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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.
The utility of low-density genotyping for imputation in the Thoroughbred horse.
Genetics, selection, evolution : GSE    February 4, 2014   Volume 46, Issue 1 9 doi: 10.1186/1297-9686-46-9
Corbin LJ, Kranis A, Blott SC, Swinburne JE, Vaudin M, Bishop SC, Woolliams JA.Despite the dramatic reduction in the cost of high-density genotyping that has occurred over the last decade, it remains one of the limiting factors for obtaining the large datasets required for genomic studies of disease in the horse. In this study, we investigated the potential for low-density genotyping and subsequent imputation to address this problem. Results: Using the haplotype phasing and imputation program, BEAGLE, it is possible to impute genotypes from low- to high-density (50K) in the Thoroughbred horse with reasonable to high accuracy. Analysis of the sources of variation in imput...
Genome-wide detection of copy number variations among diverse horse breeds by array CGH.
PloS one    January 30, 2014   Volume 9, Issue 1 e86860 doi: 10.1371/journal.pone.0086860
Wang W, Wang S, Hou C, Xing Y, Cao J, Wu K, Liu C, Zhang D, Zhang L, Zhang Y, Zhou H.Recent studies have found that copy number variations (CNVs) are widespread in human and animal genomes. CNVs are a significant source of genetic variation, and have been shown to be associated with phenotypic diversity. However, the effect of CNVs on genetic variation in horses is not well understood. In the present study, CNVs in 6 different breeds of mare horses, Mongolia horse, Abaga horse, Hequ horse and Kazakh horse (all plateau breeds) and Debao pony and Thoroughbred, were determined using aCGH. In total, seven hundred CNVs were identified ranging in size from 6.1 Kb to 0.57 Mb across a...
Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses.
Animal genetics    January 28, 2014   Volume 45, Issue 3 392-399 doi: 10.1111/age.12129
Fritz KL, Kaese HJ, Valberg SJ, Hendrickson JA, Rendahl AK, Bellone RR, Dynes KM, Wagner ML, Lucio MA, Cuomo FM, Brinkmeyer-Langford CL, Skow LC....Appaloosa horses are predisposed to equine recurrent uveitis (ERU), an immune-mediated disease characterized by recurring inflammation of the uveal tract in the eye, which is the leading cause of blindness in horses. Nine genetic markers from the ECA1 region responsible for the spotted coat color of Appaloosa horses, and 13 microsatellites spanning the equine major histocompatibility complex (ELA) on ECA20, were evaluated for association with ERU in a group of 53 Appaloosa ERU cases and 43 healthy Appaloosa controls. Three markers were significantly associated (corrected P-value <0.05): a SNP ...
A chromosomal region on ECA13 is associated with maxillary prognathism in horses.
PloS one    January 21, 2014   Volume 9, Issue 1 e86607 doi: 10.1371/journal.pone.0086607
Signer-Hasler H, Neuditschko M, Koch C, Froidevaux S, Flury C, Burger D, Leeb T, Rieder S.Hereditary variations in head morphology and head malformations are known in many species. The most common variation encountered in horses is maxillary prognathism. Prognathism and brachygnathism are syndromes of the upper and lower jaw, respectively. The resulting malocclusion can negatively affect teeth wear, and is considered a non-desirable trait in breeding programs. We performed a case-control analysis for maxillary prognathism in horses using 96 cases and 763 controls. All horses had been previously genotyped with a commercially available 50 k SNP array. We analyzed the data with a mixe...
Worldwide frequency distribution of the ‘Gait keeper’ mutation in the DMRT3 gene.
Animal genetics    January 21, 2014   Volume 45, Issue 2 274-282 doi: 10.1111/age.12120
Promerová M, Andersson LS, Juras R, Penedo MC, Reissmann M, Tozaki T, Bellone R, Dunner S, Hořín P, Imsland F, Imsland P, Mikko S, Modrý D....For centuries, domestic horses have represented an important means of transport and served as working and companion animals. Although their role in transportation is less important today, many horse breeds are still subject to intense selection based on their pattern of locomotion. A striking example of such a selected trait is the ability of a horse to perform additional gaits other than the common walk, trot and gallop. Those could be four-beat ambling gaits, which are particularly smooth and comfortable for the rider, or pace, used mainly in racing. Gaited horse breeds occur around the glob...
