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Topic:Bioinformatics

Bioinformatics in horses involves the application of computational tools and techniques to analyze and interpret biological data related to equine species. This interdisciplinary field integrates biology, computer science, and information technology to study genetic, genomic, and proteomic information in horses. Bioinformatics can be used to investigate genetic variations, understand disease mechanisms, and assist in the development of targeted therapies and breeding programs. Key areas of focus include genome sequencing, gene expression analysis, and the identification of genetic markers associated with specific traits or conditions. This page compiles peer-reviewed research studies and scholarly articles that explore the application and impact of bioinformatics on equine genetics, health, and breeding.
The complete mitochondrial genome and phylogenetic analysis of the Debao pony (Equus caballus).
Molecular biology reports    April 15, 2010   Volume 38, Issue 1 593-599 doi: 10.1007/s11033-010-0145-8
Jiang Q, Wei Y, Huang Y, Jiang H, Guo Y, Lan G, Liao J.The Debao pony (Equus caballus) is the most important local variety of domestic horses, and is strictly protected by the Chinese government. Their average adult withers height is 94.42±3.76 cm for males and 98.35±4.55 cm for females, respectively. In the present study, the complete sequence of the Debao pony mitochondrial genome was determined (GenBank Accession No. EU939445), and was found to be similar to other equine mitochondrial genomes. However, there were 85 nucleotide substitutions in the 13 protein-coding genes; the percentage of substitution was 0.8±0.1. Polymorphisms of mtDNA con...
Ultrasound B-scan image simulation, segmentation, and analysis of the equine tendon.
Medical physics    April 14, 2010   Volume 37, Issue 3 1038-1046 doi: 10.1118/1.3292633
Meghoufel A, Cloutier G, Crevier-Denoix N, de Guise JA.The hypothesis is that an imaging technique based on decompression and segmentation of B-scan images with morphological operators can provide a measurement of the integrity of equine tendons. Methods: Two complementary approaches were used: (i) Simulation of B-scan images to better understand the relationship between image properties and their underlying biological structural contents and (ii) extraction and quantification from B-scan images of tendon structures identified in step (i) to diagnose the status of the superficial digital flexor tendon (SDFT) by using the proposed imaging technique...
Identification of differentially expressed genes associated with osteochondrosis in standardbred horses using RNA arbitrarily primed PCR.
Animal biotechnology    April 10, 2010   Volume 21, Issue 2 135-139 doi: 10.1080/10495391003608316
Austbø L, Røed KH, Dolvik NI, Skretting G.The aim of this study was to investigate genes for differential expression in cartilage of foals predisposed to osteochondrosis (OC). Tissue was sampled from the cranial part of the distal intermediate ridge of the tibia in the tarso-crural joint. Foals were considered predisposed to OC when parents had OC at the distal intermediate ridge of the tibia. RNA was isolated and subjected to arbitrarily primed PCR (RAP-PCR) followed by fingerprinting to screen for differentially expressed genes. By verification of results from the RAP-PCR fingerprint screening using real-time RT-PCR, we identified t...
Cloning, comparative sequence analysis and mRNA expression of calcium-transporting genes in horses.
General and comparative endocrinology    March 11, 2010   Volume 167, Issue 1 6-10 doi: 10.1016/j.ygcen.2010.02.022
Rourke KM, Coe S, Kohn CW, Rosol TJ, Mendoza FJ, Toribio RE.Epithelial calcium transport occurs by paracellular and transcellular mechanisms. Transcellular transport in intestinal and renal epithelia involves several transport proteins, including transient receptor potential vanilloid member 5 (TRPV5), member 6 (TRPV6), calbindin D9k (CB9), calbindin D28k (CB28), sodium calcium exchanger 1 (NCX1), plasma membrane calcium ATPase 1 (PMCA1), and the vitamin D receptor (VDR). We are interested in the horse because of its unique calcium physiology (high blood calcium, high intestinal calcium absorption, high renal excretion of calcium, low vitamin D concent...
Gene expression profiling from leukocytes of horses affected by osteochondrosis.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society    January 29, 2010   Volume 28, Issue 7 965-970 doi: 10.1002/jor.21089
Serteyn D, Piquemal D, Vanderheyden L, Lejeune JP, Verwilghen D, Sandersen C.Osteochondrosis (OC) is a developmental disease that affects growing horses and that severely affects their ability to perform. The genetic basis of its pathogenesis is poorly understood. The aim of the study was to analyze the transcript profile of leukocytes from horses affected with OC. Two transcriptome libraries were constructed from leukocytes of OC-affected and non-OC-affected horses using digital gene expression analysis (DGE) and real-time PCR. Statistical analysis allowed selection of 1,008 tags upregulated in the non-OC-affected group and 1,545 tags upregulated in the OC-affected gr...
