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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.
Development of a recombinant protein-based ELISA for diagnosis of larval cyathostomin infection.
Parasitology    May 13, 2016   Volume 143, Issue 8 1055-1066 doi: 10.1017/S0031182016000627
Mitchell MC, Tzelos T, Handel I, McWilliam HE, Hodgkinson JE, Nisbet AJ, Kharchenko VO, Burgess ST, Matthews JB.Cyathostomins are ubiquitous nematodes of horses. Once ingested, they can spend a substantial time as encysted larvae in the intestinal wall. The larvae can comprise up to 90% of the total burden, with up to several million worms reported in individuals. These stages can emerge in large numbers to cause life-threatening colitis. Direct methods for detection of encysted larval burdens in live horses do not exist. Previously, two antigen complexes were identified as promising markers for infection. A component of these, cyathostomin gut associated larval antigen-1 (Cy-GALA-1), was identified fol...
Establishment and characterization of fetal equine kidney and lung cells with extended lifespan. Susceptibility to equine gammaherpesvirus infection and transfection efficiency.
In vitro cellular & developmental biology. Animal    May 12, 2016   Volume 52, Issue 8 872-877 doi: 10.1007/s11626-016-0046-9
Thorsteinsdóttir L, Torsteinsdóttir S, Svansson V.Due to the slow growth of equine gammaherpesviruses, isolation of these viruses requires cells that can be propagated long term and show clear cytopathy following infection. Equine cell lines with extended lifespan were established from primary cells originating from equine fetal kidney and lung by transfecting the cells with the retroviral vector LXSN116E6E7 containing the human papilloma virus oncogenes 16 E6 and E7. The transfected equine kidney cell line and equine lung cell line can be propagated for more than 40 passages, whereas the corresponding primary cells only for 10-12 passages. T...
Effective population sizes in cattle, sheep, horses, pigs and goats estimated from census and herdbook data.
Animal : an international journal of animal bioscience    May 10, 2016   Volume 10, Issue 11 1778-1785 doi: 10.1017/S1751731116000914
Hall SJ.Accurate measures of effective population sizes (Ne ) in livestock require good quality data and specialized skills for their computation and analysis. Ne can be estimated by Wright's equation Ne =4MF/(M+ F) (M, F being sires and dams, respectively), but this requires assumptions which are often not met. Total census sizes Nc of livestock breeds are collated globally. This paper investigates whether estimates of Ne can be made from Nc ; this would facilitate conservation monitoring. Some Ne methodologies avoid the assumptions of Wright's equation and permit measurement, rather than estimation,...
Transposable Element Targeting by piRNAs in Laurasiatherians with Distinct Transposable Element Histories.
Genome biology and evolution    May 9, 2016   Volume 8, Issue 5 1327-1337 doi: 10.1093/gbe/evw078
Vandewege MW, Platt RN, Ray DA, Hoffmann FG.PIWI proteins and PIWI-interacting RNAs (piRNAs) are part of a cellular pathway that has evolved to protect genomes against the proliferation of transposable elements (TEs). PIWIs and piRNAs assemble into complexes that are involved in epigenetic and post-transcriptional repression of TEs. Most of our understanding of the mechanisms of piRNA-mediated TE silencing comes from fruit fly and mouse models. However, even in these well-studied animals it is unclear how piRNA responses relate to variable TE expression and whether the strength of the piRNA response affects TE content over time. Here, w...
Cytosine methylation of sperm DNA in horse semen after cryopreservation.
Theriogenology    May 6, 2016   Volume 86, Issue 5 1347-1352 doi: 10.1016/j.theriogenology.2016.04.077
Aurich C, Schreiner B, Ille N, Alvarenga M, Scarlet D.Semen processing may contribute to epigenetic changes in spermatozoa. We have therefore addressed changes in sperm DNA cytosine methylation induced by cryopreservation of stallion semen. The relative amount of 5-methylcytosine relative to the genomic cytosine content of sperm DNA was analyzed by ELISA. In experiment 1, raw semen (n = 6 stallions, one ejaculate each) was shock-frozen. Postthaw semen motility and membrane integrity were completely absent, whereas DNA methylation was similar in raw (0.4 ± 0.2%) and shock-frozen (0.3 ± 0.1%) semen (not significant). In experiment 2, three ej...