Alarming proportions of methicillin-resistant Staphylococcus aureus (MRSA) in wound samples from companion animals, Germany 2010-2012.
PloS one    January 20, 2014   Volume 9, Issue 1 e85656 doi: 10.1371/journal.pone.0085656
Vincze S, Stamm I, Kopp PA, Hermes J, Adlhoch C, Semmler T, Wieler LH, Lübke-Becker A, Walther B.Staphylococcus (S.) aureus is an important cause of wound infections in companion animals, and infections with methicillin-resistant S. aureus (MRSA) are of particular concern due to limited treatment options and their zoonotic potential. However, comparable epidemiological data on MRSA infections in dogs, cats and horses is scarce, also limiting the knowledge about possible links to MRSA isolates from human populations. To gain more knowledge about the occurrence and genotypic variation of MRSA among wound swabs of companion animal origin in Germany we performed a survey (2010-2012) including...
Genetic polymorphism of Hucul horse population based on 17 microsatellite loci.
Acta biochimica Polonica    January 17, 2014   Volume 60, Issue 4 761-765 
Fornal A, Radko A, Piestrzyńska-Kajtoch A.Short tandem repeat (STR) loci, i.e. microsatellites are a class of genetic markers commonly used for population studies and parentage control. This study determined the usefulness of microsatellite markers recommended by International Society for Animal Genetics (ISAG) for identification and pedigree analysis in horses based on the example of Polish Hucul horse population (Equus caballus). The set of seventeen microsatellites loci was tested (AHT4, AHT5, ASB2, HMS2, HMS3, HMS6, HMS7, HTG10, HTG4, HTG6, HTG7, VHL20, ASB17, ASB23, CA425, HMS1, LEX3) for 216 individuals. All samples were genotyp...
Sequence analysis of the equine ACTN3 gene in Australian horse breeds.
Gene    January 15, 2014   Volume 538, Issue 1 88-93 doi: 10.1016/j.gene.2014.01.014
Thomas KC, Hamilton NA, North KN, Houweling PJ.The sarcomeric α-actinins, encoded by the genes ACTN2 and ACTN3, are major structural components of the Z-line and have high sequence similarity. α-Actinin-2 is present in all skeletal muscle fibres, while α-actinin-3 has developed specialized expression in only type 2 (fast, glycolytic) fibres. A common single nucleotide polymorphism (SNP) in the human ACTN3 gene (R577X) has been found to influence muscle performance in elite athletes and the normal population. For this reason, equine ACTN3 (eACTN3) is considered to be a possible candidate that may influence horse performance. In this stud...
Exploration of known stereotypic behaviour-related candidate genes in equine crib-biting.
Animal : an international journal of animal bioscience    January 6, 2014   Volume 8, Issue 3 347-353 doi: 10.1017/S1751731113002346
Hemmann K, Ahonen S, Raekallio M, Vainio O, Lohi H.Crib-biting in horses is a stereotypic oral behaviour. Genetic susceptibility has been suggested on a causal basis, together with environmental factors such as stress, gastric discomfort and frustration caused by stall restrictions. This study aimed to test the associations of known or suspected stereotypic genes with equine crib-biting, including Ghrelin, Ghrelin receptor, Leptin, Dopamine receptor, μ-opioid receptor, N-cadherin, Serotonin receptor and Semaphorin. We conducted a candidate gene study with a case-control design, including 98 crib-biting and 135 control horses of two breeds, Fi...
Comparing the genetic diversity of ORF30 of Australian isolates of 3 equid alphaherpesviruses.
