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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.
Multiplex PCR-Liquid Chromatography High-Resolution Tandem Mass Spectrometry for Simultaneous Detection of Multiple Transgenes in Equine Plasma.
Analytical chemistry    May 12, 2025   doi: 10.1021/acs.analchem.5c00770
Yuen BP, Wong KS, So YM, Kwok WH, Cheung HW, Wan TSM, Ho EN, Wong WT.The development of gene therapy techniques introduces a potential risk of gene doping, which threatens the integrity of sport. In response to this challenge, we have developed a novel analytical method that employs a multiplex polymerase chain reaction (PCR) in conjunction with liquid chromatography high-resolution tandem mass spectrometry (LC-HRMS/MS) for the simultaneous identification of multiple transgenes in equine plasma within a single reaction. The method targets three potential doping transgenes: equine growth hormone 1 (eGH1), equine growth hormone-releasing hormone (eGHRH), and equi...
Enhanced Reliability of the Evaluation of Fertility Traits in Pura Raza Española Horses Using Single-Step Genomic Best Linear Unbiased Prediction.
Genes    May 9, 2025   Volume 16, Issue 5 562 doi: 10.3390/genes16050562
Ziadi C, Valera M, Laseca N, Perdomo-González D, Demyda-Peyrás S, de Los Terreros AR, Molina A. By simultaneously integrating both genotyped and non-genotyped animals into genetic evaluation, the single-step genomic BLUP method enhanced the accuracy of genetic assessments. This study aimed to compare the increase in prediction reliability (R) between restricted maximum likelihood (REML) and single-step genomic REML (ssGREML) in the Pura Raza Española (PRE) horse breed. The dataset comprised reproductive records for seven fertility traits from 47,502 females, with a total of 57,316 animals represented in the pedigree. A total of 4009 animals were genotyped using the EQUIGENE 90K SNP ar...
Identification of the role of SEL1L in platelet function through a multi-species genetic investigation.
bioRxiv : the preprint server for biology    May 6, 2025   2025.04.30.651507 doi: 10.1101/2025.04.30.651507
Dahlgren AR, Careddu F, Norris JW, Adili R, Kropp EM, Li Q, Holinstat M, Biunno I, Balduini A, Tablin F, Shavit JA, Finno CJ.SEL1L is a well-known protein in the endoplasmic reticulum associated degradation (ERAD) pathway. While it is known to be expressed in platelets, SEL1L has never been shown to play an active role. Here we find evidence that SEL1L regulates platelet function. We first identified SEL1L through the study of Atypical Equine Thrombasthenia (AET), an autosomal recessive platelet disorder found in Thoroughbred horses. A missense variant in (c.1810A>G p.Ile604Val) was found in AET-affected horses, which we show is associated with decreased protein expression. SEL1L is intracellular in equine platelet...
Genetic susceptibility to sarcoid in Arabian horses: associations with MHC class II and compound MHC class I/KLRA genotypes.
Veterinary research communications    May 1, 2025   Volume 49, Issue 3 184 doi: 10.1007/s11259-025-10748-2
Vychodilova L, Plasil M, Futas J, Kopecka A, Molinkova D, Wijacki T, Jahn P, Knoll A, Horin P.Although the Major Histocompatibility Complex (MHC) has been repeatedly associated with susceptibility to equine sarcoid, a disease associated with bovine papillomavirus infection, the role of the MHC in the mechanisms of the disease is not fully understood. The objectives of our work were to analyze associations between polymorphic markers of the MHC genomic subregions and of the Natural Killer Complex (NKC) genomic region and the presence of sarcoid in Arabian horses. Microsatellite loci located in the MHC class I, II and III subregions and two MHC class II genes (DRA, DQA1), along with a se...
Allele Frequencies and Genotypes for the Ryanodine Receptor 1 Variant Causing Malignant Hyperthermia and Fatal Rhabdomyolysis With Hyperthermia in Horses.
