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Topic:Genotyping

Genotyping in horses involves analyzing the genetic makeup of individual horses to identify specific genetic markers. This process aids in understanding genetic variations that may influence traits such as coat color, disease susceptibility, and performance capabilities. Genotyping can be used in breeding programs to select for desirable traits and manage genetic diversity within populations. Common methods for genotyping include single nucleotide polymorphism (SNP) analysis and microsatellite markers. This page compiles peer-reviewed research studies and scholarly articles that explore the methodologies, applications, and implications of genotyping in equine genetics and breeding.
Molecular characterization of Burkholderia mallei strains isolated from horses in Brazil (2014-2017).
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases    February 17, 2022   Volume 99 105250 doi: 10.1016/j.meegid.2022.105250
Falcão MVD, Laroucau K, Vorimore F, Deshayes T, Santana VLA, Silva KPC, do Nascimento SA, de Castro RS, Araújo FR, Mota RA.Glanders is an infectious zoonosis caused by Burkholderia (B.) mallei that mainly affects equids. The objective of this work was to provide additional knowledge on the diversity of the strains circulating in Brazil. Six Burkholderia mallei isolates obtained during necropsies of glanderous horses between 2014 and 2017 in two different states (Pernambuco and Alagoas) were analyzed by polymerase chain reaction-high-resolution melting (PCR-HRM). While four strains (9902 RSC, BM_campo 1, BM_campo 3 and UFAL2) clustered in the L3B2 branch, which already includes the Brazilian 16-2438_BM#8 strain, tw...
Molecular and serological surveillance of Getah virus in the Xinjiang Uygur Autonomous Region, China, 2017-2020.
Virologica Sinica    February 14, 2022   Volume 37, Issue 2 229-237 doi: 10.1016/j.virs.2022.02.004
Shi N, Qiu X, Cao X, Mai Z, Zhu X, Li N, Zhang H, Zhang J, Li Z, Shaya N, Lu H, Jin N.The Getah virus (GETV), a mosquito-borne RNA virus, is widely distributed in Oceania and Asia. GETV is not the only pathogenic to horses, pigs, cattle, foxes and boars, but it can also cause fever in humans. Since its first reported case in Chinese mainland in 2017, the number of GETV-affected provinces has increased to seventeen till now. Therefore, we performed an epidemiologic investigation of GETV in the Xinjiang region, located in northwestern China, during the period of 2017-2020. ELISA was used to analyze 3299 serum samples collected from thoroughbred horse, local horse, sheep, goat, ca...
Selection signatures for heat tolerance in Brazilian horse breeds.
Molecular genetics and genomics : MGG    February 12, 2022   Volume 297, Issue 2 449-462 doi: 10.1007/s00438-022-01862-w
de Faria DA, do Prado Paim T, Dos Santos CA, Paiva SR, Nogueira MB, McManus C.Since domestication, horse breeds have adapted to their environments and differentiated from one another. This paper uses two methods to detect selection signatures in 23 horse breeds, eight of which are Brazilian (610 animals), both cold-blooded and warm-blooded, from temperate and tropical regions. These animals were genotyped using the GGP Equine BeadChip and we analysed the data by Principal Component Analysis (PCA). The samples were separated into groups based on their geographical area of origin and PCA results studied. The genomic regions under selection were detected by hapFLK and PCAd...
Development of a duplex real-time PCR assay for simultaneous detection and differentiation of Theileria equi and Babesia caballi.
Transboundary and emerging diseases    February 8, 2022   Volume 69, Issue 5 e1338-e1349 doi: 10.1111/tbed.14464
Chen K, Hu Z, Yang G, Guo W, Qi T, Liu D, Wang Y, Du C, Wang X.Equine Piroplasmosis (EP) is a tick-borne disease caused by three apicomplexan protozoan parasites, Theileria equi (T. equi), Babesia caballi (B. caballi) and T. haneyi, which can cause similar clinical symptoms. There are five known 18S rRNA genotypes of T. equi group (including T. haneyi) and three of B. caballi. Real-time PCR methods for detecting EP based on 18S rRNA analysis have been developed, but these methods cannot detect all genotypes of EP in China, especially genotype A of T. equi. In this study, a duplex real-time PCR detection method was developed for the simultaneous detection ...
Genome-Wide Association Analyses of Osteochondrosis in Belgian Warmbloods Reveal Candidate Genes Associated With Chondrocyte Development.