Type of Inflammation Differentially Affects Expression of Interleukin 1β and 6, Tumor Necrosis Factor-α and Toll-Like Receptors in Subclinical Endometritis in Mares.
PloS one    May 6, 2016   Volume 11, Issue 5 e0154934 doi: 10.1371/journal.pone.0154934
Siemieniuch MJ, Szóstek AZ, Gajos K, Kozdrowski R, Nowak M, Okuda K.Mares that fail to conceive or lose their embryos, without showing typical signs of clinical endometritis, should be suspected of subclinical endometritis (SE). In this study, the question was addressed: does SE fully activate selected mechanisms of innate immunity in mares? For this aim, expression of mRNAs for Toll-like Receptor 2 and 4 (TLR 2/4), interleukin 1β (IL-1β), interleukin 6 (IL-6) and tumor necrosis factor α (TNF) was examined in control mares versus either mares suffering from chronic endometritis (ChE) or subacute suppurative endometritis (SSE). The concentrations of IL-1β, ...
Host genetic influence on papillomavirus-induced tumors in the horse.
International journal of cancer    May 6, 2016   Volume 139, Issue 4 784-792 doi: 10.1002/ijc.30120
Staiger EA, Tseng CT, Miller D, Cassano JM, Nasir L, Garrick D, Brooks SA, Antczak DF.The common equine skin tumors known as sarcoids have been causally associated with infection by bovine papillomavirus (BPV). Additionally, there is evidence for host genetic susceptibility to sarcoids. We investigated the genetic basis of susceptibility to sarcoid tumors on a cohort of 82 affected horses and 270 controls genotyped on a genome-wide platform and two custom panels. A Genome Wide Association Study (GWAS) identified candidate regions on six chromosomes. Bayesian probability analysis of the same dataset verified only the regions on equine chromosomes (ECA) 20 and 22. Fine mapping us...
Genome-wide association mapping of heritable temperament variation in the Tennessee Walking Horse.
Genes, brain, and behavior    May 5, 2016   Volume 15, Issue 5 514-526 doi: 10.1111/gbb.12290
Staiger EA, Albright JD, Brooks SA.Temperament is a key criterion in the selection of horses for both leisure and competitive riding to ensure optimal performance and safety. The Tennessee Walking Horse (TWH) is described as a calm, docile breed and is often used as a trail, show and pleasure horse. However, among horse owners and caretakers, there are anecdotes supporting familial and disciplinal typical behaviors and personalities. To investigate the contribution of genetics to temperament, we collected a behavior questionnaire, brief training history and identifying information for 276 TWH, as well as blood or hair samples f...
Loci impacting polymorphic gait in the Tennessee Walking Horse.
Journal of animal science    May 3, 2016   Volume 94, Issue 4 1377-1386 doi: 10.2527/jas.2015-9936
Staiger EA, Abri MA, Silva CA, Brooks SA.Following domestication, man selected the horse primarily for the purpose of transportation rather than consumption; this selective strategy created divergent traits for locomotion. At intermediate speeds, beyond the flat walk, the horse can perform a range of diagonal and lateral 2-beat or 4-beat gait patterns. The Tennessee Walking Horse (TWH) is the only U.S. breed able to perform an even-timed 4-beat gait (the "running-walk") at intermediate speeds; however, within the breed, there is remaining variation in gait type. To investigate the contribution of genetics to this unique trait, blood ...
Is Malassezia nana the main species in horses’ ear canal microbiome?
Brazilian journal of microbiology : [publication of the Brazilian Society for Microbiology]    April 29, 2016   Volume 47, Issue 3 770-774 doi: 10.1016/j.bjm.2016.04.017
Aldrovandi AL, Osugui L, Acqua Coutinho SD.The objective of this study was to characterize genotypically Malassezia spp. isolated from the external ear canal of healthy horses. Fifty-five horses, 39 (70.9%) males and 16 (29.1%) females, from different breeds and adults were studied. External ear canals were cleaned and a sterile cotton swab was introduced to collect cerumen. A total of 110 samples were cultured into Dixon medium and were incubated at 32°C for up to 15 days. Macro- and micromorphology and phenotypic identification were performed. DNA was extracted, strains were submitted to polymerase chain reaction technique, and the ...