Journal of veterinary internal medicine    April 29, 2025   Volume 39, Issue 3 e70081 doi: 10.1111/jvim.70081
Aleman M, McCue M, Bellone RR.Fatal anesthesia-induced malignant hyperthermia (MH) and rhabdomyolysis with hyperthermia documented in Quarter Horses (QH) breeds are caused by a missense variant in the ryanodine receptor 1 gene (RYR1: XP_023505430.1.:p.(R2454G), designated as MH). The reported cases to date have all been heterozygous, and the allele frequency is suspected to be low. Objective: To determine an accurate estimate of MH allele frequency in multiple horse breeds and investigate whether homozygous animals exist in the population. Methods: In total, 159 227 horses from 16 breeds who were either submitted for cli...
Osteochondrosis in horses: An overview of genetic and other factors.
Equine veterinary journal    April 29, 2025   doi: 10.1111/evj.14518
Martinez-Saez L, Marín-García PJ, Llobat ML.Osteochondrosis (OC) is a frequent manifestation of developmental orthopaedic disease, and its severe clinical presentation is known as OC dissecans (OCD). OC is defined as a disruption of the endochondral ossification process in the epiphyseal cartilage, and this disease has been reported in different mammalian species, including humans, dogs, pigs, and horses. OCD is an important cause of lameness in sport horses and is a common cause of impaired orthopaedic potential, whose clinical signs may be of minimal magnitude or manifest as severe joint effusion or clinically noticeable lameness. The...
Characteristics and dynamic changes of gut microbiota in Mongolian horses and Guizhou horses.
Frontiers in microbiology    April 15, 2025   Volume 16 1582821 doi: 10.3389/fmicb.2025.1582821
Li Y, Lan Y.The gut microbial importance and its crucial roles in host digestion, immunity, and metabolism have received widely attention. Horses, especially indigenous varieties such as Mongolian horses (MGH) and Guizhou horses (GZH), have not received sufficient attention, and the characteristics of their gut microbiota are still unclear. For this purpose, we collected faecal samples from eight MGH and eight GZH to compare their gut microbial differences using amplicon sequencing. The results of alpha diversity analysis indicated that the gut bacterial diversity and gut fungal abundance in GZH were sign...
Pilot Study on the Profiling and Functional Analysis of mRNA, miRNA, and lncRNA in the Skeletal Muscle of Mongolian Horses, Xilingol Horses, and Grassland-Thoroughbreds.
Animals : an open access journal from MDPI    April 13, 2025   Volume 15, Issue 8 doi: 10.3390/ani15081123
Ding W, Gong W, Bou T, Shi L, Lin Y, Wu H, Dugarjaviin M, Bai D.Muscle fibers, as the fundamental units of muscle tissue, play a crucial role in determining skeletal muscle function through their growth, development, and composition. To investigate changes in muscle fiber types and their regulatory mechanisms in Mongolian horses (MG), Xilingol horses (XL), and Grassland-Thoroughbreds (CY), we conducted histological and bioinformatic analyses on the gluteus medius muscle of these three horse breeds. Immunofluorescence analysis revealed that Grassland-Thoroughbreds had the highest proportion of fast-twitch muscle fibers at 78.63%, while Mongolian horses had ...
Effect of Alternative Splicing Euchromatic Histone Lysine Methyltransferase 2 (EHMT2/G9A) on Spermatogenesis in Mongolian Horses.
Animals : an open access journal from MDPI    April 11, 2025   Volume 15, Issue 8 doi: 10.3390/ani15081106
Baatar T, Song D, Weng Y, Wang G, Jin L, Guo R, Li B, Dugarjaviin M.The epigenetic regulation of gene expression through the covalent modification of histones is crucial for developing germline cells. To study the regulatory role of alternative splicing (AS) of euchromatic histone lysine methyltransferase 2 (EHMT2/G9A) in spermatogenesis in Mongolian horses, this study first examines the localization of the EHMT2 gene in testicular support cells and then predicts the higher-order structures of sequences with and without AS. Two types of lentiviral vectors for overexpression were subsequently constructed for the EHMT2 gene, one with AS and one without, to infec...
Exploring the genetic influences on equine analgesic efficacy through genome-wide association analysis of ranked pain responses.