Analysis of MHC class I genes across horse MHC haplotypes.
Immunogenetics    January 23, 2010   Volume 62, Issue 3 159-172 doi: 10.1007/s00251-009-0420-9
Tallmadge RL, Campbell JA, Miller DC, Antczak DF.The genomic sequences of 15 horse major histocompatibility complex (MHC) class I genes and a collection of MHC class I homozygous horses of five different haplotypes were used to investigate the genomic structure and polymorphism of the equine MHC. A combination of conserved and locus-specific primers was used to amplify horse MHC class I genes with classical and nonclassical characteristics. Multiple clones from each haplotype identified three to five classical sequences per homozygous animal and two to three nonclassical sequences. Phylogenetic analysis was applied to these sequences, and gr...
Detection of prohibited animal products in livestock feeds by single-strand conformation polymorphism analysis.
Journal of food protection    January 7, 2010   Volume 73, Issue 1 119-124 doi: 10.4315/0362-028x-73.1.119
Huby-Chilton F, Murphy J, Chilton NB, Gajadhar AA, Blais BW.Single-strand conformation polymorphism (SSCP) analysis of amplicons produced from a mitochondrial DNA region between the tRNA(Lys) and ATPase8 genes was applied for the detection of animal product within livestock feeds. Identification of prohibited animal (cattle, elk, sheep, deer, and goat) and nonprohibited animal (pig and horse) products from North America was possible based on the differential display of the single-stranded DNA fragments for the different animal species on SSCP gels. This method allowed specific detection and identification of mixed genomic DNA from different animal spec...
Assessing the efficiency of a pharmacokinetic-based algorithm for target-controlled infusion of ketamine in ponies.
Research in veterinary science    January 6, 2010   Volume 88, Issue 3 512-518 doi: 10.1016/j.rvsc.2009.12.004
Levionnois OL, Mevissen M, Thormann W, Spadavecchia C.The objective of this study was to assess a pharmacokinetic algorithm to predict ketamine plasma concentration and drive a target-controlled infusion (TCI) in ponies. Firstly, the algorithm was used to simulate the course of ketamine enantiomers plasma concentrations after the administration of an intravenous bolus in six ponies based on individual pharmacokinetic parameters obtained from a previous experiment. Using the same pharmacokinetic parameters, a TCI of S-ketamine was then performed over 120 min to maintain a concentration of 1 microg/mL in plasma. The actual plasma concentrations of ...
Transcriptional adaptations following exercise in thoroughbred horse skeletal muscle highlights molecular mechanisms that lead to muscle hypertrophy.
BMC genomics    December 30, 2009   Volume 10 638 doi: 10.1186/1471-2164-10-638
McGivney BA, Eivers SS, MacHugh DE, MacLeod JN, O'Gorman GM, Park SD, Katz LM, Hill EW.Selection for exercise-adapted phenotypes in the Thoroughbred racehorse has provided a valuable model system to understand molecular responses to exercise in skeletal muscle. Exercise stimulates immediate early molecular responses as well as delayed responses during recovery, resulting in a return to homeostasis and enabling long term adaptation. Global mRNA expression during the immediate-response period has not previously been reported in skeletal muscle following exercise in any species. Also, global gene expression changes in equine skeletal muscle following exercise have not been reported...
Evaluation of shape variability of stallion sperm heads by means of image analysis and Fourier descriptors.
Animal reproduction science    December 16, 2009   Volume 119, Issue 1-2 50-55 doi: 10.1016/j.anireprosci.2009.12.007
Severa L, Máchal L, Svábová L, Mamica O.This study quantified and evaluated the variability of sperm head shape for 10 different stallions. Sperm head shape characteristics including sperm head length to width ratio, position of the center of gravity, curvature, and degree of roundness were assessed and analysed from images using elliptic Fourier descriptors and inverse Fourier transformation. The first four principal components accounted for 88.46-92.33% of the total variance and provided a good summary of the overall data. In the case of the ejaculate with defective sperm heads the components accounted for 97.35-98.21% of variatio...
Identification of horse chestnut coat color genotype using SNaPshot.