Veterinary microbiology    December 25, 2013   Volume 169, Issue 1-2 50-57 doi: 10.1016/j.vetmic.2013.12.007
Cuxson JL, Hartley CA, Ficorilli NP, Symes SJ, Devlin JM, Gilkerson JR.A single nucleotide polymorphism (SNP) has been previously associated with EHV-1 neurological disease in several countries around the world. This disease is very uncommon in Australia and little information is available about the presence of this SNP in Australian EHV-1 isolates. The ORF30 sequence of 66 Australian EHV-1 isolates was determined and the genotype was compared to the disease manifestation of the case from which the virus was isolated. Of the 66 isolates, 61 were from cases of abortion and 5 were cases associated with equine herpesvirus myeloencephalopathy (EHM). There was no asso...
Single nucleotide polymorphisms of myostatin gene in Chinese domestic horses.
Gene    December 22, 2013   Volume 538, Issue 1 150-154 doi: 10.1016/j.gene.2013.12.027
Li R, Liu DH, Cao CN, Wang SQ, Dang RH, Lan XY, Chen H, Zhang T, Liu WJ, Lei CZ.The myostatin gene (MSTN) is a genetic determinant of skeletal muscle growth. Single nucleotide polymorphisms (SNP) in MSTN are of importance due to their strong associations with horse racing performances. In this study, we screened the SNPs in MSTN gene in 514 horses from 15 Chinese horse breeds. Six SNPs (g.26T>C, g.156T>C, g.587A>G, g.598C>T, g.1485C>T, g.2115A>G) in MSTN gene were detected by sequencing and genotyped using PCR-RFLP method. The g.587A>G and g.598C>T residing in the 5'UTR region were novel SNPs identified by this study. The g.2115A>G which have pr...
Development of a surveillance scheme for equine influenza in the UK and characterisation of viruses isolated in Europe, Dubai and the USA from 2010-2012.
Veterinary microbiology    December 21, 2013   Volume 169, Issue 3-4 113-127 doi: 10.1016/j.vetmic.2013.11.039
Woodward AL, Rash AS, Blinman D, Bowman S, Chambers TM, Daly JM, Damiani A, Joseph S, Lewis N, McCauley JW, Medcalf L, Mumford J, Newton JR, Tiwari A....Equine influenza viruses are a major cause of respiratory disease in horses worldwide and undergo antigenic drift. Several outbreaks of equine influenza occurred worldwide during 2010-2012, including in vaccinated animals, highlighting the importance of surveillance and virus characterisation. Virus isolates were characterised from more than 20 outbreaks over a 3-year period, including strains from the UK, Dubai, Germany and the USA. The haemagglutinin-1 (HA1) sequence of all isolates was determined and compared with OIE-recommended vaccine strains. Viruses from Florida clades 1 and 2 showed c...
Identification and characterization of methicillin-resistant Staphylococcus aureus (MRSA) from Austrian companion animals and horses.
Veterinary microbiology    November 28, 2013   Volume 168, Issue 2-4 381-387 doi: 10.1016/j.vetmic.2013.11.022
Loncaric I, Künzel F, Licka T, Simhofer H, Spergser J, Rosengarten R.The aim of this study was to investigate the antimicrobial resistance, resistance gene patterns and genetic relatedness of a collection of Austrian methicillin-resistant Staphylococcus aureus (MRSA) isolates from companion animals and horses. A total of 89 non-repetitive MRSA isolates collected during routine veterinary microbiological examinations from April 2004 to the end of 2012, and one isolate from 2013 were used for this study. The presence of mecA and other resistance genes was confirmed by PCR. Isolates were genotyped by spa typing, two multiple-locus variable-number tandem repeat ana...
Allele frequency of hereditary equine regional dermal asthenia in American Quarter horses in Brazil determined by quantitative real-time PCR with high resolution melting analysis.
Veterinary journal (London, England : 1997)    November 19, 2013   Volume 199, Issue 2 306-307 doi: 10.1016/j.tvjl.2013.11.008
Badial PR, Oliveira-Filho JP, Winand NJ, Borges AS.Hereditary equine regional dermal asthenia (HERDA) is a genetic disorder that occurs in the American Quarter horse (AQH) and is caused by a c.115G>A missense mutation in the peptidylprolyl isomerase B (PPIB) gene. Using a quantitative real-time PCR high resolution melting analysis genotyping assay for the PPIB mutation, the estimated HERDA allele and carrier frequencies in a sample of Brazilian AQHs were 2.9% and 5.8%, respectively.
