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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.
Cerebellar abiotrophy in a quarter horse foal.
Journal of equine veterinary science    February 16, 2025   Volume 147 105386 doi: 10.1016/j.jevs.2025.105386
Primo ALM, Assis DM, Santos VGS, de Melo LRB, da Nóbrega LD, Medeiros Dantas AF, Maciel TA.Cerebellar abiotrophy is a neurodegenerative disease that affects the Purkinje cells of the cerebellum, resulting in premature neuronal death. In horses, its occurrence has been reported mainly in the Arabian breed as a congenital mutation inherited in an autosomal recessive manner. The objective of this study was to describe the case of cerebellar abiotrophy in a Quarter Horse foal. An 8-day-old foal was treated after presenting signs of ataxia, hypermetria, difficulty maintaining a standing position, and decreased menace response. The foal was hospitalized for 26 days, received treatment wit...
A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis.
Animal genetics    February 16, 2025   Volume 56, Issue 1 e70004 doi: 10.1111/age.70004
van der Graaf L, Leigh W, Szmatoła T, Roberts K, Ryan S, Brown B, Van Buren S, Finno CJ, Petersen JL.Anhidrosis is defined as a decreased or absent ability to sweat in response to heat and exercise. In horses, this condition can increase the risk of life-threatening hyperthermia. A prior study has suggested that equine anhidrosis is associated with a missense variant (rs68643109) in the Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4 (KCNE4) gene. This project aimed to validate this association in a population of well-phenotyped horses and to determine the allele frequency of this variant in publicly available whole-genome sequence data. Fifty horses within the University of ...
Sequencing and Assembling the Genome of Przewalski’s Horse in the Classroom.
Journal of equine veterinary science    February 15, 2025   105383 doi: 10.1016/j.jevs.2025.105383
Faulk C.Sequencing a genome by students has now become practical as we demonstrated with our recent publication of the Przewalski's horse (Equus ferus przewalskii) genome. In this review, I describe my experience teaching genome assembly in the classroom. In my course, students sequenced, assembled, and published a high-quality genome for Przewalski's horse using Oxford Nanopore long-read sequencing with only $4000 of materials. Along with the genome, we assembled the mitochondrial genome, sequence variants, predicted gene annotations, and DNA methylation levels. Our genome statistics far exceeded the...
Comparative phylogenetic and sequence identity analysis of internal transcribed spacer 2 and cytochrome C oxidase subunit I as DNA barcode markers for the most common equine Strongylidae species. Diekmann I, Krücken J, Kuzmina TA, Bredtmann CM, Louro M, Kharchenko VA, Tzelos T, Matthews JB, Madeira de Carvalho LM, von Samson-Himmelstjerna G.Morphologically, 64 strongylid species have been described in equines. Co-infections are common, with up to 29 species reported in a single horse. Morphological identification of these species is time consuming and requires expert knowledge due to their similar appearance. Therefore, non-invasive identification methods are needed. DNA barcoding offers a rapid and reliable tool for species identification and the discovery of cryptic species for these most common parasitic nematodes of equines. In total, 269 COI and 312 ITS-2 sequences from 27 equine Strongylidae species, including sequences fro...
Innate Immunity Toll-Like Triad TLR6-1-10 and Its Diversity in Distinct Horse Breeds.
Veterinary medicine and science    February 7, 2025   Volume 11, Issue 2 e70230 doi: 10.1002/vms3.70230
Stejskalova K, Vychodilova L, Janova E, Oppelt J, Horin P.Toll-like receptors (TLRs) play important roles in innate immunity and developmental processes. Due to their nature as molecular pattern recognition receptors, their genetic diversity may reflect the effects of various pathogen pressures. Here, the extent of variability in the TLR1-6-10 gene cluster in three geographically and historically distinct breeds of horses was analysed. A genetically diverse group of representatives of 14 other horse breeds provided additional information on the variability of this gene cluster in the domestic horse. Altogether, 25 SNPs were identified in the TLR6-1-1...
Estimation of genetic parameters of body conformation and racing performance traits in Yili horses.
