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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.
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...
Genetic Background of the Polish Primitive Horse (Konik) Coat Color Variation-New Insight into Dun Dilution Phenotypic Effect.
The Journal of heredity    August 26, 2021   Volume 112, Issue 5 436-442 doi: 10.1093/jhered/esab034
Cieslak J, Brooks SA, Wodas L, Mantaj W, Borowska A, Sliwowska JH, Ziarniak K, Mackowski M.Only the blue dun coat color, produced by the action of the dun allele on the background of a black base coat, is officially permitted in the Polish primitive horse (PPH, Konik) breed, yet the population is not visually homogenous and various coat color shades occur. Herein, the molecular background of PPH coat color was studied based on genotyping of known causative variants in equine coat color-related genes (ASIP, MC1R, TBX3, SLC36A1, SLC45A2, PMEL17, and RALY). Additionally, screening for the new polymorphisms was conducted for the ASIP gene coding sequence and the TBX3 1.6-kb insert (asso...
Evaluation of recent changes in genetic variability in Thoroughbred horses based on microsatellite markers parentage panel in Korea.
Animal bioscience    August 25, 2021   Volume 35, Issue 4 527-532 doi: 10.5713/ab.21.0272
Park CS, Lee SY, Cho GJ.In this study, we aimed to investigate the recent changes such as allele frequencies and total probability of exclusion (PE) in Thoroughbred horses in Korea using short tandem repeat (STR) parentage panels between 2006 and 2016. Methods: The genotype was provided for 5,988 horse samples with 15 microsatellite markers (AHT4, AHT5, ASB2, ASB17, ASB23, CA425, HMS1, HMS2, HMS3, HMS6, HMS7, HTG4, HTG10, LEX3 and VHL20). Results: In our study, the observed number of alleles per locus ranged from 3 (HMS1) to 9 (ASB17) in 2006 and 4 (HMS1) to 9 (ASB2) in 2016, with a mean value of 6.28 and 6.40, respe...
Identification of Multiple Blastocystis Subtypes in Domestic Animals From Colombia Using Amplicon-Based Next Generation Sequencing.
Frontiers in veterinary science    August 24, 2021   Volume 8 732129 doi: 10.3389/fvets.2021.732129
Higuera A, Herrera G, Jimenez P, García-Corredor D, Pulido-Medellín M, Bulla-Castañeda DM, Pinilla JC, Moreno-Pérez DA, Maloney JG, Santín M.... is frequently reported in fecal samples from animals and humans worldwide, and a variety of subtypes (STs) have been observed in wild and domestic animals. In Colombia, few studies have focused on the transmission dynamics and epidemiological importance of in animals. In this study, we characterized the frequency and subtypes of in fecal samples of domestic animals including pigs, minipigs, cows, dogs, horses, goats, sheep, and llama from three departments of Colombia. Of the 118 fecal samples included in this study 81.4% ( = 96) were positive for using a PCR that amplifies a fragment of t...
Germ Cell Transplantation in Stallion Testes.
Journal of equine veterinary science    August 21, 2021   Volume 106 103748 doi: 10.1016/j.jevs.2021.103748
Jung H, Yoon M.The production of donor-derived sperm using spermatogonial stem cell transplantation has been studied in various animals including mice, rats, goats, boar, dogs, sheep, and monkeys. However, germ cell transplantation has not been applied in stallions. The objective of this study was to produce donor germ cell-derived sperm using germ cell transplantation in stallions. Donor germ cells were transplanted into the parenchyma of 3 recipient stallions that had been treated with busulfan IV injections of 15 mg/kg body weight. For the preparation of donor single germ cells, tissue (20 g) from each te...
Molecular detection and phylogenetic characterization of Theileria equi in horses (Equus caballus) from a peri-urban area of Argentina.
Ticks and tick-borne diseases    August 13, 2021   Volume 12, Issue 6 101810 doi: 10.1016/j.ttbdis.2021.101810
Sebastian PS, Benitez-Ibalo AP, Flores FS, Debárbora VN, Martinez EI, Thompson CS, Mangold AJ.To investigate the presence of Theileria equi in an endemic area of equine piroplasmosis 42 horses (Equus caballus) from Corrientes City, Argentina were sampled. Eighty-one percent (34 blood samples) of the analyzed horses were tested positive to the presence of piroplasmid 18S rDNA. All these samples could be identified as T. equi by amplifying the specific EMA-1 (merozoite antigen 1) gene of this species. Phylogenetic analysis of an obtained 18S rDNA complete sequence from one strain resulted in the identification of this sample as T. equi sensu stricto (genotype A). This study presents the ...
