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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.
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...
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 ...
Heritability of sudden cardiac death in Thoroughbred racehorses.
Equine veterinary journal    July 10, 2024   doi: 10.1111/evj.14130
Kapusniak A, Nath L, Hebart M, Franklin S.Sudden cardiac death (SCD) is an important cause of exercise-associated fatalities in Thoroughbred racehorses. Equine deaths share similarities with fatalities in human athletes that result from inherited cardiac disease. Whilst genetic causes have been postulated in horses, these have not been confirmed and heritability of SCD has not previously been estimated in Thoroughbred racehorses. Objective: To determine the heritability of SCD in a sample population of Thoroughbred racehorses. Methods: Retrospective case-control study. Methods: Steward and post-mortem reports of Thoroughbred racehorse...
EquCab_Finn: A new reference genome assembly for the domestic horse, Finnhorse.
Animal genetics    July 10, 2024   doi: 10.1111/age.13463
Pokharel K, Weldenegodguad M, Reilas T, Kantanen J.Finnhorse is Finland's native and national horse breed and it has genetic affinities to northern European and Asian horses. It has historical importance for agriculture, forest work and transport and as a war horse. Finnhorse has four breeding sections in the studbook and is under conservation and characterisation efforts. We sequenced and annotated the genome of a Finnhorse mare from the working horse section using PacBio and Omni-C data. This genome can complement the existing Thoroughbred reference genome (EquCab 3.0) and facilitate genetic studies of horses from northern Eurasia. We assemb...
Using high-density SNP data to unravel the origin of the Franches-Montagnes horse breed.
Genetics, selection, evolution : GSE    July 10, 2024   Volume 56, Issue 1 53 doi: 10.1186/s12711-024-00922-6
Gmel AI, Mikko S, Ricard A, Velie BD, Gerber V, Hamilton NA, Neuditschko M.The Franches-Montagnes (FM) is the last native horse breed of Switzerland, established at the end of the 19th century by cross-breeding local mares with Anglo-Norman stallions. We collected high-density SNP genotype data (Axiom™ 670 K Equine genotyping array) from 522 FM horses, including 44 old-type horses (OF), 514 European Warmblood horses (WB) from Sweden and Switzerland (including a stallion used for cross-breeding in 1990), 136 purebred Arabians (AR), 32 Shagya Arabians (SA), and 64 Thoroughbred (TB) horses, as introgressed WB stallions showed TB origin in their pedigrees. The aim of ...
Relationship between the left-right asymmetric motor-related conformation and the orientation of facial hair whorls in Japanese Kiso horses.
The Journal of veterinary medical science    July 9, 2024   doi: 10.1292/jvms.24-0182
Onouchi S, Yoshida T, Saito S, Atoji Y.We examined the relationship between inherited motor-related conformation and orientation of facial hair whorls in Japanese Kiso horses. Eleven horses were divided into clockwise, counterclockwise, and radial groups according to facial hair whorls. We placed six markers on anatomical landmarks of each lateral side in a horse and measured the height of the landmarks, the distance between adjacent landmarks, and the angle of the adjacent landmarks. In the counterclockwise group, the horses tended to exhibit higher values on the left side than on the right side, and the comparison of the height o...
Selection signatures for high altitude adaptation in livestock: A review.
Gene    July 8, 2024   Volume 927 148757 doi: 10.1016/j.gene.2024.148757
Tiwari M, Gujar G, Shashank CG, Ponsuksili S.High altitude adapted livestock species (cattle, yak, goat, sheep, and horse) has critical role in the human socioeconomic sphere and acts as good source of animal source products including milk, meat, and leather, among other things. These species sustain production and reproduction even in harsh environments on account of adaptation resulting from continued evolution of beneficial traits. Selection pressure leads to various adaptive strategies in livestock whose footprints are evident at the different genomic sites as the "Selection Signature". Scrutiny of these signatures provides us crucia...
Administration and detection of a multi-target rAAV gene doping vector in horses using multiple matrices and molecular techniques.
Gene therapy    July 7, 2024   Volume 31, Issue 9-10 477-488 doi: 10.1038/s41434-024-00462-0
Maniego J, Harding C, Habershon-Butcher J, Hincks P, Ryder E.Gene doping, which includes the non-therapeutic use of genes or genetic elements that have the capacity to enhance athletic performance, is prohibited in horseracing and equestrian sports. To provide a comprehensive assessment of matrix and detection techniques, a custom adeno-associated virus serotype 8 vector was designed to include PCR binding sites for multiple target genes and assay types. The vector was injected via an intramuscular route into two Thoroughbred horses and matrices collected at defined timepoints. DNA was analysed using 3 detection methods: qPCR, digital PCR, and NGS. Over...
Ere, a Family of Short Interspersed Elements in the Genomes of Odd-Toed Ungulates (Perissodactyla).