Proteome of equine oviducal fluid: effects of ovulation and pregnancy.
Reproduction, fertility, and development    April 28, 2016   Volume 29, Issue 6 1085-1095 doi: 10.1071/RD15481
Smits K, Nelis H, Van Steendam K, Govaere J, Roels K, Ververs C, Leemans B, Wydooghe E, Deforce D, Van Soom A.The equine oviduct plays a pivotal role in providing the optimal microenvironment for early embryonic development, but little is known about the protein composition of the oviducal fluid in the horse. The aim of the present study was to provide a large-scale identification of proteins in equine oviducal fluid and to determine the effects of ovulation and pregnancy. Four days after ovulation, the oviducts ipsilateral and contralateral to the ovulation side were collected from five pregnant and five non-pregnant mares. Identification and relative quantification of proteins in the oviducal fluid ...
Revelation of Influencing Factors in Overall Codon Usage Bias of Equine Influenza Viruses.
PloS one    April 27, 2016   Volume 11, Issue 4 e0154376 doi: 10.1371/journal.pone.0154376
Kumar N, Bera BC, Greenbaum BD, Bhatia S, Sood R, Selvaraj P, Anand T, Tripathi BN, Virmani N.Equine influenza viruses (EIVs) of H3N8 subtype are culprits of severe acute respiratory infections in horses, and are still responsible for significant outbreaks worldwide. Adaptability of influenza viruses to a particular host is significantly influenced by their codon usage preference, due to an absolute dependence on the host cellular machinery for their replication. In the present study, we analyzed genome-wide codon usage patterns in 92 EIV strains, including both H3N8 and H7N7 subtypes by computing several codon usage indices and applying multivariate statistical methods. Relative synon...
Genetic relationship between the Nordestino horse and national and international horse breeds.
Genetics and molecular research : GMR    April 26, 2016   Volume 15, Issue 2 doi: 10.4238/gmr.15027881
Pires DA, Coelho EG, Melo JB, Oliveira DA, Ribeiro MN, Gus Cothran E, Juras R.Knowledge of genetic diversity and relationships between breeds is very important for conservation programs. Hair samples were collected from 393 individual Nordestino horses and genotyped using 14 microsatellite markers in order to investigate the genetic relationship between this breed and 66 international horse breeds. There was high allelic diversity and inbreeding coefficient within population values were not significant, which was probably due to crossbreeding. Despite the Nordestino horse population being in Hardy-Weinberg equilibrium, a global deficit of heterozygotes was observed. Thi...
In vitro production of Trypanosoma equiperdum antigen and its evaluation for use in serodiagnosis of dourine.
Veterinary parasitology    April 23, 2016   Volume 223 133-140 doi: 10.1016/j.vetpar.2016.04.032
Bassarak B, Moser I, Menge C.A modified Baltz's in vitro cultivation system for the propagation of Trypanosoma equiperdum strain OVI was established to develop a replacement for the conventional production procedure of dourine diagnostic antigen in rats. To increase trypanosome yields we designed an optimized culture medium by addition of supplemental compounds. Trypanosomes were adapted to this medium by two succeeding cultivation steps which led to a substantial proliferation rate and an increased cell density tolerance, respectively. As a result, adapted parasites could be propagated to maximum cell densities of >2...
Stenamoeba polymorpha, a New Species Isolated from Domesticated Horse Equus ferus caballus.
The Journal of eukaryotic microbiology    April 22, 2016   Volume 63, Issue 6 698-708 doi: 10.1111/jeu.12317
Peglar MT, Nerad TA, Anderson OR.A new species of lobosean amoeba, Stenamoeba polymorpha n. sp., was isolated from the diarrheic stool of a domesticated horse in Great Falls Virginia, U.S. It shares characteristics with the five other described Stenamoeba species. However, electron microscopy revealed S. polymorpha has a substantially thickened cell surface lamina. Under light microscopy, the amoebae had a dynamic polymorphic appearance because hyaloplasm readily formed and resorbed subpseudopodia from any peripheral region of the cell. While in locomotion, the amoebae produced subpseudopodia that led and alternated the dire...