Very low intraspecific sequence variation in selected nuclear and mitochondrial Parascaris univalens genes. von Samson-Himmelstjerna G, Janssen IJI, Ramünke S, Goday C, Borges FA, Koudela B, Niedźwiedź A, Tomczuk K, Studzińska MB, Kornas S, Krücken J.Equines were over decades considered to be infected by two morphologically virtually indistinguishable ascarid species, Parascaris univalens and Parascaris equorum. Reliable species discrimination is only possible using enzyme isoelectric focussing and karyotyping with P. univalens having one and P. equorum two chromosome pairs. However, presumably the complexity of both methods prevented their routine use in nearly all previous studies about prevalence and drug resistance of Parascaris spp. These have barely been performed on the species level although most studies stated presence of one or t...
500 years of breeding in the Carthusian Strain of Pura Raza Español horse: An evolutional analysis using genealogical and genomic data.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    August 7, 2021   Volume 139, Issue 1 84-99 doi: 10.1111/jbg.12641
Poyato-Bonilla J, Laseca N, Demyda-Peyrás S, Molina A, Valera M.The Carthusian horse is a Pura Raza Español (PRE) strain (CS), bred as a closed population since its creation more than 500 years ago. The aim of this study was to analyse for the first time its population structure and situation of variability combining both genealogical (GEL) and genomic (GEN) data. The GEL data comprised 348,429 pedigree records (56,105 CS horses), while the GEN analysis included the high-density genotypes (670,804 SNPs) of 287 horses. Pedigree completeness demonstrated its accuracy, showing a good correlation of GEL (F) and GEN (F ) inbreeding coefficient in the case of ...
GWAS Identifies a Region Containing the SALL1 Gene in Variation of Pigmentation Intensity Within the Chestnut Coat Color of Horses.
The Journal of heredity    August 4, 2021   Volume 112, Issue 5 443-446 doi: 10.1093/jhered/esab037
Hammons V, Ribeiro L, Munyard K, Sadeghi R, Miller D, Antczak D, Brooks SA.Chestnut coat color in horses is determined by a missense mutation within the MC1R gene. However, the intensity of the chestnut color can vary widely within individuals possessing this genotype. Here, we investigated this variation using standardized photographs of 96 horses. Each horse was ranked lightest to darkest within the cohort for phenotype by 3 blinded observers. A genome-wide association study utilizing the relative shade ranking as the phenotype and using 268 487 single-nucleotide polymorphisms (SNPs) genotyped using the Affymetrix Equine 670k array identified a single significantly...
Development of a 19-plex short tandem repeat typing system for individual identification and parentage testing of horses (Equus caballus).
Animal genetics    July 15, 2021   Volume 52, Issue 5 754-758 doi: 10.1111/age.13119
Shang S, Jiang R, Luo R, Jia S, Irwin DM, Wang Z, Zhang S.Individual identification of horses for pedigree verification and registration is important for the sustainable development of the horse industry. Horse individual identification and parentage tests commonly use the 17 short tandem repeats (STRs) recommended by the International Society for Animal Genetics (ISAG) and the locus LEX33. While many multiplex STR typing systems have been established for the horse, a sex determining marker is usually absent, and none of them can simultaneously detect all 17 ISAG recommended loci and the locus LEX33. Here, we present a 19-plex STR typing system that ...
Whole genome sequencing of methicillin-resistant and methicillin-sensitive Staphylococcus aureus isolated from 4 horses in a veterinary teaching hospital and its ambulatory service. Morice P, Allano M, Provost C, Fairbrother JH, Gagnon CA, Sauvé F.Genomic characterization was conducted on 2 methicillin-resistant Staphylococcus aureus (MRSA) strains isolated from 2 horses hospitalized during an overlapping period of time and 2 methicillin-sensitive S. aureus (MSSA) strains isolated from 2 distinct horses. Phylogenetic proximity was traced and the genotypic and phenotypic characteristics of the antimicrobial resistance of the strains were compared. Whole genome sequencing of MRSA strains for this report was similar but differed from whole genome sequencing of MSSA strains. The MRSA strains were closely related, belonging to sequence type ...
Stock-type equine disciplines Hunter, Reining and Roping are associated with the A allele at the DMRT3 locus for gait phenotypes in the horse.
Animal genetics    July 12, 2021   Volume 52, Issue 5 773-774 doi: 10.1111/age.13110
Patterson Rosa L, Staiger EA, Martin K, Vierra M, Foster G, Lundquist E, Brooks SA, Lafayette C.No abstract available
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