Evidence of lateral gene transfer among strains of Streptococcus zooepidemicus in weanling horses with respiratory disease.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases    November 19, 2013   Volume 21 157-160 doi: 10.1016/j.meegid.2013.11.006
Velineni S, Breathnach CC, Timoney JF.Streptococcus zooepidemicus (Sz) is a tonsillar commensal of healthy horses but with potential to opportunistically invade the lower respiratory tract. Sz is genetically variable and recombinogenic based on analysis of gene sequences including szp, szm and MLST data. Although a variety of serovars of the protective SzP are commonly harbored in the tonsils of the same horse, lower respiratory infections usually involve a single clone. Nevertheless, isolation of specific clones from epizootics of respiratory disease has been recently reported in horses and dogs in N. America, Europe and Asia. In...
Evidence of positive selection for a glycogen synthase (GYS1) mutation in domestic horse populations.
The Journal of heredity    November 8, 2013   Volume 105, Issue 2 163-172 doi: 10.1093/jhered/est075
McCoy AM, Schaefer R, Petersen JL, Morrell PL, Slamka MA, Mickelson JR, Valberg SJ, McCue ME.A dominantly inherited gain-of-function mutation in the glycogen synthase (GYS1) gene, resulting in excess skeletal muscle glycogen, has been identified in more than 30 horse breeds. This mutation is associated with the disease Equine Polysaccharide Storage Myopathy Type 1, yet persists at high frequency in some breeds. Under historical conditions of daily work and limited feed, excess muscle glycogen may have been advantageous, driving the increase in frequency of this allele. Fine-scale DNA sequencing in 80 horses and genotype assays in 279 horses revealed a paucity of haplotypes carrying th...
Validation of imputation between equine genotyping arrays.
Animal genetics    October 27, 2013   Volume 45, Issue 1 153 doi: 10.1111/age.12093
McCoy AM, McCue ME.No abstract available
The molecular identification of Streptococcus equi subsp. equi strains isolated within New Zealand.
New Zealand veterinary journal    October 24, 2013   Volume 62, Issue 2 63-67 doi: 10.1080/00480169.2013.841536
Patty OA, Cursons RT.To identify Streptococcus equi subsp. equi (S. equi) by PCR analysis and obtain isolates by culture, in order to investigate the strains of S. equi infecting horses within New Zealand. Methods: A diagnostic PCR, based on the amplification of the seeI gene for S. equi, was used on 168 samples submitted from horses with and without clinical signs of strangles. Samples were also processed and cultured on selective media for the isolation of β-haemolytic colonies. In addition, the hypervariable region of the seM gene of S. equi was amplified and then sequenced for strain typing purposes. Results:...
Ancient trade routes shaped the genetic structure of horses in eastern Eurasia.
Molecular ecology    October 9, 2013   Volume 22, Issue 21 5340-5351 doi: 10.1111/mec.12491
Warmuth VM, Campana MG, Eriksson A, Bower M, Barker G, Manica A.Animal exchange networks have been shown to play an important role in determining gene flow among domestic animal populations. The Silk Road is one of the oldest continuous exchange networks in human history, yet its effectiveness in facilitating animal exchange across large geographical distances and topographically challenging landscapes has never been explicitly studied. Horses are known to have been traded along the Silk Roads; however, extensive movement of horses in connection with other human activities may have obscured the genetic signature of the Silk Roads. To investigate the role o...
Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses.
PloS one    September 30, 2013   Volume 8, Issue 9 e75071 doi: 10.1371/journal.pone.0075071
Haase B, Signer-Hasler H, Binns MM, Obexer-Ruff G, Hauswirth R, Bellone RR, Burger D, Rieder S, Wade CM, Leeb T.Coat color and pattern variations in domestic animals are frequently inherited as simple monogenic traits, but a number are known to have a complex genetic basis. While the analysis of complex trait data remains a challenge in all species, we can use the reduced haplotypic diversity in domestic animal populations to gain insight into the genomic interactions underlying complex phenotypes. White face and leg markings are examples of complex traits in horses where little is known of the underlying genetics. In this study, Franches-Montagnes (FM) horses were scored for the occurrence of white fac...