Embryo-maternal communication during the first 4 weeks of equine pregnancy.
Theriogenology    April 21, 2016   Volume 86, Issue 1 349-354 doi: 10.1016/j.theriogenology.2016.04.048
Stout TA.The first month of equine pregnancy covers a period of rapid growth and development, during which the single-cell zygote metamorphoses into an embryo with a functional circulation and precursors of many important organs, enclosed within extraembryonic membranes responsible for nutrient uptake and gaseous exchange. After exiting the oviduct, the conceptus must influence uterine physiology to ensure adequate nutrition and preparation for implantation, while continued development results in the chorioallantois superseding the yolk sac as the primary interface for maternal interaction and exchange...
Genetic variability of the equine casein genes.
Journal of dairy science    April 20, 2016   Volume 99, Issue 7 5486-5497 doi: 10.3168/jds.2015-10652
Brinkmann J, Jagannathan V, Drögemüller C, Rieder S, Leeb T, Thaller G, Tetens J.The casein genes are known to be highly variable in typical dairy species, such as cattle and goat, but the knowledge about equine casein genes is limited. Nevertheless, mare milk production and consumption is gaining importance because of its high nutritive value, use in naturopathy, and hypoallergenic properties with respect to cow milk protein allergies. In the current study, the open reading frames of the 4 casein genes CSN1S1 (αS1-casein), CSN2 (β-casein), CSN1S2 (αS2-casein), and CSN3 (κ-casein) were resequenced in 253 horses of 14 breeds. The analysis revealed 21 nonsynonymous nucle...
The microbiome associated with equine periodontitis and oral health.
Veterinary research    April 14, 2016   Volume 47 49 doi: 10.1186/s13567-016-0333-1
Kennedy R, Lappin DF, Dixon PM, Buijs MJ, Zaura E, Crielaard W, O'Donnell L, Bennett D, Brandt BW, Riggio MP.Equine periodontal disease is a common and painful condition and its severe form, periodontitis, can lead to tooth loss. Its aetiopathogenesis remains poorly understood despite recent increased awareness of this disorder amongst the veterinary profession. Bacteria have been found to be causative agents of the disease in other species, but current understanding of their role in equine periodontitis is extremely limited. The aim of this study was to use high-throughput sequencing to identify the microbiome associated with equine periodontitis and oral health. Subgingival plaque samples from 24 h...
Screening of whole genome sequences identified high-impact variants for stallion fertility.
BMC genomics    April 14, 2016   Volume 17 288 doi: 10.1186/s12864-016-2608-3
Schrimpf R, Gottschalk M, Metzger J, Martinsson G, Sieme H, Distl O.Stallion fertility is an economically important trait due to the increase of artificial insemination in horses. The availability of whole genome sequence data facilitates identification of rare high-impact variants contributing to stallion fertility. The aim of our study was to genotype rare high-impact variants retrieved from next-generation sequencing (NGS)-data of 11 horses in order to unravel harmful genetic variants in large samples of stallions. Methods: Gene ontology (GO) terms and search results from public databases were used to obtain a comprehensive list of human und mice genes pred...
Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64,XY (SRY+) Disorder of Sex Development. Bolzon C, Joonè CJ, Schulman ML, Harper CK, Villagómez DA, King WA, Révay T.Disorders of sex development (DSD) have long been documented in domestic animal species including horses. However, there is only a single report of an androgen receptor (AR) mutation causative of such a DSD syndrome in a horse pedigree. Here, we present a new familial AR mutation in horses. A missense mutation (c.2042G>C) at AR exon 4 explains the segregation of the DSD in a Thoroughbred horse pedigree. The mutation, expected to affect the ligand-binding domain of the AR protein, led to complete androgen insensitivity of 64,XY SRY+, testicular DSD individuals. Additionally, the design of a ...
The origin of Chinese domestic horses revealed with novel mtDNA variants.
