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Topic:Genomics

Genomics in horses involves the study and analysis of the horse genome to understand genetic variations and their implications for equine health, performance, and breeding. This field encompasses the identification and mapping of genes associated with specific traits, diseases, and conditions in horses. Techniques such as whole-genome sequencing and genome-wide association studies (GWAS) are employed to explore genetic diversity and inheritance patterns among different horse breeds. Genomics provides insights into hereditary disorders, informs selective breeding practices, and aids in the development of personalized veterinary care. This page compiles peer-reviewed research studies and scholarly articles that explore the applications, methodologies, and findings of genomic research in equine science.
Advancing equine genomics: the development of a high density Axiom_Ashwa SNP chip for Indian horses and ponies.
Functional & integrative genomics    October 23, 2024   Volume 24, Issue 6 195 doi: 10.1007/s10142-024-01482-0
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...
Correction: Genetic diversity and signatures of selection in Icelandic horses and Exmoor ponies.
BMC genomics    October 22, 2024   Volume 25, Issue 1 988 doi: 10.1186/s12864-024-10908-9
Sigurðardóttir H, Ablondi M, Kristjansson T, Lindgren G, Eriksson S.No abstract available
Genetic Factors of Equine Osteochondrosis and Fetlock Osteochondral Fragments: A Scoping Review – Part 2.
Veterinary journal (London, England : 1997)    October 21, 2024   106258 doi: 10.1016/j.tvjl.2024.106258
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 ...
Influence of Sires on Population Substructure in Dülmen Wild Horses.
Animals : an open access journal from MDPI    October 9, 2024   Volume 14, Issue 19 2904 doi: 10.3390/ani14192904
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...
Analyses of whole-genome sequences from 185 North American Thoroughbred horses, spanning 5 generations.
Scientific reports    October 2, 2024   Volume 14, Issue 1 22930 doi: 10.1038/s41598-024-73645-9
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...
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...
New Transcriptomic Biomarkers for Detection of the Recombinant Human Erythropoietin (rHuEPO) MirCERA in Horses.
Drug testing and analysis    September 25, 2024   Volume 17, Issue 7 1078-1087 doi: 10.1002/dta.3812
Loup B, André F, Leuenberger N, Marchand A, Barnabé A, Delcourt V, Garcia P, Popot MA, Bailly-Chouriberry L.Detection and monitoring of biomarkers related to doping is particularly suitable for the development of analytical strategies dedicated to indirect detection of banned substances. Previous studies in horses have already allowed the investigation of transcriptomic biomarkers in equine blood associated with reGH and rHuEPO administrations. Our most recent developments continue to focus on the discovery and monitoring of transcriptomic biomarkers for the control of ESAs, and a collaborative study with WADA-accredited doping control laboratories has recently been initiated to conduct a pilot stud...
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 ...
RNA Sequencing of Sperm from Healthy Cattle and Horses Reveals the Presence of a Large Bacterial Population.
Current issues in molecular biology    September 19, 2024   Volume 46, Issue 9 10430-10443 doi: 10.3390/cimb46090620
Navarrete-López P, Asselstine V, Maroto M, Lombó M, Cánovas Á, Gutiérrez-Adán A.RNA molecules within ejaculated sperm can be characterized through whole-transcriptome sequencing, enabling the identification of pivotal transcripts that may influence reproductive success. However, the profiling of sperm transcriptomes through next-generation sequencing has several limitations impairing the identification of functional transcripts. In this study, we explored the nature of the RNA sequences present in the sperm transcriptome of two livestock species, cattle and horses, using RNA sequencing (RNA-seq) technology. Through processing of transcriptomic data derived from bovine and...
RNA-Seq analysis reveals the different mechanisms triggered by bovine and equine after infection with FMDV.
Veterinary medicine and science    September 17, 2024   Volume 10, Issue 5 e1569 doi: 10.1002/vms3.1569
Wu Y, Li L, Bai W, Li T, Qian X, Liu Y, Wang S, Liu C, Wan F, Zhang D, Liu Y, Wu K, Ling Y, Zhou H, Meng F, Zhang Y, Cao J.Foot-and-mouth disease virus (FMDV) is an important pathogen of the MicroRNA virus family. Infection of livestock can cause physical weakness, weight loss, reduced milk production, and a significant reduction in productivity for an extended period. It also causes a high mortality rate in young animals, seriously affecting livestock production. The host range of FMDV is mainly limited to cloven-hoofed animals such as cattle and sheep, while odd-toed ungulates such as horses and donkeys have natural resistance to FMDV. The mechanism underlying this resistance in odd-toed ungulates remains unclea...
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...
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.
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...
Ancient equine genomes reveal dawn of horse domestication.
Nature    August 23, 2024   doi: 10.1038/d41586-024-02734-6
No abstract available
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 ...
Genomic revelations: investigating rotavirus a presence in wild ruminants and its zoonotic potential.