Veterinary journal (London, England : 1997)    April 10, 2025   Volume 312 106347 doi: 10.1016/j.tvjl.2025.106347
Bacon EK, Donnelly CG, Finno CJ, Haase B, Velie BD.Multimodal analgesic administration is a promising strategy for mitigating side effects typically associated with analgesia; nevertheless, variation in analgesic effectiveness still poses a considerable safety concern for both horses and veterinarians. Pharmacogenomic studies have started delving into genetic influences on varying drug effectiveness and related side effects. However, current findings have narrow implications and are limited in their ability to individualize analgesic dosages in horses. Hydromorphone and detomidine were administered to a cohort of 48 horses at standardized time...
An unusual case of a monorchid horse with an abdominally retained testicle. Sinovich M, Monné Rodriguez J, Pieńkowska-Schelling A, Schelling C, Kelly PG.Introduction Monorchidism is a rarely described condition in the horse and is not to be confused with cryptorchidism. The diagnosis is challenging and confirmed by surgery and histology in combination with hormonal assays. This report describes, to the best of the author's knowledge, the first case of monorchidism and abdominal cryptorchidism of the developed testicle in a horse. Methods An Irish Cob underwent laparoscopic castration for removal of bilateral cryptorchid testicles. At surgery the horse was diagnosed as a monorchid with the testicle retained intra-abdominally. Histopathological,...
Genetic influence of a STAU2 frameshift mutation and RELN regulatory elements on performance in Icelandic horses.
Scientific reports    April 4, 2025   Volume 15, Issue 1 11641 doi: 10.1038/s41598-025-95593-8
Sigurðardóttir H, Eriksson S, Niazi A, Rhodin M, Albertsdóttir E, Kristjansson T, Lindgren G.Selection for performance in horse breeding benefits from precise genetic insights at a molecular level, but knowledge remains limited. This study used whole-genome sequences of 39 elite and non-elite Icelandic horses to identify candidate causal variants linked to previously identified haplotypes in the STAU2 and RELN genes affecting pace and other gaits. A frameshift variant in linkage disequilibrium with the previously identified haplotypes in the STAU2 gene (r2 = 0.85) was identified within a predicted STAU2 transcript. This variant alters the amino acid sequence and introduces a prema...
Expert commentary on HORSE/MITO18 and CHIPOR.
Journal of gynecologic oncology    April 1, 2025   Volume 36, Issue 2 e87 doi: 10.3802/jgo.2025.36.e87
Karabeg E, Harter P.No abstract available
Running a genetic stop sign accelerates oxygen metabolism and energy production in horses.
Science (New York, N.Y.)    March 28, 2025   Volume 387, Issue 6741 eadr8589 doi: 10.1126/science.adr8589
Castiglione GM, Chen X, Xu Z, Dbouk NH, Bose AA, Carmona-Berrio D, Chi EE, Zhou L, Boronina TN, Cole RN, Wu S, Liu AD, Liu TD, Lu H, Kalbfleisch T....Horses are among nature's greatest athletes, yet the ancestral molecular adaptations fueling their energy demands are poorly understood. Within a clinically important pathway regulating redox and metabolic homeostasis (NRF2/KEAP1), we discovered an ancient mutation-conserved in all extant equids-that increases mitochondrial respiration while decreasing tissue-damaging oxidative stress. This mutation is a de novo premature opal stop codon in KEAP1 that is translationally recoded into a cysteine through previously unknown mechanisms, producing an R15C mutation in KEAP1 that is more sensitive to ...
Progressive evolution of Streptococcus equi from Streptococcus equi subsp. zooepidemicus and adaption to equine hosts.
Microbial genomics    March 28, 2025   Volume 11, Issue 3 doi: 10.1099/mgen.0.001366
Wilson HJ, Dong J, van Tonder AJ, Ruis C, Lefrancq N, McGlennon A, Bustos C, Frosth S, Léon A, Blanchard AM, Holden M, Waller AS, Parkhill J. subsp. causes the equine respiratory disease 'strangles', which is highly contagious, debilitating and costly to the equine industry. emerged from the ancestral subsp. and continues to evolve and disseminate globally. Previous work has shown that there was a global population replacement around the beginning of the twentieth century, obscuring the early genetic events in this emergence. Here, we have used large-scale genomic analysis of and its ancestor to identify evolutionary events, leading to the successful expansion of . One thousand two hundred one whole-genome sequences of were ...