Animal science journal = Nihon chikusan Gakkaiho    April 13, 2016   Volume 88, Issue 1 19-26 doi: 10.1111/asj.12583
Yang Y, Zhu Q, Liu S, Zhao C, Wu C.The origin of domestic horses in China was a controversial issue and several hypotheses including autochthonous domestication, introduction from other areas, and multiple-origins from both introduction and local wild horse introgression have been proposed, but none of them have been fully supported by DNA data. In the present study, mitochondrial DNA (mtDNA) sequences of 714 Chinese indigenous horses were analyzed. The results showed that Chinese domestic horses harbor some novel mtDNA haplogroups and suggested that local domestication events may have occurred, but they are not the dominant ha...
Plasmid Profiles of Virulent Rhodococcus equi Strains Isolated from Infected Foals in Poland.
PloS one    April 13, 2016   Volume 11, Issue 4 e0152887 doi: 10.1371/journal.pone.0152887
Kalinowski M, Grądzki Z, Jarosz Ł, Kato K, Hieda Y, Kakuda T, Takai S.Rhodococcus equi is an important bacterial pathogen in foals up to 6 months old, widespread in horse farms all over the world. It was found that only virulent R. equi strains expressing 15-17 kDa virulence-associated protein (VapA) and having large virulence plasmid of 85-90 kb containing vapA gene are pathogenic for horses. To date, 12 plasmid types have been reported in VapA positive strains from horses. There are no data concerning plasmid types of Polish field R. equi strains isolated from horses and horse farm environment. The aim of the study is to determine plasmid profiles of virulent ...
Identification of genes with nonsynonymous SNP in Jeju horse by whole-genome resequencing reveals a functional role for immune response.
Journal of animal science    April 12, 2016   Volume 94, Issue 3 895-901 doi: 10.2527/jas.2014-8488
Lee JH, Song KD, Kim JM, Leem HK, Park KD.Jeju horse (Natural Monument number 347) is a breed of horse that has experienced long-term isolation and domestication in Jeju Island, South Korea. We evaluated genetic features of this breed, including SNP, by whole-genome resequencing using an Illumina HiSeq 2000. A total of 5,986,852 SNP were identified in 4 Jeju horses and were divided into homozygous and heterozygous SNP (2,357,099 and 3,629,753 SNP, respectively). It revealed that 63.8% of these SNP resided in intergenic regions. Immune response genes with nonsynonymous SNP were overrepresented in Jeju horses as evidenced by Gene Ontolo...
Using an Inbred Horse Breed in a High Density Genome-Wide Scan for Genetic Risk Factors of Insect Bite Hypersensitivity (IBH).
PloS one    April 12, 2016   Volume 11, Issue 4 e0152966 doi: 10.1371/journal.pone.0152966
Velie BD, Shrestha M, Franҫois L, Schurink A, Tesfayonas YG, Stinckens A, Blott S, Ducro BJ, Mikko S, Thomas R, Swinburne JE, Sundqvist M....While susceptibility to hypersensitive reactions is a common problem amongst humans and animals alike, the population structure of certain animal species and breeds provides a more advantageous route to better understanding the biology underpinning these conditions. The current study uses Exmoor ponies, a highly inbred breed of horse known to frequently suffer from insect bite hypersensitivity, to identify genomic regions associated with a type I and type IV hypersensitive reaction. A total of 110 cases and 170 controls were genotyped on the 670K Axiom Equine Genotyping Array. Quality control ...
Development of a new fertility prediction model for stallion semen, including flow cytometry.
Theriogenology    April 11, 2016   Volume 86, Issue 4 1111-1131 doi: 10.1016/j.theriogenology.2016.04.001
Barrier Battut I, Kempfer A, Becker J, Lebailly L, Camugli S, Chevrier L.Several laboratories routinely use flow cytometry to evaluate stallion semen quality. However, objective and practical tools for the on-field interpretation of data concerning fertilizing potential are scarce. A panel of nine tests, evaluating a large number of compartments or functions of the spermatozoa: motility, morphology, viability, mitochondrial activity, oxidation level, acrosome integrity, DNA integrity, "organization" of the plasma membrane, and hypoosmotic resistance, was applied to a population of 43 stallions, 33 of which showing widely differing fertilities (19%-84% pregnancy rat...
An Overview of Ten Italian Horse Breeds through Mitochondrial DNA.