Journal of equine veterinary science    January 21, 2022   Volume 111 103870 doi: 10.1016/j.jevs.2022.103870
Drabbe A, Janssens S, Blott S, Ducro BJ, Fontanel M, Francois L, Schurink A, Stinckens A, Lindgren G, Van Mol B, Pille F, Buys N, Velie BD.Osteochondrosis (OC) is an important skeletal disease causing profound welfare concerns in horses. Although numerous studies have explored the genetics underlying OC in various breeds, the Belgian Warmblood (BW) remains unstudied despite having a concerning prevalence of 32.0%. As a result, this study aimed to conduct genome-wide association (GWA) analyses to identify candidate variants associated with OC in BWs. To achieve this, blood samples and radiographs were collected from 407 Belgian Warmbloods registered to one of two BW studbooks (Belgisch Warmbloedpaard and Zangersheide), and genotyp...
Genetic and genomic characterization followed by single-step genomic evaluation of withers height in German Warmblood horses.
Journal of applied genetics    January 14, 2022   Volume 63, Issue 2 369-378 doi: 10.1007/s13353-021-00681-w
Vosgerau S, Krattenmacher N, Falker-Gieske C, Seidel A, Tetens J, Stock KF, Nolte W, Wobbe M, Blaj I, Reents R, Kühn C, von Depka Prondzinski M....Reliability of genomic predictions is influenced by the size and genetic composition of the reference population. For German Warmblood horses, compilation of a reference population has been enabled through the cooperation of five German breeding associations. In this study, preliminary data from this joint reference population were used to genetically and genomically characterize withers height and to apply single-step methodology for estimating genomic breeding values for withers height. Using data on 2113 mares and their genomic information considering about 62,000 single nucleotide polymorp...
Catalog of the horse-flies (Diptera: Tabanidae) of Chile.
Zootaxa    January 13, 2022   Volume 5091, Issue 2 201-257 doi: 10.11646/zootaxa.5091.2.1
Gonzlez CR, Elgueta M, Krolow TK, Henriques AL.A catalog of the Tabanidae from Chile is provided. All valid names and synonyms for the 116 species and 25 genera known for the country including information about name, author, year of publication, page number, type species, type locality and references are listed. The species Dasybasis albohirta (Walker) is cited for the first time for Chile. The type locality of Dasybasis nigrifrons (Philippi) is corrected to Chile (Todos Los Santos Lake). The dates of the description of Tabanus nigrifrons Philippi (now Dasybasis), and Pangonia australis Philippi (now Pseudoscione) are corrected from their ...
Genetic diversity and selection in Puerto Rican horses.
Scientific reports    January 11, 2022   Volume 12, Issue 1 515 doi: 10.1038/s41598-021-04537-5
Wolfsberger WW, Ayala NM, Castro-Marquez SO, Irizarry-Negron VM, Potapchuk A, Shchubelka K, Potish L, Majeske AJ, Oliver LF, Lameiro AD....Since the first Spanish settlers brought horses to America centuries ago, several local varieties and breeds have been established in the New World. These were generally a consequence of the admixture of the different breeds arriving from Europe. In some instances, local horses have been selectively bred for specific traits, such as appearance, endurance, strength, and gait. We looked at the genetics of two breeds, the Puerto Rican Non-Purebred (PRNPB) (also known as the "Criollo") horses and the Puerto Rican Paso Fino (PRPF), from the Caribbean Island of Puerto Rico. While it is reasonable ...
Genetic Variability Trend of Lusitano Horse Breed Reared in Italy.
Animals : an open access journal from MDPI    January 1, 2022   Volume 12, Issue 1 doi: 10.3390/ani12010098
Cozzi MC, Valiati P, Longeri M, Ferreira C, Abreu Ferreira S.The Lusitano Horse (LH) originates from Portugal, but is reared worldwide. Since 1994, the University of Milan has routinely tested the LHs bred in Italy for parentage control. This study aims to assess the genetic variability of the LH reared in Italy using 16 microsatellites markers. Moreover, the genetic variability changes over the years in the total population (n.384) and in unrelated horses (n.47) were evaluated. Horses were grouped according to their date of birth (1975-1990, 1991-2000, 2001-2010, 2010-2019). Standard genetic diversity parameters, including observed (Ho) and expected (H...