Genetic characteristics of local horse breeds by microsatellite DNA loci.
Vavilovskii zhurnal genetiki i selektsii    March 27, 2025   Volume 29, Issue 1 113-121 doi: 10.18699/vjgb-25-13
Blohina NV, Khrabrova LA.Russia has a significant pedigree diversity of horse breeds with unique gene pools that are well adapted to a wide variety of harsh natural and climatic conditions, are characterized by universal performance and high productive qualities, and are of significant interest to the world horse breeding. Genetic studies of population diversity in horse breeding are very relevant, since many domestic horse breeds are under threat of extinction. Biomaterials (hair, blood, semen) from horses of 15 local breeds bred in the Russian Federation and neighboring countries (CIS) were selected for the research...
Genomic insights into the genetic diversity and genetic basis of body height in endangered Chinese Ningqiang ponies.
BMC genomics    March 24, 2025   Volume 26, Issue 1 292 doi: 10.1186/s12864-025-11484-2
Han J, Shao H, Sun M, Gao F, Hu Q, Yang G, Jafari H, Li N, Dang R.Genetic diversity in livestock and poultry is critical for adapting production systems to future challenges. However, inadequate management practices, particularly in developing countries, have led to the extinction or near extinction of several species. Understanding the genetic composition and historical background of local breeds is essential for their effective conservation and sustainable use. This study compared the genomes of 30 newly sequenced Ningqiang ponies with those of 56 other ponies and 104 horses to investigate genetic diversity, genetic differentiation, and the genetic basis o...
Role of anti-Müllerian hormone in different reproductive aspects of female mammals: women, cow and mare.
Animal health research reviews    March 24, 2025   Volume 24, Issue 2 64-74 doi: 10.1017/S1466252324000021
Muñoz-Jurado A, Requena F, Agüera EI, Escribano BM.Anti-Müllerian hormone (AMH) is a dimeric glycoprotein belonging to the superfamily of the transforming growth factor-β. Due to the discovery of AMH functions, relative to the ovarian function, it is being postulated as being a highly important marker in studies on mammalian reproduction. Therefore, the objective of this review was to describe the role of this hormone in different reproductive aspects of female mammals, taking women, cows, and mares as reference species. The relationship between ovarian reserve and AMH was analysed, and it has been verified that there is a relationship betwe...
Retrospective investigation of 43 necropsy cases of Tyzzer disease in foals and partial genome sequence of Clostridium piliforme by shotgun metagenomics.
Veterinary microbiology    March 22, 2025   Volume 304 110489 doi: 10.1016/j.vetmic.2025.110489
Uprety T, Swan M, Kennedy L, Bryant U, Cassone L, Loynachan A, Janes J, Evely MM, Calvaruso FC, Quick M, Morgan J, Abdelrazek S, Lahmers K, Carter C....Clostridium piliforme is an obligate intracellular filamentous bacterium that causes Tyzzer disease (TD) in many animals. The disease manifests as severe, multifocal necrotizing hepatitis, with a high fatality rate in foals. Through retrospective investigation, we detected C. piliforme in 43 equine necropsy cases from 2012 to 2024. Positive cases were diagnosed from February to July, peaking in May. The age of affected foals ranged from 4 days to 2 months. Histologically, all cases had necrotizing hepatitis with multifocal, coalescing pinpoint, tan or reddish foci. Since only a partial 16S rRN...
Studying the Impact of the DDB2 T338M Missense Mutation on the Development of Equine Squamous Cell Carcinoma and Sarcoid.
Animals : an open access journal from MDPI    March 22, 2025   Volume 15, Issue 7 doi: 10.3390/ani15070911
Quatember H, Nell B, Richter B, Rigler D, Dolezal M, Sykora S, Wallner B.A missense mutation in damage-specific DNA binding protein 2 (DDB2 c.1013 C>T; p.Thr338Met) has been described as a risk factor for ocular squamous cell carcinoma (OSCC) in the Haflinger breed. Here, we examined the impact of DDB2 C>T allele status on the development of OSCC, squamous cell carcinoma (SCC) at other localisations, or equine sarcoid (ES) in Haflingers and other breeds with a high incidence of these tumour types. We genotyped affected Haflinger, Noriker, Warmblood, and Icelandic horses. Results based on 56 Haflingers confirmed the significantly higher risk for OSCC in DDB2-TT Hafl...