Journal of equine veterinary science    February 6, 2025   Volume 146 105378 doi: 10.1016/j.jevs.2025.105378
Wang C, Zeng Y, Wang J, Wang T, Li X, Shen Z, Meng J, Yao X.The Yili horse is a riding-type breed that has been continuously bred independently in China. The genetics of body conformation and racing performance traits need to be comprehensively considered in making breeding decisions. This study is the first to estimate the genetic parameters of 13 body conformation and racing performance traits in Yili horses using a linear model. In total, 9937 body conformation and 2576 race records of 9100 Yili horses obtained from 1993 to 2022 were reviewed. The results showed that heritability estimates of body measurement traits were medium to high, ranging from...
CENP-A/CENP-B uncoupling in the evolutionary reshuffling of centromeres in equids.
Genome biology    February 6, 2025   Volume 26, Issue 1 23 doi: 10.1186/s13059-025-03490-0
While CENP-A is the epigenetic determinant of the centromeric function, the role of CENP-B, a centromeric protein binding a specific DNA sequence, the CENP-B-box, remains elusive. In the few mammalian species analyzed so far, the CENP-B box is contained in the major satellite repeat that is present at all centromeres, with the exception of the Y chromosome. We previously demonstrated that, in the genus Equus, numerous centromeres lack any satellite repeat. Results: In four Equus species, CENP-B is expressed but does not bind the majority of satellite-based centromeres, or the satellite-free on...
Molecular Diagnosis and Identification of Equine Piroplasms: Challenges and Insights from a Study in Northern Italy.
Animals : an open access journal from MDPI    February 5, 2025   Volume 15, Issue 3 437 doi: 10.3390/ani15030437
Facile V, Magliocca M, Dini FM, Imposimato I, Mariella J, Freccero F, Urbani L, Rinnovati R, Sel E, Gallina L, Castagnetti C, Galuppi R, Battilani M....Equine piroplasmosis is a tick-borne disease caused by and species. Despite its presence in Europe, no laboratory testing is required for animal movement, even though some countries remain free of this disease. Differentiating between species and genotypes is crucial to determine the most effective treatment, as dosage, active compounds, and duration vary. However, diagnosis is often challenging due to genetic variability and the limited sensitivity of molecular methods. The aims of this study were to compare the performances of different molecular diagnostic tests to identify the most effec...
The value of using multilevel performances (from recreational to international) to the genetic evaluation for show jumping performance in Warmblood horses.
Animal : an international journal of animal bioscience    February 5, 2025   Volume 19, Issue 3 101455 doi: 10.1016/j.animal.2025.101455
Chapard L, Gorssen W, Meyermans R, Hooyberghs K, Buys N, Janssens S.Show jumping is a popular equestrian sport that requires a unique combination of jumping capacity and rideability. It has been shown that genetics play an important role in show jumping performance that has significant implications for horse breeding programmes. This gives an important opportunity for studbooks to breed horses with the potential to perform at the highest level in show jumping competitions. However, show jumping competitions are performed at various levels (from recreational to international level) but only national competition results are used by Warmblood studbooks in most ge...
Effects of Combined Transcriptome and Metabolome Analysis Training on Athletic Performance of 2-Year-Old Trot-Type Yili Horses.
Genes    February 4, 2025   Volume 16, Issue 2 197 doi: 10.3390/genes16020197
Yang L, Li P, Huang X, Wang C, Zeng Y, Wang J, Yao X, Meng J.Training is essential for enhancing equine athletic performance, but the genetic mechanisms that regulate athletic performance are unknown. Therefore, this paper aims to identify candidate genes and metabolic pathways for the effects of training on equine athletic performance through multi-omics analyses. Methods: The experiment selected 12 untrained trot-type Yili horses, which underwent a 12-week professional training program. Blood samples were collected at rest before training (BT) and after training (AT). Based on their race performance, whole blood and serum samples from 4 horses were ch...
Polysaccharide Storage Myopathy.