BMC research notes    December 16, 2009   Volume 2 255 doi: 10.1186/1756-0500-2-255
Rendo F, Iriondo M, Manzano C, Estonba A.The Cantabrian Coast horse breeds of the Iberian Peninsula have mainly black or bay colored coats, but alleles responsible for a chestnut coat color run in these breeds and occasionally, chestnut horses are born. Chestnut coat color is caused by two recessive alleles, e and e(a), of the melanocortin-1 receptor gene, whereas the presence of the dominant, wild-type E allele produces black or bay coat horses. Because black or bay colored coats are considered as the purebred phenotype for most of the breeds from this region, it is important to have a fast and reliable method to detect alleles caus...
Selection of reference genes for quantitative real-time PCR in equine in vivo and fresh and frozen-thawed in vitro blastocysts.
BMC research notes    December 11, 2009   Volume 2 246 doi: 10.1186/1756-0500-2-246
Smits K, Goossens K, Van Soom A, Govaere J, Hoogewijs M, Vanhaesebrouck E, Galli C, Colleoni S, Vandesompele J, Peelman L.Application of reverse transcription quantitative real-time polymerase chain reaction is very well suited to reveal differences in gene expression between in vivo and in vitro produced embryos. Ultimately, this may lead to optimized equine assisted reproductive techniques. However, for a correct interpretation of the real-time PCR results, all data must be normalized, which is most reliably achieved by calculating the geometric mean of the most stable reference genes. In this study a set of reliable reference genes was identified for equine in vivo and fresh and frozen-thawed in vitro embryos....
Development of a novel equine whole transcript oligonucleotide GeneChip microarray and its use in gene expression profiling of normal articular-epiphyseal cartilage.
Equine veterinary journal    November 26, 2009   Volume 41, Issue 7 663-670 doi: 10.2746/042516409x412381
Gläser KE, Sun Q, Wells MT, Nixon AJ.No large scale equine microarray is available commercially to allow genomic and transcriptional profiling of the majority of genes that would define the genetic basis of equine disease. Objective: To generate a whole transcript target labelled GeneChip to interrogate the equine transcriptome and validate chip performance using RNA samples derived from organs, articular cells and normal cartilage. Methods: Equine mRNA and selected equine gene sequences derived from perfect cross-hybridisation of equine RNA on human microarray GeneChips, were used to design a custom equine gene microarray. Seque...
Characterization of a minimal microsatellite set for whole genome scans informative in warmblood and coldblood horse breeds.
The Journal of heredity    November 25, 2009   Volume 101, Issue 2 246-250 doi: 10.1093/jhered/esp091
Mittmann EH, Lampe V, Mömke S, Zeitz A, Distl O.The availability of a high-quality draft sequence of the horse makes known the physical location of microsatellites. The aim of the present study was to establish a highly polymorphic minimal screening set of microsatellite markers for horses (MSSH) annotated on the horse genome assembly EquCab2.0. We have used the previously reported linkage and radiation hybrid maps and have extended these marker sets by filling in gaps as noted from annotation on the horse sequence. This MSSH covers all autosomes and the X chromosome with 322 evenly spaced microsatellites whose positions were determined on ...
Cloning, sequencing and expression analysis of the equine hepcidin gene by real-time PCR.
Veterinary immunology and immunopathology    November 2, 2009   Volume 135, Issue 1-2 34-42 doi: 10.1016/j.vetimm.2009.10.027
Oliveira Filho JP, Badial PR, Cunha PHJ, Cruz TF, Araújo JP, Divers TJ, Winand NJ, Borges AS.Equine serum or plasma iron concentration drops quickly during inflammation. Accumulation of iron inside macrophages and reduction of the intestinal absorption of this element cause hypoferremia during systemic inflammatory processes. These mechanisms are mediated by hepcidin, a 25 amino acids peptide synthesized mainly in the liver in response to iron stores and inflammation. Hepcidin is an important peptide for systemic iron homeostasis and also has antibacterial and antifungal activities. Hepcidin up-regulation is particularly useful during acute inflammation, especially before adaptive imm...
Horse breed discrimination using machine learning methods.
Journal of applied genetics    October 31, 2009   Volume 50, Issue 4 375-377 doi: 10.1007/BF03195696
Burocziova M, Riha J.Genetic relationships and population structure of 8 horse breeds in the Czech and Slovak Republics were investigated using classification methods for breed discrimination. To demonstrate genetic differences among these breeds, we used genetic information - genotype data of microsatellite markers and classification algorithms - to perform a probabilistic prediction of an individual's breed. In total, 932 unrelated animals were genotyped for 17 microsatellite markers recommended by the ISAG for parentage testing (AHT4, AHT5, ASB2, HMS3, HMS6, HMS7, HTG4, HTG10, VHL20, HTG6, HMS2, HTG7, ASB17, AS...