Animals : an open access journal from MDPI    July 5, 2024   Volume 14, Issue 13 1982 doi: 10.3390/ani14131982
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...
16s gene metagenomic characterization in healthy stallion semen.
Research in veterinary science    July 4, 2024   Volume 176 105354 doi: 10.1016/j.rvsc.2024.105354
Núñez-Montero K, Leal K, Rojas-Villalta D, Castro M, Larronde C, Wagenknecht L, Contreras MJ.Studies on the bacterial composition of seminal samples have primarily focused on species isolated from semen and their effects on fertility and reproductive health. Culture-independent techniques, such as 16S rRNA gene sequencing and shotgun metagenomics, have revolutionized our ability to identify unculturable bacteria, which comprise >90% of the microbiome. These techniques allow for comprehensive analysis of microbial communities in seminal samples, shedding light on their interactions and roles. In this study, we characterized the taxonomic diversity of seminal microbial communities in he...
Divergent strains of EHV-1 in Swedish outbreaks during 2012 to 2021.
BMC veterinary research    June 22, 2024   Volume 20, Issue 1 270 doi: 10.1186/s12917-024-04096-7
Öhrmalm J, Cholleti H, Theelke AK, Berg M, Gröndahl G.Equid alphaherpesvirus 1 (EHV-1) is a ubiquitous and significant viral pathogen in horses worldwide, causing a range of conditions, including fever, respiratory disease, abortion in pregnant mares and the severe neurological disease called equine herpes myeloencephalopathy (EHM). Despite that EHV-1 is a notifiable animal disease in Sweden, there is limited knowledge about the circulating strains. This study aimed to analyze the genetic diversity of EHV-1 strains in equine samples from different Swedish outbreaks by partial genome sequencing. Genotyping based on three selected open reading fram...
Mitochondrial DNA and Y chromosome reveal the genetic structure of the native Polish Konik horse population.
PeerJ    June 20, 2024   Volume 12 e17549 doi: 10.7717/peerj.17549
Musiał AD, Radović L, Stefaniuk-Szmukier M, Bieniek A, Wallner B, Ropka-Molik K.Polish Konik remains one of the most important horse breeds in Poland. The primitive, native horses with a stocky body and mouse-like coat color are protected by a conservation program, while their Polish population consists of about 3,480 individuals, representing 16 dam and six sire lines. To define the population's genetic structure, mitochondrial DNA and Y chromosome sequence variables were identified. The mtDNA whole hypervariable region analysis was carried out using the Sanger sequencing method on 233 Polish Koniks belonging to all dam lines, while the Y chromosome analysis was performe...
Genetic analysis based on next generation sequencing of Streptococcus equi subsp. equi isolated from horses imported into Japan.
The Journal of veterinary medical science    June 18, 2024   Volume 86, Issue 8 828-832 doi: 10.1292/jvms.23-0342
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...
An endothelial regulatory module links blood pressure regulation with elite athletic performance.
PLoS genetics    June 17, 2024   Volume 20, Issue 6 e1011285 doi: 10.1371/journal.pgen.1011285
Fegraeus K, Rosengren MK, Naboulsi R, Orlando L, Åbrink M, Jouni A, Velie BD, Raine A, Egner B, Mattsson CM, Lång K, Zhigulev A, Björck HM....The control of transcription is crucial for homeostasis in mammals. A previous selective sweep analysis of horse racing performance revealed a 19.6 kb candidate regulatory region 50 kb downstream of the Endothelin3 (EDN3) gene. Here, the region was narrowed to a 5.5 kb span of 14 SNVs, with elite and sub-elite haplotypes analyzed for association to racing performance, blood pressure and plasma levels of EDN3 in Coldblooded trotters and Standardbreds. Comparative analysis of human HiCap data identified the span as an enhancer cluster active in endothelial cells, interacting with genes relevant ...
Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes.
Animals : an open access journal from MDPI    June 17, 2024   Volume 14, Issue 12 doi: 10.3390/ani14121802
Liu X, Peng Y, Zhang X, Wang X, Chen W, Kou X, Liang H, Ren W, Khan MZ, Wang C.Variation in coat color among equids has attracted significant interest in genetics and breeding research. The range of colors is primarily determined by the type, concentration, and distribution of melanin pigments, with the balance between eumelanin and pheomelanin influenced by numerous genetic factors. Advances in genomic and sequencing technologies have enabled the identification of several candidate genes that influence coat color, thereby clarifying the genetic basis of these diverse phenotypes. In this review, we concisely categorize coat coloration in horses and donkeys, focusing on t...
A case of a twin surviving to term following the abortion of its co-twin at 9 months in an Arabian mare.