The Veterinary clinics of North America. Equine practice    January 31, 2025   Volume 41, Issue 1 125-137 doi: 10.1016/j.cveq.2024.11.004
Firshman AM, Valberg SJ.Type 1 Polysaccharide Storage Myopathy (PSSM1) is an autosomal dominant glycogen storage disorder affecting more than 20 breeds of horses that can present with a variety of signs, including exertional rhabdomyolysis (ER). It is diagnosed by genetic testing or muscle biopsies containing muscle fibers with abnormal amylase-resistant polysaccharide. Type 2 PSSM has recently been subdivided. PSSM2-ER is a glycogen storage disorder identified in Quarter Horses that causes ER and is diagnosed by muscle biopsy as its genetic basis is unknown. Both PSSM1 and PSSM2-ER respond well to a low nonstructura...
Core genome multilocus sequence typing schemes for epidemiological investigation of Taylorella equigenitalis and Taylorella asinigenitalis.
Veterinary microbiology    January 30, 2025   Volume 302 110419 doi: 10.1016/j.vetmic.2025.110419
Kozak S, Merda D, Chesnais V, Breuil MF, Harrison M, Zdovc I, Golob M, Petry S, Duquesne F.Taylorella equigenitalis is the causative agent of contagious equine metritis, an internationally regulated sexually-transmitted infection in horses, which is of great concern as it usually results in temporary infertility. Taylorella asinigenitalis, the second member of the genus, is mainly found in donkeys and is considered non-pathogenic, although a first natural outbreak was reported in 2019 in the United Arab Emirates. Multilocus sequence typing (MLST) is currently used to study the epidemiology of Taylorella spp. but, while highly transposable and reproducible, it only focuses on < 0.5...
A comprehensive allele specific expression resource for the equine transcriptome.
BMC genomics    January 30, 2025   Volume 26, Issue 1 88 doi: 10.1186/s12864-025-11240-6
Heath HD, Peng S, Szmatola T, Ryan S, Bellone RR, Kalbfleisch T, Petersen JL, Finno CJ.Allele-specific expression (ASE) analysis provides a nuanced view of cis-regulatory mechanisms affecting gene expression. Results: An equine ASE analysis was performed, using integrated Iso-seq and short-read RNA sequencing data from four healthy Thoroughbreds (2 mares and 2 stallions) across 9 tissues from the Functional Annotation of Animal Genomes (FAANG) project. Allele expression was quantified by haplotypes from long-read data, with 42,900 allele expression events compared. Within these events, 635 (1.48%) demonstrated ASE, with liver tissue containing the highest proportion. Genetic var...
Genome sequence of Equine Erythroparvovirus 1, identified in the United States.
Microbiology resource announcements    January 29, 2025   e0089724 doi: 10.1128/mra.00897-24
Yu YT, Olarte Castillo X, Reboul G, Zehr J, Sun Y, Anderson R, Wang M, Sun Q, Tallmadge R, Sams K, Brown J, Marra N, Stanhope B, Grenier J.... is a parvovirus that was identified in the blood of four horses in the United States. Here, we report one genome from a horse in New York State. This genome may represent a new species within the genus .
Genetics of Muscle Disease.
The Veterinary clinics of North America. Equine practice    January 28, 2025   S0749-0739(24)00088-9 doi: 10.1016/j.cveq.2024.10.002
Finno CJ.In the field of equine muscle disorders, many conditions have a genetic basis. Therefore, genetic testing is an important part of the diagnostic evaluation. Validated genetic tests are currently available for 5 equine muscle disorders: hyperkalemic periodic paralysis, malignant hyperthermia, glycogen branching enzyme disease, type 1 polysaccharide storage myopathy, and myosin heavy chain myopathy. These diseases should be tested for in the appropriate breeds with clinical signs of disease or as part of breeding management. Genetic testing in veterinary medicine is not regulated, and therefore,...
Myosin Heavy Chain Myopathy and Immune-Mediated Muscle Disorders.