Three Novel KIT Polymorphisms Found in Horses with White Coat Color Phenotypes.
Animals : an open access journal from MDPI    March 22, 2025   Volume 15, Issue 7 doi: 10.3390/ani15070915
Obradovic NA, McFadden A, Martin K, Vierra M, McLoone K, Martin E, Thomas A, Everts RE, Brooks SA, Lafayette C.This paper reports three novel KIT variants likely responsible for previously unexplained white patterning phenotypes observed in three groups of horses. White spots and markings may have substantial consequences on the value and health of domesticated horses. This study aims to elucidate the genetic mechanisms underlying depigmented coat colors to aid in producing prosperous herds. Aligned whole genome sequences were manually screened to identify three polymorphisms in a family of Anglo-Arabian horses (N = 7), a family of Warmblood horses (N = 5), and a single stock-type mare with unexplained...
How Nutrigenomics Impacts Equine Health – A Case Study of Vitamin E.
Journal of equine veterinary science    March 21, 2025   105421 doi: 10.1016/j.jevs.2025.105421
Finno CJ.Nutrigenomics defines the interaction between the nutrients in our food and the genes in our body. Examples from human medicine of diseases and associated genes include lactose intolerance (genetic variants in LCT lactase), hypercholesteremia (low density lipoprotein receptor, LDLR) and caffeine sensitivity (adenosine A2A receptor, ADORA2A). In horses, examples include Hyperkalemic Periodic Paralysis (HYPP), where clinical signs of disease are managed through maintaining a diet low in potassium and Polysaccharide Storage Myopathy Type 1 (PSSM1), where low starch and high fat diets are recommen...
A Systematic Literature Review of Mitochondrial DNA Analysis for Horse Genetic Diversity.
Animals : an open access journal from MDPI    March 20, 2025   Volume 15, Issue 6 885 doi: 10.3390/ani15060885
Agbani A, Aminou O, Machmoum M, Germot A, Badaoui B, Petit D, Piro M.This Systematic Literature Review (SLR) consolidates current research on mitochondrial DNA (mtDNA) analysis in horses, focusing on genetic variation, maternal lineage tracing, and haplogroup identification. The article selection process screened 1380 articles, with 76 fulfilling the inclusion criteria. Data extraction covered sampling techniques, studied mtDNA regions, sequencing methods, and haplogroup identification. Following the methodology of the PRISMA guidelines, this review encompasses studies published since 2012, obtained from Scopus, PubMed, Research4Life, Web of Science, and Scienc...
The Effect of Selection on the Two Important Myostatin Gene Mutations in the Dareshouri Horse in the Middle East.
Veterinary medicine and science    March 19, 2025   Volume 11, Issue 2 e70300 doi: 10.1002/vms3.70300
Moroudi RS, Mahboudi H, Mahboudi F.The Dareshouri horse breed is one of Iran's native equine breeds, originating from the Dareshouri tribe, a subgroup of the Qashqai nomads. This breed has a history spanning over 500 years. Horses of this breed have smooth nates, tall stature, raised tails and strong skeletal muscles. This is the first study to investigate the effect of genetics on athletic performance in the Dareshouri breed. For this purpose, in this study, the genotype combination of two important variants, including the rs397152648Single nucleotide polymorphism (SNP) and Short interspersed nuclear element (SINE) insertion, ...
Exploration of the Differential Expression Patterns of Immunoglobulin Heavy Chain Genes in Horses and Donkeys.
Developmental and comparative immunology    March 18, 2025   105360 doi: 10.1016/j.dci.2025.105360
Qiu Y, Jiang J, Yi X, Wang S, Sun X.This study investigated the immunoglobulins (IG) gene locus structure and expression diversity in local Chinese horse and donkey breeds, including Ningqiang, Guanzhong horses, and varieties such as Guanzhong, Jiami, and Northern Shaanxi donkey using genome alignment and high-throughput sequencing. The aim was to expand understanding of IG expression patterns in horses, donkeys, and their different breeds. The results revealed that the donkey IGH locus contains 117 VH genes (23 functional), 44 DH genes, and 8 JH genes, arranged in a VH-DH-JH sequence on chromosome 7, spanning approximately 1189...