PloS one    April 7, 2016   Volume 11, Issue 4 e0153004 doi: 10.1371/journal.pone.0153004
The climatic and cultural diversity of the Italian Peninsula triggered, over time, the development of a great variety of horse breeds, whose origin and history are still unclear. To clarify this issue, analyses on phenotypic traits and genealogical data were recently coupled with molecular screening. Methods: To provide a comprehensive overview of the horse genetic variability in Italy, we produced and phylogenetically analyzed 407 mitochondrial DNA (mtDNA) control-region sequences from ten of the most important Italian riding horse and pony breeds: Bardigiano, Esperia, Giara, Lipizzan, Maremm...
Characterization of Genetic Variability of Venezuelan Equine Encephalitis Viruses.
PloS one    April 7, 2016   Volume 11, Issue 4 e0152604 doi: 10.1371/journal.pone.0152604
Gardner SN, McLoughlin K, Be NA, Allen J, Weaver SC, Forrester N, Guerbois M, Jaing C.Venezuelan equine encephalitis virus (VEEV) is a mosquito-borne alphavirus that has caused large outbreaks of severe illness in both horses and humans. New approaches are needed to rapidly infer the origin of a newly discovered VEEV strain, estimate its equine amplification and resultant epidemic potential, and predict human virulence phenotype. We performed whole genome single nucleotide polymorphism (SNP) analysis of all available VEE antigenic complex genomes, verified that a SNP-based phylogeny accurately captured the features of a phylogenetic tree based on multiple sequence alignment, an...
Polarisation of equine pregnancy outcome associated with a maternal MHC class I allele: Preliminary evidence.
Veterinary microbiology    April 6, 2016   Volume 188 34-40 doi: 10.1016/j.vetmic.2016.04.004
Kydd JH, Case R, Winton C, MacRae S, Sharp E, Ricketts SL, Rash N, Newton JR.Identification of risk factors which are associated with severe clinical signs can assist in the management of disease outbreaks and indicate future research areas. Pregnancy loss during late gestation in the mare compromises welfare, reduces fecundity and has financial implications for horse owners. This retrospective study focussed on the identification of risk factors associated with pregnancy loss among 46 Thoroughbred mares on a single British stud farm, with some but not all losses involving equid herpesvirus-1 (EHV-1) infection. In a sub-group of 30 mares, association between pregnancy ...
Phaeohyphomycosis due to Pyrenophora phaeocomes and Drechslera nobleae in an Appaloosa mare.
The Canadian veterinary journal = La revue veterinaire canadienne    April 5, 2016   Volume 57, Issue 4 431-433 
Jennings JE.A 21-year-old Appaloosa mare was presented with a pigmented cutaneous mass at the base of the right side of the neck. The diagnosis of phaeohyphomycosis due to pigmented fungi, known as Pyrenophora phaeocomes and Drechslera nobleae, was made based on a histopathology report followed by polymerase chain reaction (PCR) and 18S rRNA gene sequencing. The mass was surgically excised with clean margins, which is usually curative. Une jument Appaloosa âgée de 21 ans a été présentée avec une masse cutanée pigmentée à la base du côté droit du cou. Le diagnostic de phæohyphomycose causée p...
A methicillin-resistant Staphylococcus aureus (MRSA) Sequence Type 8, spa type t11469 causing infection and colonizing horses in Italy.
Pathogens and disease    April 5, 2016   Volume 74, Issue 4 ftw025 doi: 10.1093/femspd/ftw025
Carfora V, Caprioli A, Grossi I, Pepe M, Alba P, Lorenzetti S, Amoruso R, Sorbara L, Franco A, Battisti A.A Methicillin-resistantStaphylococcus aureus(MRSA) was isolated in Italy from a pathological sample of a mare presenting chronic purulent sinusitis and that had undergone frontal-sinus surgery three months before. Humans, horses, dogs and environmental samples were subsequently collected at the mare's stable and at the Veterinary Hospital, where the mare was operated/hospitalized, and screened for the presence of MRSA that was detected from other horses and from the environment at both sites. All the MRSA isolates belonged to clonal complex (CC)8, ST8-t11469-SCCmec-IVa, and showed similar phen...
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