Development of a single multi-locus sequence typing scheme for Taylorella equigenitalis and Taylorella asinigenitalis.
Veterinary microbiology    September 24, 2013   Volume 167, Issue 3-4 609-618 doi: 10.1016/j.vetmic.2013.09.016
Duquesne F, Hébert L, Breuil MF, Matsuda M, Laugier C, Petry S.We describe here the development of a multilocus sequence typing (MLST) scheme for Taylorella equigenitalis, the causative agent of contagious equine metritis (CEM), and Taylorella asinigenitalis, a nonpathogenic bacterium. MLST was performed on a set of 163 strains collected in several countries over 35 years (1977-2012). The MLST data were analyzed using START2, MEGA 5.05 and eBURST, and can be accessed at http://pubmlst.org/taylorella/. Our results revealed a clonal population with 39 sequence types (ST) and no common ST between the two Taylorella species. The eBURST analysis grouped the 27...
Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.
PloS one    September 23, 2013   Volume 8, Issue 9 e75639 doi: 10.1371/journal.pone.0075639
Andersson LS, Wilbe M, Viluma A, Cothran G, Ekesten B, Ewart S, Lindgren G.Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome is a heritable eye disorder mainly affecting silver colored horses. Clinically, the disease manifests in two distinct classes depending on the horse genotype. Horses homozygous for the mutant allele present with a wide range of ocular defects, such as iris stromal hypoplasia, abnormal pectinate ligaments, megaloglobus, iridociliary cysts and cataracts. The phenotype of heterozygous horses is less severe and predominantly includes iridociliary cysts, which occasionally extend into the temporal retina. In order to determine the genetic ...
Molecular characterization of Cryptosporidium spp. from foals in Italy.
Veterinary journal (London, England : 1997)    September 17, 2013   Volume 198, Issue 2 531-533 doi: 10.1016/j.tvjl.2013.09.004
Caffara M, Piva S, Pallaver F, Iacono E, Galuppi R.Fourteen Cryptosporidium isolates from hospitalized foals were genotyped and subtyped using PCR-RFLP analysis of the 18S rDNA. Cryptosporidium parvum and Cryptosporidium horse genotype were detected in 3 and 11 stool specimens, respectively. Sequences of the gp60 gene of Cryptosporidium horse genotype allowed identification of the subtype family VIaA15G4, defining a novel microsatellite pattern within horse subtype VIa. Cryptosporidium horse genotype has only been described occasionally worldwide and this is the first time it has been identified in foals from Italy.
The origin of amniotic polymorphonuclear leucocytes in the mare.
Reproduction in domestic animals = Zuchthygiene    September 16, 2013   Volume 48, Issue 6 e88-e89 doi: 10.1111/rda.12237
Hemberg E, Einarsson S, Jones B, Mikko S.The objective of this study was to investigate the presence and origin of polymorphonuclear leucocytes (PMNLs) in the amniotic fluid of mares giving birth to healthy foals. Material from 25 mares was included. Amniotic fluid was collected during parturition before breakage of the amniotic vesicle. Manual microscopic cytologic evaluation was made on cytospin preparations after staining. PMNLs were found in all amniotic samples examined. The genomic DNA was extracted from 12 of the amniotic fluid samples and was genotyped. The results indicate that the PMNLs originate from the foetus.
Polymorphisms in TNC and COL5A1 genes are associated with risk of superficial digital flexor tendinopathy in National Hunt Thoroughbred racehorses.
Equine veterinary journal    September 16, 2013   Volume 46, Issue 3 289-293 doi: 10.1111/evj.12134
Tully LJ, Murphy AM, Smith RK, Hulin-Curtis SL, Verheyen KL, Price JS.To explore whether genetic susceptibility is a potential risk factor for superficial digital flexor (SDF) tendinopathy in Thoroughbred (TB) racehorses. Objective: To identify informative single nucleotide polymorphisms (SNPs) that capture genetic diversity across a range of candidate genes and to investigate, in a case-control study, their association with SDF tendinopathy in UK National Hunt TB racehorses in training. Methods: Case-control candidate gene association study. Methods: This study used in silico gene assembly and DNA sequencing to screen candidate genes for SNPs. Seven candidate g...