The detection and phylogenetic analysis of equine herpesviruses 1, 4 and 5 identified in nasal swab samples of asymptomatic horses from Serbia and Bosnia and Herzegovina.
Veterinaria italiana    December 31, 2021   Volume 57, Issue 4 265-274 doi: 10.12834/VetIt.1767.9329.3
Radalj A, Milic N, Stevanovic O, Nisavic J.Nasal swabs originating from 112 apparently clinically healthy and unvaccinated horses of different age, breed and from diverse rearing conditions from Serbia and Bosnia and Herzegovina were examined for the presence of equine herpesviruses 1, 4 and 5 using multiplex nested PCR (Mn‑PCR) and virus isolation. The detected viruses were subsequently characterised by gB gene nucleotide sequencing and their phylogenetic analysis was performed. The infections with EHV‑1, EHV‑4, and EHV‑5 in the examined horse populations are apparently chronic, subclinical and persistent, whilst the shedding ...
Enterocytozoon bieneusi Genotypes and Infections in the Horses in Korea.
The Korean journal of parasitology    December 22, 2021   Volume 59, Issue 6 639-643 doi: 10.3347/kjp.2021.59.6.639
Lee H, Lee SH, Lee YR, Kim HY, Moon BY, Han JE, Rhee MH, Kwon OD, Kwak D.Enterocytozoon bieneusi is a microsporidian pathogen. Recently, the equestrian population is increasing in Korea. The horse-related zoonotic pathogens, including E. bieneusi, are concerns of public health. A total of 1,200 horse fecal samples were collected from riding centers and breeding farms in Jeju Island and inland areas. Of the fecal samples 15 (1.3%) were PCR positive for E. bieneusi. Interestingly, all positive samples came from Jeju Island. Diarrhea and infection in foals were related. Two genotypes (horse1, horse2) were identified as possible zoonotic groups requiring continuous mon...
Monitoring for the genetic structure of Mezen breed of horses in terms of DNA microsatellites.
Vavilovskii zhurnal genetiki i selektsii    December 14, 2021   Volume 25, Issue 2 202-207 doi: 10.18699/VJ21.024
Vdovina NV, Yuryeva IB.Mezenskaya horse (Mezenka) is Russia's aboriginal breed. It is a domestic selection in the northern territories of Arkhangelsk region. The breed is perfectly adapted to the conditions of the Far North, and has a number of valuable economic and biological qualities. At present, it has a limited gene pool and is bred only in the Mezensky district, where one gene pool-breeding farm is operating and so is a number of basic farms, where selection and breeding activities take place with the breed. Due to a small population of Mezen horses, the challenge of preserving its intra-breed diversity is ver...
Identification of W13 in the American Miniature Horse and Shetland Pony Populations.
Genes    December 14, 2021   Volume 12, Issue 12 1985 doi: 10.3390/genes12121985
Esdaile E, Kallenberg A, Avila F, Bellone RR.Coat color is a trait of economic significance in horses. Variants in seven genes have been documented to cause white patterning in horses. Of the 34 variants that have been identified in KIT proto-oncogene, receptor tyrosine kinase (), 27 have only been reported in a single individual or family and thus not all are routinely offered for genetic testing. Therefore, to enable proper use of marker-assisted selection, determining breed specificity for these alleles is warranted. Screening 19 unregistered all-white Shetland ponies for 16 white patterning markers identified 14 individuals whose phe...
Analysis of Genetic Diversity in the American Standardbred Horse Utilizing Short Tandem Repeats and Single Nucleotide Polymorphisms.
The Journal of heredity    December 12, 2021   Volume 113, Issue 3 238-247 doi: 10.1093/jhered/esab070
Esdaile E, Avila F, Bellone RR.American Standardbreds were developed as a harness racing horse breed. The United States Trotting Association closed the studbook in 1973 and implemented a book size cap in 2009. This study aimed to investigate genetic diversity in the American Standardbred after the studbook cap was introduced using short tandem repeats (STRs) and single-nucleotide polymorphisms (SNPs). Sixteen STRs from horses foaled from 2010 to 2015 and their sires and dams (n = 50 621) were utilized to examine allelic richness (Ar), expected heterozygosity (HE), observed heterozygosity (HO), unbiased heterozygosity (HU), ...
Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation, MYH1E321G.