Multivariate analysis of morphometric traits of Malkangiri pony – a heritage germplasm of Odisha.
Tropical animal health and production    March 18, 2025   Volume 57, Issue 3 129 doi: 10.1007/s11250-025-04386-8
Dash SK, Panda S, Karna DK, Mishra C, Kalaignazhal G.The present study aimed to identify significant morphometric traits in Malkangiri ponies of Odisha through principal component analysis. The data were collected randomly from 200 ponies aged more than five years and 13 morphometric traits alongwith three indices were recorded. The mean height at wither, height at croup, body length, chest girth, punch girth, height at forearm, height at hock, fetlock to coronet, chest width, neck circumference, poll to wither, wither to croup and croup to head of the tail were 126.7 ± 0.39, 122.6 ± 0.29, 107.9 ± 0.2, 122 ± 0.31, 118.6 ±â...
Genomic Patterns of Homozygosity and Genetic Diversity in the Rhenish German Draught Horse.
Genes    March 11, 2025   Volume 16, Issue 3 327 doi: 10.3390/genes16030327
Sievers J, Distl O.The Rhenish German draught horse is an endangered German horse breed, originally used as working horse in agriculture. Therefore, the objective of this study was to evaluate the breed's genetic diversity using pedigree and genomic data in order to analyze classical and ancestral pedigree-based inbreeding, runs of homozygosity, ROH islands, and consensus ROH. Methods: We studied the genome-wide genotype data of 675 Rhenish German draught horses and collated pedigree-based inbreeding coefficients for these horses. The final dataset contained 64,737 autosomal SNPs. Results: The average number of ...
Genomic regions and candidate genes associated with forehead whorl positioning in Thoroughbred horses.
Journal of equine science    March 10, 2025   Volume 36, Issue 1 11-18 doi: 10.1294/jes.36.11
Yokomori T, Tozaki T, Segawa T, Itou T.Previous studies have examined the relationship between hair characteristics and temperament traits in various animals. A partial genetic association has been suggested in humans because whorl formation and neurological development occur simultaneously during the fetal period. In the horse industry, anecdotal evidence suggests a link between the forehead whorl position and temperament. In our previous study, the heritability of forehead whorl positioning was h=0.653, indicating significant genetic contributions in thoroughbreds. Therefore, in this study, we designed a genome-wide association s...
Late gestation maternal overnutrition alters gene expression and histomorphology in neonatal foal testes.
Journal of animal science    March 4, 2025   Volume 103 skaf060 doi: 10.1093/jas/skaf060
Trauner AM, McCoski SR, Satterfield MC, Bradbery AN.Reproductive health of male offspring following perturbations in maternal nutrition is not well-described in the horse; therefore, the objective of this study was to determine the effects of maternal overnutrition on neonatal foal testicular development. Sixteen Quarter Horse mares were used in a completely randomized design and stratified by expected foaling date, body weight, and body condition score into 1 of 2 dietary treatments beginning on gestational day 235: control (CON; n = 8) fed to meet nutrient requirements and overfed (HIGH; n = 8) fed 40% above CON. At 5 h postpartum, f...
The Genomic Characterization of Equid Alphaherpesviruses: Structure, Function, and Genetic Similarity.
Veterinary sciences    March 3, 2025   Volume 12, Issue 3 228 doi: 10.3390/vetsci12030228
Liu D, Zhao X, Wang X.Equine herpesvirus 1 (EHV-1), EHV-4, EHV-8, and EHV-9, are classified within the subfamily and are recognized as causative agents of respiratory, urogenital, and neurological disorders in horses. These viruses, collectively referred to as αEHVs, exhibits both unique and shared characteristics in terms of host interaction, pathogenesis, epidemiology, and immune evasion, which arise from both the identities and discrepancies among respective genomic homologs. The genomic architecture of αEHVs is similar to other members of the same subfamily, such as well-known HSV-1, VZV, and PRV. However, r...
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