Frontiers in veterinary science    August 15, 2024   Volume 11 1429654 doi: 10.3389/fvets.2024.1429654
Šenica P, Žele Vengušt D, Vengušt G, Kuhar U.Rotaviruses A (RVA) are a major cause of acute viral gastroenteritis in humans worldwide and are responsible for about two million hospitalizations per year. They can also infect other mammals such as pigs, calves, goats, lambs, and horses, in which they are also considered a major cause of viral diarrhea. While RVA is well studied in humans and domestic animals, its occurrence in wild ruminants is not well known. The RVA genome is a double-stranded RNA consisting of 11 segments, and genotyping is based on the VP7 (G) and VP4 (P) segments. Currently, there are 42G genotypes and 58P genotypes. ...
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...
Placental homogeneity: Characterizing transcriptional variation among equine chorioallantoic locations.
Theriogenology    August 14, 2024   Volume 229 75-82 doi: 10.1016/j.theriogenology.2024.08.019
Verstraete MH, Dini P, Orellana D, Uribe-Salazar JM, Veras MM, Carneiro F, Daels P, Fernandes CB.The proper function of the placenta is essential for the health and growth of the fetus and the mother. The placenta relies on dynamic gene expression for its correct and timely development and function. Although numerous studies have identified genes vital for placental functions, equine placental molecular research has primarily focused on single placental locations, in sharp contrast with the broader approach in human studies. Here, we hypothesized that the molecular differences across different regions of the equine placenta are negligible because of its diffuse placental type with a macro...
Whole-genome sequencing and pathogenicity analysis of Rhodococcus equi isolated in horses.
BMC veterinary research    August 12, 2024   Volume 20, Issue 1 362 doi: 10.1186/s12917-024-04167-9
Hu B, Gao S, Zhang H, Li Q, Li G, Zhang S, Xing Y, Huang Y, Han S, Tian Y, Zhang W, He H.Rhodococcus equi (R. equi) is a Gram-positive zoonotic pathogen that frequently leads to illness and death in young horses (foals). This study presents the complete genome sequence of R. equi strain BJ13, which was isolated from a thoroughbred racehorse breeding farm in Beijing, China. Results: The BJ13 genome has a length of 5.30 Mb and consists of a complete chromosome and a plasmid measuring 5.22 Mb and 0.08 Mb, respectively. We predicted 4,929 coding gene open reading frames, along with 52 tRNAs and 12 rRNAs. Through analysis of mobile genetic elements, we identified 6 gene islands and ...
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...
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...
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...
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...
Preliminary investigation of potential links between pigmentation variants and opioid analgesic effectiveness in horses during cerebrospinal fluid centesis.
BMC veterinary research    July 12, 2024   Volume 20, Issue 1 311 doi: 10.1186/s12917-024-04139-z
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...
Detection of transgenes in equine dried blood spots using digital PCR and qPCR for gene doping control.
Drug testing and analysis    July 11, 2024   Volume 17, Issue 5 626-633 doi: 10.1002/dta.3755
Maniego J, Harding C, Habershon-Butcher J, Hincks P, Stewart G, Proudman C, Ryder E.Due to the ease of collection, transport and storage, the use of dried blood spots (DBS) offers an attractive alternative matrix for detection of the abuse of gene therapy, otherwise known as gene doping. This study evaluated the recovery, extraction efficiency and resulting detection capability of DNA from DBS by evaluating different target types, DNA extraction kits, the number of punches and blood tube preservatives. The long-term storage stability of low-copy-number transgene targets in DBS was not assessed in this study but would be noteworthy to investigate further. DNA was quantified us...
A study on methods for preimplantation genetic testing (PGT) on in vivo- and in vitro-produced equine embryos, with emphasis on embryonic sex determination.
Theriogenology    July 11, 2024   Volume 227 41-48 doi: 10.1016/j.theriogenology.2024.07.009
Ramírez-Agámez L, Castaneda C, Hernández-Avilés C, Grahn RA, Raudsepp T, Love CC.Two methods for preimplantation genetic testing (PGT) have been described for equine embryos: trophoblast cell biopsy (TCB) or blastocoele fluid aspiration (BFA). While TCB is widely applied for both in vivo- and in vitro-produced embryos, BFA has been mostly utilized for in vivo-produced embryos. Alternative methods for PGT, including analysis of cell-free DNA (CFD) in the medium where in vitro-produced embryos are cultured, have been reported in humans but not for equine embryos. In Experiment 1, in vivo- (n = 10) and in vitro-produced (n = 13) equine embryos were subjected to BFA, cultu...
DNA Methylation and Its Effects on TRIM29 Gene Expression in the Equine Sarcoid Tissue.
Veterinary and comparative oncology    July 10, 2024   doi: 10.1111/vco.12994
Ewelina SG, Anna Z, Rafał P, Maciej W.Sarcoids are the most frequently diagnosed dermatological tumour in horses. It is a disease that can affect various species of equids, such as donkeys, mules and zebras. This type of tumour can develop in all horse breeds, regardless of age and gender. Treatment options depend on many factors, such as the type of lesion, location, extent, owner preference and financial considerations. In the present study, we investigated the TRIM29 expression, the methylation status of its first exon and its involvement in the formation of equine sarcoids. Bisulfite sequencing PCR (BSP) was used to determine ...
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