Cells    December 6, 2021   Volume 10, Issue 12 3428 doi: 10.3390/cells10123428
Ochala J, Finno CJ, Valberg SJ.Myosinopathies are defined as a group of muscle disorders characterized by mutations in genes encoding myosin heavy chains. Their exact molecular and cellular mechanisms remain unclear. In the present study, we have focused our attention on a -related E321G amino acid substitution within the head region of the type IIx skeletal myosin heavy chain, associated with clinical signs of atrophy, inflammation and/or profound rhabdomyolysis, known as equine myosin heavy chain myopathy. We performed Mant-ATP chase experiments together with force measurements on isolated IIx myofibres from control horse...
Genetic Variation and the Distribution of Variant Types in the Horse.
Frontiers in genetics    December 2, 2021   Volume 12 758366 doi: 10.3389/fgene.2021.758366
Durward-Akhurst SA, Schaefer RJ, Grantham B, Carey WK, Mickelson JR, McCue ME.Genetic variation is a key contributor to health and disease. Understanding the link between an individual's genotype and the corresponding phenotype is a major goal of medical genetics. Whole genome sequencing (WGS) within and across populations enables highly efficient variant discovery and elucidation of the molecular nature of virtually all genetic variation. Here, we report the largest catalog of genetic variation for the horse, a species of importance as a model for human athletic and performance related traits, using WGS of 534 horses. We show the extent of agreement between two commonl...
First molecular survey of animal trypanosomes in Paraguayan horses.
Veterinary parasitology, regional studies and reports    November 19, 2021   Volume 27 100664 doi: 10.1016/j.vprsr.2021.100664
Suganuma K, Acosta TJ, Valinotti MFR, Sanchez AR, Mossaad E, Elata A, Inoue N.Despite the epidemic situation of animal trypanosomosis caused by Trypanosoma evansi, Trypanosoma equiperdum and Trypanosoma vivax in South American countries, there are no reports for the prevalence of animal trypanosomes in Paraguay. In this study, 408 blood samples were obtained from apparently healthy horses from sixteen departments of Paraguay, for routine medical check-up from August to September 2019, and a polymerase chain reaction (PCR)-based cross-sectional study was carried out to identify trypanosome prevalence. The prevalence of Trypanozoon (T. evansi and T. equiperdum) and T. viv...
Genetics of Thoroughbred Racehorse Performance.
Annual review of animal biosciences    November 15, 2021   Volume 10 131-150 doi: 10.1146/annurev-animal-020420-035235
Bailey E, Petersen JL, Kalbfleisch TS.Thoroughbred horses have been selected for racing performance for more than 400 years. Despite continued selection, race times have not improved significantly during the past 60 years, raising the question of whether genetic variation for racing performance still exists. Studies using phenotypes such as race time, money earned, and handicapping, however, demonstrate that there is extensive variation within these traits and that they are heritable. Even so, these are poor measures of racing success since Thoroughbreds race at different ages and distances and on different types of tracks, and so...
Prevalence of the E321G MYH1 variant in Brazilian Quarter Horses.
Equine veterinary journal    October 28, 2021   Volume 54, Issue 5 952-957 doi: 10.1111/evj.13521
de Albuquerque AL, Zanzarini Delfiol DJ, Andrade DGA, Albertino LG, Sonne L, Borges AS, Valberg SJ, Finno CJ, Oliveira-Filho JP.In the Quarter Horse (QH), myosin heavy chain myopathy (MYHM), which is characterised by nonexertional rhabdomyolysis or immune-mediated myositis (IMM) with acute muscle atrophy, is strongly associated with the missense E321G MYH1 mutation. Objective: To document the existence of MYHM in the Brazilian QH population, this study includes a case report of two related QH foals with the E321G MYH1 mutation that had clinical signs of MYHM, with histological confirmation of IMM in one of the foals. This prompted an investigation the aim of which was to determine the allele frequency of the E321G MYH1...
Fine-scale genetic diversity of the Brazilian Pantaneiro horse breed adapted to flooded regions.
Tropical animal health and production    October 28, 2021   Volume 53, Issue 6 525 doi: 10.1007/s11250-021-02971-1
Nogueira MB, McManus C, de Faria DA, Santos SAO, Ianella P, Paiva SR.Among the animal species first introduced in Brazil during the country's discovery, horses (Equus caballus) stand out because of their evolutionary history and relationship with humans. Among the Brazilian horse breeds, the Pantaneiro draws attention due to its adaptative traits. Blood samples of 116 Pantaneiro horses were divided into six populations based on their sampling location, aiming to identify the existence of genetic structure and quantify genetic diversity within and between them. Populations were compared to elucidate genetic variability and differentiation better and assess the i...