Journal of equine veterinary science    June 17, 2024   Volume 139 105132 doi: 10.1016/j.jevs.2024.105132
Derbala MK, Sargious MAN, Hagag NM, Pycock JF, Abu-Seida AM.Twin pregnancy in mares is one of the leading causes of abortions. Abortion invariably impacts both fetuses. This report describes an unusual case of a twin surviving to term following the abortion of its co-twin at 9 months in a 7-year-old Egyptian Arabian mare. At the time of abortion at 9 months of gestation, the size of the aborted fetus was equivalent to one of approximately 5 months of age while the age of the live co-twin was 9 months. Both fetuses were males. A skin sample was collected from the aborted fetus and hair samples were collected from the dam, sire and live foal for parentag...
Ancient Mitochondrial Genomes Provide New Clues in the History of the Akhal-Teke Horse in China.
Genes    June 15, 2024   Volume 15, Issue 6 790 doi: 10.3390/genes15060790
Zhu S, Zhang N, Zhang J, Shao X, Guo Y, Cai D.This study analyzed ancient DNA from the remains of horses unearthed from the Shihuyao tombs. These were found to date from the Han and Tang Dynasties in Xinjiang (approximately 2200 to 1100 years ago). Two high-quality mitochondrial genomes were acquired and analyzed using next-generation sequencing. The genomes were split into two maternal haplogroups, B and D, according to a study that included ancient and contemporary samples from Eurasia. A close genetic affinity was observed between the horse of the Tang Dynasty and Akhal-Teke horses according to the primitive horse haplotype G1. Histori...
Genomic analyses of withers height and linear conformation traits in German Warmblood horses using imputed sequence-level genotypes.
Genetics, selection, evolution : GSE    June 13, 2024   Volume 56, Issue 1 45 doi: 10.1186/s12711-024-00914-6
Reich P, Möller S, Stock KF, Nolte W, von Depka Prondzinski M, Reents R, Kalm E, Kühn C, Thaller G, Falker-Gieske C, Tetens J.Body conformation, including withers height, is a major selection criterion in horse breeding and is associated with other important traits, such as health and performance. However, little is known about the genomic background of equine conformation. Therefore, the aim of this study was to use imputed sequence-level genotypes from up to 4891 German Warmblood horses to identify genomic regions associated with withers height and linear conformation traits. Furthermore, the traits were genetically characterised and putative causal variants for withers height were detected. Results: A genome-wide ...
Non-Synonymous Substitutions in Cadherin 13, Solute Carrier Family 6 Member 4, and Monoamine Oxidase A Genes are Associated with Personality Traits in Thoroughbred Horses.
Behavior genetics    June 10, 2024   doi: 10.1007/s10519-024-10186-x
Yokomori T, Tozaki T, Ohnuma A, Ishimaru M, Sato F, Hori Y, Segawa T, Itou T.Retraining retired racehorses for various purposes can help correct behavioral issues. However, ensuring efficiency and preventing accidents present global challenges. Based on the hypothesis that a simple personality assessment could help address these challenges, the present study aimed to identify genetic markers associated with personality. Eight genes were selected from 18 personality-related candidate genes that are orthologs of human personality genes, and their association with personality was verified based on actual behavior. A total of 169 Thoroughbred horses were assessed for their...
A method for detecting gene doping in horse sports without DNA extraction.
Drug testing and analysis    June 9, 2024   doi: 10.1002/dta.3745
Furukawa R, Tozaki T, Kikuchi M, Ishige T, Takahashi Y, Fukui E, Kakoi H.Gene doping is prohibited in horse sports and can involve the administration of exogenous genes, called transgenes, to postnatal animals. Quantitative polymerase chain reaction (qPCR) methods have been developed to detect gene doping; however, these generally require DNA extraction from the plasma prior to qPCR. In this study, we developed two methods, direct droplet digital PCR (ddPCR) and nested ddPCR, to detect the equine erythropoietin (EPO) transgene without DNA extraction. Direct ddPCR used pretreated plasma and PCR to detect the EPO transgene spiked at 10 copies/μL. Nested ddPCR utilis...
Effect of an endothelial regulatory module on plasma proteomics in exercising horses.
Comparative biochemistry and physiology. Part D, Genomics & proteomics    June 6, 2024   Volume 52 101265 doi: 10.1016/j.cbd.2024.101265
Amiri Roudbar M, Rosengren MK, Mousavi SF, Fegraeus K, Naboulsi R, Meadows JRS, Lindgren G.Elite performing exercise requires an intricate modulation of the blood pressure to support the working muscles with oxygen. We have previously identified a genomic regulatory module that associates with differences in blood pressures of importance for elite performance in racehorses. This study aimed to determine the effect of the regulatory module on the protein repertoire. We sampled plasma from 12 Coldblooded trotters divided into two endothelial regulatory module haplotype groups, a sub-elite performing haplotype (SPH) and an elite performing haplotype (EPH), each at rest and exercise. Th...
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