The Veterinary clinics of North America. Equine practice    January 28, 2025   Volume 41, Issue 1 61-75 doi: 10.1016/j.cveq.2024.10.005
Durward-Akhurst SA, Valberg SJ.Several inflammatory myopathies have an infectious or immune-mediated basis in the horse. Myosin heavy chain myopathy is caused by a codominant missense variant in MYH1 and has 3 clinical presentations: immune-mediated myositis, calciphylaxis, and nonexertional rhabdomyolysis in Quarter Horse-related breeds. An infarctive form of purpura hemorrhagica affects numerous breeds, presenting with focal firm, painful muscle swelling, and subsequent infarction of multiple tissues. While Streptococcus equi equi is often the inciting cause, anaplasmosis, sarcocystis, piroplasmosis, viruses, and vaccines...
Disorders of Muscle Mass and Tone.
The Veterinary clinics of North America. Equine practice    January 28, 2025   Volume 41, Issue 1 47-60 doi: 10.1016/j.cveq.2024.10.004
Aleman M.Muscle disease has various clinical manifestations that range from exertional and non-exertional rhabdomyolysis, fasciculations, weakness, rigidity, stiffness, gait abnormalities, poor performance, and alterations in muscle mass and tone. Neurogenic disorders and non-neurogenic disorders such as primary muscle disease can cause muscle atrophy and changes in muscle tone. Myotonic disorders can have a genetic (eg, inherited channelopathies) or acquired (eg, electrolyte derangements) origin. Normal muscle enzyme activities do not rule out a myopathic disorder as the underlying cause of muscle atr...
From cytogenetics to cytogenomics: a new era in the diagnosis of chromosomal abnormalities in domestic animals.
Journal of applied genetics    January 27, 2025   Volume 66, Issue 3 661-673 doi: 10.1007/s13353-025-00943-x
Switonski M, Szczerbal I, Nowacka-Woszuk J.Identification of chromosomal abnormalities is an important issue in animal breeding and veterinary medicine. Routine cytogenetic diagnosis of domestic animals began in the 1960s with the aim of identifying carriers of centric fusion between chromosome 1 and 29 in cattle. In the 1970s, chromosome banding techniques were introduced, and in the 1980s, the first cytogenomic techniques, based on the development of locus- and chromosome-specific probes, were used. Since the beginning of the twenty-first century, molecular techniques (such as polymorphism of microsatellite markers, droplet digital P...
Inherited non-syndromic polydactyly in a Berber and Arabian-Berber horse family.
Equine veterinary journal    January 24, 2025   doi: 10.1111/evj.14472
Baville E, Carstanjen B, Thomas-Cancian A, Calgaro A, Bonnet N, Tiret L, Gache V, Abitbol M.Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported. Objective: To characterise the phenotype of a non-syndromic pre-axial polydactyly in a horse family and to decipher the inheritance pattern. Methods: Retrospective study. Methods: Forty-three members of the family including a previously reported polydactyl case were recruited. Available clinica...
Comparative Analysis of Genomic and Pedigree-Based Approaches for Genetic Evaluation of Morphological Traits in Pura Raza Española Horses.
Genes    January 23, 2025   Volume 16, Issue 2 131 doi: 10.3390/genes16020131
Ziadi C, Demyda-Peyrás S, Valera M, Perdomo-González D, Laseca N, Rodríguez-Sainz de Los Terreros A, Encina A, Azor P, Molina A.The single-step best linear unbiased predictor (ssGBLUP) has emerged as a reference method for genomic selection in recent years due to its advantages over traditional approaches. Although its application in horses remains limited, ssGBLUP has demonstrated the potential to improve the reliability of estimated breeding values in livestock species. This study aimed to assess the impact of incorporating genomic data using single-step restricted maximum likelihood (ssGREML) on reliability (R) in the Pura Raza Española (PRE) horse breed, compared to traditional pedigree-based REML. Methods: The an...
Unraveling the distinctive gut microbiome of khulans (Equus hemionus hemionus) in comparison to their drinking water and closely related equids.
Scientific reports    January 22, 2025   Volume 15, Issue 1 2767 doi: 10.1038/s41598-025-87216-z
Jarquín-Díaz VH, Dayaram A, Soilemetzidou ES, Desvars-Larrive A, Bohner J, Buuveibaatar B, Kaczensky P, Walzer C, Greenwood AD, Löber U.The microbial composition of host-associated microbiomes is influenced by co-evolutionary interactions, host genetics, domestication, and the environment. This study investigates the contribution of environmental microbiota from freshwater bodies to the gastrointestinal microbiomes of wild khulans (Equus hemionus hemionus, n = 21) and compares them with those of captive khulans (n = 12) and other equids-Przewalski's horse (n = 82) and domestic horse (n = 26). Using PacBio technology and the LotuS pipeline for 16S rRNA gene sequencing, we analyze microbial diversity and conduct ...