Multiple Congenital Ocular Anomalies in a silver coat Missouri Fox Trotter stallion.
Tierarztliche Praxis. Ausgabe G, Grosstiere/Nutztiere    October 19, 2021   Volume 49, Issue 5 350-354 doi: 10.1055/a-1581-4810
Herb VM, Zehetner V, Blohm KO.This is the first description of Multiple Congenital Ocular Anomalies (MCOA) in a silver coat Missouri Fox Trotter determined to be heterozygous for the Silver PMEL17 missense mutation associated with MCOA and a silver coat in other breeds. The stallion was treated for meningoencephalitis and bilateral uveitis of unknown origin. A complete ophthalmic examination and ocular ultrasonography were performed. As an incidental finding, the patient exhibited bilateral cystic lesions restricted to the temporal anterior uvea consistent with the Cyst phenotype and was genotyped heterozygous for the Silv...
Warmblood fragile foal syndrome causative single nucleotide polymorphism frequency in horses in Ireland.
Irish veterinary journal    October 18, 2021   Volume 74, Issue 1 27 doi: 10.1186/s13620-021-00206-1
Rowe Á, Flanagan S, Barry G, Katz LM, Lane EA, Duggan V.Warmblood Fragile Foal Syndrome (WFFS) is an autosomal recessive disorder caused by a mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene. Homozygosity for the mutation results in defective collagen synthesis which clinically manifests as the birth of non viable or still born foals with abnormally fragile skin. While the mutation has been identified in non Warmblood breeds including the Thoroughbred, to date all homozygous clinically affected cases reported in the scientific literature are Warmblood foals. The objective of this study was to investigate the carrier f...
Genome-wide scans for signatures of selection in Mangalarga Marchador horses using high-throughput SNP genotyping.
BMC genomics    October 14, 2021   Volume 22, Issue 1 737 doi: 10.1186/s12864-021-08053-8
Santos WB, Schettini GP, Maiorano AM, Bussiman FO, Balieiro JCC, Ferraz GC, Pereira GL, Baldassini WA, Neto ORM, Oliveira HN, Curi RA.The detection of signatures of selection in genomic regions provides insights into the evolutionary process, enabling discoveries regarding complex phenotypic traits. In this research, we focused on identifying genomic regions affected by different selection pressures, mainly highlighting the recent positive selection, as well as understanding the candidate genes and functional pathways associated with the signatures of selection in the Mangalarga Marchador genome. Besides, we seek to direct the discussion about genes and traits of importance in this breed, especially traits related to the typ...
Genomic Regions Associated with the Position and Number of Hair Whorls in Horses.
Animals : an open access journal from MDPI    October 10, 2021   Volume 11, Issue 10 2925 doi: 10.3390/ani11102925
Lima DFPA, da Cruz VAR, Pereira GL, Curi RA, Costa RB, de Camargo GMF.The position and number of hair whorls have been associated with the behavior, temperament, and laterality of horses. The easy observation of whorls assists in the prediction of reactivity, and thus permits the development of better measures of handling, training, mounting, and riding horses. However, little is known about the genetics involved in the formation of hair whorls. Therefore, the aim of this study was to perform a genome-wide association analysis to identify chromosome regions and candidate genes associated with hair whorl traits. Data from 342 Quarter Horses genotyped for approxim...
Zoonotic giardiasis: an update.
Parasitology research    October 8, 2021   Volume 120, Issue 12 4199-4218 doi: 10.1007/s00436-021-07325-2
Cai W, Ryan U, Xiao L, Feng Y.Giardia duodenalis is a common intestinal parasite in various hosts, with the disease giardiasis being a zoonosis. The use of molecular typing tools has improved our understanding of the distribution and zoonotic potential of G. duodenalis genotypes in different animals. The present review summarizes recent data on the distribution of G. duodenalis genotypes in humans and animals in different areas. The dominance of G. duodenalis assemblages A and B in humans and common occurrence of host-adapted assemblages in most domesticated animals suggests that zoonotic giardiasis is probably less common...