Rapid detection and identification of Theileria equi and Babesia caballi by high-resolution melting (HRM) analysis.
Parasitology research    August 29, 2013   Volume 112, Issue 11 3883-3886 doi: 10.1007/s00436-013-3581-2
Salim B, Bakheit MA, Sugimoto C.The application of high-resolution melting (HRM) analysis in the differentiation between Theileria equi and Babesia caballi was evaluated using control samples from the United States Department of Agriculture and field samples collected from horses in Sudan and China. A region of the 18S rRNA gene, with four known nucleotide differences between the two parasites, was selected for primer design. HRM analysis successfully allowed the detection and differentiation of T. equi and B. caballi without the necessity of performing time-consuming and expensive post-PCR procedures such as sequencing or r...
Global distribution of group A rotavirus strains in horses: a systematic review.
Vaccine    August 28, 2013   Volume 31, Issue 48 5627-5633 doi: 10.1016/j.vaccine.2013.08.045
Papp H, Matthijnssens J, Martella V, Ciarlet M, Bányai K.Group A rotavirus (RVA) is a major cause of diarrhea and diarrhea-related mortality in foals in parts of the world. In addition to careful horse farm management, vaccination is the only known alternative to reduce the RVA associated disease burden on horse farms. The precise evaluation of vaccine effectiveness against circulating strains needs enhanced surveillance of equine RVAs in areas where vaccine is already available or vaccine introduction is anticipated. Therefore, we undertook the overview of relevant information on epidemiology of equine RVA strains through systematic search of publi...
Genomic selection: Status in different species and challenges for breeding.
Reproduction in domestic animals = Zuchthygiene    August 24, 2013   Volume 48 Suppl 1 2-10 doi: 10.1111/rda.12201
Stock KF, Reents R.Technical advances and development in the market for genomic tools have facilitated access to whole-genome data across species. Building-up on the acquired knowledge of the genome sequences, large-scale genotyping has been optimized for broad use, so genotype information can be routinely used to predict genetic merit. Genomic selection (GS) refers to the use of aggregates of estimated marker effects as predictors which allow improved individual differentiation at young age. Realizable benefits of GS are influenced by several factors and vary in quantity and quality between species. General cha...
PCR-based Methodologies Used to Detect and Differentiate the Burkholderia pseudomallei complex: B. pseudomallei, B. mallei, and B. thailandensis.
Current issues in molecular biology    August 22, 2013   Volume 16 23-54 
Lowe W, March JK, Bunnell AJ, O'Neill KL, Robison RA.Methods for the rapid detection and differentiation of the Burkholderia pseudomallei complex comprising B. pseudomallei, B. mallei, and B. thailandensis, have been the topic of recent research due to the high degree of phenotypic and genotypic similarities of these species. B. pseudomallei and B. mallei are recognized by the CDC as tier 1 select agents. The high mortality rates of glanders and melioidosis, their potential use as bioweapons, and their low infectious dose, necessitate the need for rapid and accurate detection methods. Although B. thailandensis is generally avirulent in mammals, ...
A genome-wide association study identifies risk loci to equine recurrent uveitis in German warmblood horses.
PloS one    August 14, 2013   Volume 8, Issue 8 e71619 doi: 10.1371/journal.pone.0071619
Kulbrock M, Lehner S, Metzger J, Ohnesorge B, Distl O.Equine recurrent uveitis (ERU) is a common eye disease affecting up to 3-15% of the horse population. A genome-wide association study (GWAS) using the Illumina equine SNP50 bead chip was performed to identify loci conferring risk to ERU. The sample included a total of 144 German warmblood horses. A GWAS showed a significant single nucleotide polymorphism (SNP) on horse chromosome (ECA) 20 at 49.3 Mb, with IL-17A and IL-17F being the closest genes. This locus explained a fraction of 23% of the phenotypic variance for ERU. A GWAS taking into account the severity of ERU, revealed a SNP on ECA18 n...
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