Identification of a global gene expression signature associated with the genetic risk of catastrophic fracture in iPSC-derived osteoblasts from Thoroughbred horses.
Animal genetics    January 13, 2025   Volume 56, Issue 1 e13504 doi: 10.1111/age.13504
Palomino Lago E, Ross AKC, McClellan A, Guest DJ.Bone fractures are a significant problem in Thoroughbred racehorses. The risk of fracture is influenced by both genetic and environmental factors. To determine the biological processes that are affected in genetically susceptible horses, we utilised polygenic risk scoring to establish induced pluripotent stem cells (iPSCs) from horses at high and low genetic risk. RNA-sequencing on iPSC-derived osteoblasts revealed 112 genes that were significantly differentially expressed. Forty-three of these genes have known roles in bone, 27 are not yet annotated in the equine genome and 42 currently have ...
Genomic analysis and replication kinetics of the closely related EHV-1 neuropathogenic 21P40 and abortigenic 97P70 strains.
Veterinary research    January 13, 2025   Volume 56, Issue 1 12 doi: 10.1186/s13567-024-01434-3
Mohamed E, Zarak I, Vereecke N, Theuns S, Laval K, Nauwynck H.Varicellovirus equidalpha 1, formerly known as Equid alphaherpesvirus 1 (EHV-1), is highly prevalent and can lead to various problems, such as respiratory problems, abortion, neonatal foal death, and neurological disorders. The latter is known as equine herpes myeloencephalopathy (EHM). Cases of EHM have significantly increased since the beginning of the twenty-first century. The genomic sequences of five isolates associated with the fatal neurological outbreak in Valencia, Spain, in 2021 were analyzed and documented. The genome and replication kinetics of the Belgian EHM isolate 21P40, associ...
Genome wide landscaping of copy number variations for horse inter-breed variability.
Animal biotechnology    January 10, 2025   Volume 36, Issue 1 2446251 doi: 10.1080/10495398.2024.2446251
Sharma NK, Singh P, Saha B, Bhardwaj A, Iquebal MA, Pal Y, Nayan V, Jaiswal S, Giri SK, Legha RA, Bhattacharya TK, Kumar D, Rai A.Copy number variations (CNVs) have become widely acknowledged as a significant source of genomic variability and phenotypic variance. To understand the genetic variants in horses, CNVs from six Indian horse breeds, namely, Manipuri, Zanskari, Bhutia, Spiti, Kathiawari and Marwari were discovered using Axiom™ Equine Genotyping Array. These breeds differed in agro-climatic adaptation with distinct phenotypic characters. A total of 2668 autosomal CNVs and 381 CNV regions (CNVRs) were identified with PennCNV tool. DeepCNV was employed to re-validate to get 883 autosomal CNVs, of which 9.06% were...
A genome-wide association study for recurrent laryngeal neuropathy in the Thoroughbred horse identifies a candidate gene that regulates myelin structure.
Equine veterinary journal    January 10, 2025   doi: 10.1111/evj.14461
McGivney CL, McGivney BA, Farries G, Gough KF, Han H, Holtby AR, MacHugh DE, Katz LM, Hill EW.Equine recurrent laryngeal neuropathy (RLN) is an economically important upper respiratory tract (URT) disease with a genetic contribution to risk, but genetic variants independent of height have not been identified for Thoroughbreds. The method of clinical assessment for RLN is critical to accurately phenotype groups for genetic studies. Objective: To identify genetic risk loci for RLN in Thoroughbreds in a genome-wide association study (GWAS) following high-resolution phenotyping. Methods: Case-control. Methods: Thoroughbred horses were characterised as RLN cases and controls using resting a...
Systemic calcinosis in horses: Pathological and genetic aspects.