Thoroughbred stallion fertility is significantly associated with FKBP6 genotype but not with inbreeding or the contribution of a leading sire.
Animal genetics    October 5, 2021   Volume 52, Issue 6 813-823 doi: 10.1111/age.13142
Castaneda C, Juras R, Kjöllerström J, Hernandez Aviles C, Teague SR, Love CC, Cothran EG, Varner DD, Raudsepp T.This is a follow-up study to validate the previously detected association of the FKBP6 gene with stallion subfertility. Using a select cohort of 150 Thoroughbred stallions with detailed breeding records, we confirm significant association (P < 0.0001) between low per-cycle pregnancy rates (≤50%) and a combined A/A-A/A genotype of SNPs chr13:11 353 372G>A and chr13:11 353 436A>C in FKBP6 exon 5. We also show that stallion subfertility and the combined genotype A/A-A/A are not associated with the level of genetic diversity based on 12 autosomal microsatellite markers, or with pedig...
[Variability of the D-Loop Sequence of Mitochondrial DNA in Transbaikal Horses].
Vavilovskii zhurnal genetiki i selektsii    October 2, 2021   Volume 25, Issue 5 486-491 doi: 10.18699/VJ21.055
Khrabrova LA, Blohina NV, Bazaron BZ, Khamiruev TN.The Zabaikalskaya horse is an indigenous breed of horses from Siberia with diverse use. It is characterized by endurance and good adaptability to year-round herd maintenance in the harsh conditions of the Baikal steppes. To determine the genetic characteristics of the maternal lineage of the Zabaikalskaya horse breed based on mitochondrial DNA polymorphisms, we collected hair samples from 31 horses belonging to breeding farms in the Trans-Baikal Territory. Analysis of the 530 bp sequence of the mtDNA D-loop was performed using the maximum composite likelihood (MCL) model in combination with bo...
A Novel QTL and a Candidate Gene Are Associated with the Progressive Motility of Franches-Montagnes Stallion Spermatozoa after Thaw.
Genes    September 25, 2021   Volume 12, Issue 10 1501 doi: 10.3390/genes12101501
Gmel AI, Burger D, Neuditschko M.The use of frozen-thawed semen is an important reproduction tool to preserve the biodiversity of small, native horse breeds such as the Franches-Montagnes (FM). However, not all stallions produce cryotolerant semen with a progressive motility after thaw ≥ 35%. To improve our understanding of the genetic background of male fertility traits in both fresh and frozen-thawed semen, we performed genome-wide association studies (GWAS) on gel-free volume, sperm cell concentration, total sperm count, and progressive motility in fresh and frozen-thawed semen from 109 FM stallions using 335,494 genome-...
Dataset of single nucleotide polymorphisms and comprehensive proteomic analysis of Streptococcus equi subsp. equi ATCC 39506.
Data in brief    September 23, 2021   Volume 38 107402 doi: 10.1016/j.dib.2021.107402
Lee H, Yun SH, Hyon JY, Lee SY, Yi YS, Choi CW, Jun S, Park EC, Kim SI. subspecies () is an opportunistic pathogen and a major causative agent of equine strangles, a contagious respiratory infection in horses and other equines. In this study, we provide the dataset associated with our research publication "-derived extracellular vesicles as a vaccine candidate against infections" [1]. We describe the genomic differences between 4047 and ATCC 39506 and outline the comprehensive proteome information of various fractions, including the whole cell lysate, membrane proteome, secretory proteome, and extracellular vesicle proteome. In addition, we included a dataset...
The First Report of Genetic Polymorphisms of the Equine SPRN Gene in Outbred Horses, Jeju and Halla Horses.
Animals : an open access journal from MDPI    September 1, 2021   Volume 11, Issue 9 2574 doi: 10.3390/ani11092574
Won SY, Kim YC, Do K, Jeong BH.Prion disease is a fatal infectious disease caused by the accumulation of pathogenic prion protein (PrP) in several mammals. However, to date, prion disease has not been reported in horses. The Sho protein encoded by the shadow of the prion protein gene (SPRN) plays an essential role in the pathomechanism of prion diseases. To date, the only genetic study of the equine SPRN gene has been reported in the inbred horse, Thoroughbred horse. We first discovered four SPRN single nucleotide polymorphisms (SNPs) in 141 Jeju and 88 Halla horses by direct DNA sequencing. In addition, we found that the g...
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