4714077 doi: 10.1155/2024/4714077
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...
Multivariate analysis of morphometric traits of the horse ecotypes reared in highlands of Bale Zone, Ethiopia.
Veterinary and animal science    August 22, 2024   Volume 25 100391 doi: 10.1016/j.vas.2024.100391
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...
Exploring the Genetic Landscape of Vitiligo in the Pura Raza Español Horse: A Genomic Perspective.
Animals : an open access journal from MDPI    August 21, 2024   Volume 14, Issue 16 2420 doi: 10.3390/ani14162420
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 ...
Genetic and antigenic characterization of two diarrhoeicdominant rotavirus A genotypes G3P[12] and G14P[12] circulating in the global equine population.
The Journal of general virology    August 20, 2024   Volume 105, Issue 8 002016 doi: 10.1099/jgv.0.002016
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...
In search of epigenetic hallmarks of different tissues: an integrative omics study of horse liver, lung, and heart.
Mammalian genome : official journal of the International Mammalian Genome Society    August 14, 2024   doi: 10.1007/s00335-024-10057-0
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...
Genetic diversity and signatures of selection in Icelandic horses and Exmoor ponies.
BMC genomics    August 8, 2024   Volume 25, Issue 1 772 doi: 10.1186/s12864-024-10682-8
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...
Evaluation of variants in the ENTPD1 and ENTPD2 genes in athletic horses with exercise-induced pulmonary haemorrhage.
BMC veterinary research    August 6, 2024   Volume 20, Issue 1 346 doi: 10.1186/s12917-024-04192-8
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...
Naturally occurring horse model of miscarriage reveals temporal relationship between chromosomal aberration type and point of lethality.
Proceedings of the National Academy of Sciences of the United States of America    August 5, 2024   Volume 121, Issue 33 e2405636121 doi: 10.1073/pnas.2405636121
Lawson JM, Salem SE, Miller D, Kahler A, van den Boer WJ, Shilton CA, Sever T, Mouncey RR, Ward J, Hampshire DJ, Foote AK, Bryan JS, Juras R, Pynn OD....Chromosomal abnormalities are a common cause of human miscarriage but rarely reported in any other species. As a result, there are currently inadequate animal models available to study this condition. Horses present one potential model since mares receive intense gynecological care. This allowed us to investigate the prevalence of chromosomal copy number aberrations in 256 products of conception (POC) in a naturally occurring model of pregnancy loss (PL). Triploidy (three haploid sets of chromosomes) was the most common aberration, found in 42% of POCs following PL over the embryonic period. O...
Livestock embryonic stem cells for reproductive biotechniques and genetic improvement.
Animal reproduction    August 5, 2024   Volume 21, Issue 3 e20240029 doi: 10.1590/1984-3143-AR2024-0029
Embryonic stem cells (ESCs) have proven to be a great model that faithfully recapitulates the events that occur during embryogenesis, making them a unique tool to study the cellular and molecular mechanisms that define tissue specification during embryonic development. Livestock ESCs are particularly attractive and have broad prospects including drug selection and human disease modeling, improvement of reproductive biotechniques and agriculture-related applications such as production of genetically modified animals. While mice and human ESCs have been established many years ago, no significa...
Shape and joint angle data for seven European horse breeds and their repeatability.
Data in brief    August 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...
Genetic Diversity and Population Structure of Dülmen Wild, Liebenthal and Polish Konik Horses in Comparison with Przewalski, Sorraia, German Draught and Riding Horses.
Animals : an open access journal from MDPI    July 31, 2024   Volume 14, Issue 15 doi: 10.3390/ani14152221
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...
Breeding Value Estimation Based on Morphological Evaluation of the Maremmano Horse Population through Factor Analysis.
Animals : an open access journal from MDPI    July 31, 2024   Volume 14, Issue 15 2232 doi: 10.3390/ani14152232
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...
Transplantation of spermatogonial stem cells in stallions.
Journal of animal science and technology    July 31, 2024   Volume 66, Issue 4 635-644 doi: 10.5187/jast.2024.e30
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 ...
Imputation of single nucleotide polymorphism genotypes in ungenotyped sport horses from the genotypes of their progeny.
Animal : an international journal of animal bioscience    July 31, 2024   Volume 18, Issue 9 101278 doi: 10.1016/j.animal.2024.101278
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...
Methodological approaches to assessing the genetic predisposition of osteochondrosis of the tarsocrural joint in the Pura Raza Española horses.
Animal : an international journal of animal bioscience    July 25, 2024   Volume 18, Issue 9 101255 doi: 10.1016/j.animal.2024.101255
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...
The complete genome of equid herpesvirus-1 (EHV-1) field isolates from Argentina reveals an interspecific recombinant strain.
Virus genes    July 19, 2024   Volume 60, Issue 5 559-562 doi: 10.1007/s11262-024-02093-4
Tau RL, Marandino AE, Panzera Y, Alamos F, Vissani MA, Romera SA, Pérez R, Maidana SS.The Equid alphaherpesvirus type 1 (EHV-1) infection can have devastating economic consequences in the horse industry due to large-scale outbreaks of abortions, perinatal foal mortality, and myeloencephalopathy. The present study analyzed the genome of two isolates obtained from aborted fetuses in Argentina, E/745/99 and E/1297/07. The E745/99 genome shares 98.2% sequence identity with Ab4, a reference EHV-1 strain. The E/1297/07 genome shares 99.8% identity with NY03, a recombinant strain containing part of ORF64 and part of the intergenic region from Equid alphaherpesvirus-4 (EHV-4). The E/12...
Changes of mRNA, miRNA and lncRNA expression contributing to skeletal muscle differences between fetus and adult Mongolian horses.
Comparative biochemistry and physiology. Part D, Genomics & proteomics    July 16, 2024   Volume 52 101294 doi: 10.1016/j.cbd.2024.101294
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...
Specific microRNAs in stallion spermatozoa are potential biomarkers of high functionality.
Reproduction in domestic animals = Zuchthygiene    July 15, 2024   Volume 59, Issue 7 e14674 doi: 10.1111/rda.14674
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...
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