Equine veterinary journal    January 6, 2025   doi: 10.1111/evj.14464
Carvalho Serena G, Marchezan Piva M, Viezzer Bianchi M, Fernandes da Fonseca HC, Chitolina Pupin R, Martins Basso R, Secorun Borges A....In horses, systemic calcinosis is a rare syndrome characterised by muscle lesion associated with the mineralisation of large muscle groups or other organs, in the absence of an alternative cause for the calcification, such as toxic, enzootic or metabolic. Molecular and histopathological aspects of the disease are still poorly elucidated. Objective: To describe the epidemiological, pathological and molecular aspects of systemic calcinosis in a convenience sample of six horses submitted to necropsy in the Southern and Midwestern regions of Brazil. Methods: Retrospective exploratory study. Method...
Single-Step Genome-Wide Association Study of Factors for Evaluated and Linearly Scored Traits in Swedish Warmblood Horses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    January 4, 2025   Volume 142, Issue 5 499-512 doi: 10.1111/jbg.12923
Nazari-Ghadikolaei A, Fikse WF, Viklund ÅG, Mikko S, Eriksson S.Swedish Warmblood horses (SWB) are bred for show jumping and/or dressage with young horse test scores as indicator traits. This study aimed to investigate possible candidate genes and regions of importance for evaluated and linearly scored young horse test traits. A single-step genome-wide association study (ssGWAS) was done using the BLUPF90 suite of programs for factors scores from factor analysis of traits assessed at young horse tests together with height at withers. The ssGWAS included 20,814 SWB with factors scores for four factors for evaluated traits. A total of 6436 of these horses al...
Characterisation of Staphylococcus aureus Strains and Their Prophages That Carry Horse-Specific Leukocidin Genes lukP/Q.
Toxins    January 3, 2025   Volume 17, Issue 1 20 doi: 10.3390/toxins17010020
Monecke S, Burgold-Voigt S, Feßler AT, Krapf M, Loncaric I, Liebler-Tenorio EM, Braun SD, Diezel C, Müller E, Reinicke M, Reissig A, Cabal Rosel A....Leukocidins of (.) are bicomponent toxins that form polymeric pores in host leukocyte membranes, leading to cell death and/or triggering apoptosis. Some of these toxin genes are located on prophages and are associated with specific hosts. The genes have been described from equine isolates. We examined the genomes, including the prophages, of strains belonging to clonal complexes CC1, CC350, CC816, and CC8115. In addition to sequencing, phages were characterised by mitomycin C induction and transmission electron microscopy (TEM). All prophages integrated into the = gene, and all included...
Factors associated with the selling price of sport horses in public auctions in Ireland.
Journal of equine veterinary science    January 3, 2025   105347 doi: 10.1016/j.jevs.2025.105347
Corbally AF, Fahey AG.Sale prices at auction significantly impact the economic return of sport horse production. This study aimed to determine factors associated with auction sales prices of sport horses at four maturity stages: foals, juveniles, young horses, and older horses. A total of 42,799 sales records from 2003 to 2022 were obtained from two Irish equine auction companies. A univariate regression model was used, and significant variables underwent multivariate analysis. Within each maturity category, factors associated with above-mean-priced horses differed from those associated with below-mean-priced horse...
Molecular Characterization of Bovine Deltapapillomavirus in Equine Sarcoids in Egypt.
Veterinary medicine international    January 3, 2025   Volume 2025 9773642 doi: 10.1155/vmi/9773642
Sobhy NM, Refaai W, Kumar R, Bottros Youssef CR, Goyal SM.Bovine papillomaviruses (BPVs) commonly cause sarcoids in equines worldwide. Equine sarcoids (ESs) reduce the working ability of draft animals and produce untoward cosmetic changes in racing and dancing equine. In this study, nine horses and 16 donkeys with sarcoids were presented to Zagazig University Veterinary Clinic, Zagazig, Egypt. Of these, eight horses and six donkeys were found to be infected with BPV. On sequencing, all 14 viruses were found to be BPV1, which were distributed in two clades without specific differentiation among papillomaviruses (PVs) of donkeys, horses, and cattle. Co...
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