The molecular phylogeny of uterine serpins and its relationship to evolution of placentation.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology    October 13, 2009   Volume 24, Issue 2 526-537 doi: 10.1096/fj.09-138453
Padua MB, Kowalski AA, Cañas MY, Hansen PJ.Uterine serpins (USs), designated as SERPINA14, are expressed in the endometrium in response to progesterone. All species identified as having USs exhibit epitheliochorial placentation and are in the Ruminantia and Suidae orders of the Laurasiatheria superorder. The objective was to identify US genes in species within and outside Laurasiatheria and evaluate whether evolution of the US gene was associated with development of the epitheliochorial placenta. Through queries of nucleotide and genomic databases, known US genes were identified (caprine, bovine, porcine, water buffalo), and new US cod...
Structural and functional-annotation of an equine whole genome oligoarray.
BMC bioinformatics    October 8, 2009   Volume 10 Suppl 11, Issue Suppl 11 S8 doi: 10.1186/1471-2105-10-S11-S8
Bright LA, Burgess SC, Chowdhary B, Swiderski CE, McCarthy FM.The horse genome is sequenced, allowing equine researchers to use high-throughput functional genomics platforms such as microarrays; next-generation sequencing for gene expression and proteomics. However, for researchers to derive value from these functional genomics datasets, they must be able to model this data in biologically relevant ways; to do so requires that the equine genome be more fully annotated. There are two interrelated types of genomic annotation: structural and functional. Structural annotation is delineating and demarcating the genomic elements (such as genes, promoters, and ...
Equine transcriptome quantification using human GeneChip arrays can be improved using genomic DNA hybridisation and probe selection.
Veterinary journal (London, England : 1997)    September 27, 2009   Volume 186, Issue 3 323-327 doi: 10.1016/j.tvjl.2009.08.030
Graham NS, Clutterbuck AL, James N, Lea RG, Mobasheri A, Broadley MR, May ST.Affymetrix GeneChip arrays are a powerful tool for transcriptome profiling and have been applied to a wide range of species. A genomic DNA (gDNA)-based probe selection method has been developed which broadens the range of species to which GeneChips may be successfully applied. This study demonstrated that gDNA-based probe selection on the Affymetrix U133+2 GeneChip array can be used to study the equine transcriptome which, to date, has received only limited attention. More than 29,000 transcripts can be detected in equine brain and liver and in primary cultures of equine articular chondrocytes...
Identification of 21 781 equine microsatellites on the horse genome assembly 2.0.
Animal genetics    September 26, 2009   Volume 41, Issue 2 222 doi: 10.1111/j.1365-2052.2009.01970.x
Mittmann EH, Wrede J, Pook J, Distl O.No abstract available
Determination of genomic DNA sequences for beta-tubulin isotype 1 from multiple species of cyathostomin and detection of resistance alleles in third-stage larvae from horses with naturally acquired infections.
Parasites & vectors    September 25, 2009   Volume 2 Suppl 2, Issue Suppl 2 S6 doi: 10.1186/1756-3305-2-S2-S6
Lake SL, Matthews JB, Kaplan RM, Hodgkinson JE.Genetic resistance against benzimidazole (BZ) anthelmintics is widespread in cyathostomins, the commonest group of intestinal parasitic nematodes of horses. Studies of BZ-resistant nematodes of sheep, particularly Haemonchus contortus, have indicated that an anthelmintic resistance-conferring T/A polymorphism, encoding an F (phenylalanine) to Y (tyrosine) substitution, in beta-tubulin isotype 1 is present at two loci, codons 167 and 200 (F167Y, F200Y). Recent studies using complementary (c) DNA derived from BZ-susceptible and -resistant cyathostomins identified statistical differences in the f...
Transcriptional profiling differences for articular cartilage and repair tissue in equine joint surface lesions.
BMC medical genomics    September 14, 2009   Volume 2 60 doi: 10.1186/1755-8794-2-60
Mienaltowski MJ, Huang L, Frisbie DD, McIlwraith CW, Stromberg AJ, Bathke AC, Macleod JN.Full-thickness articular cartilage lesions that reach to the subchondral bone yet are restricted to the chondral compartment usually fill with a fibrocartilage-like repair tissue which is structurally and biomechanically compromised relative to normal articular cartilage. The objective of this study was to evaluate transcriptional differences between chondrocytes of normal articular cartilage and repair tissue cells four months post-microfracture. Methods: Bilateral one-cm2 full-thickness defects were made in the articular surface of both distal femurs of four adult horses followed by subchond...
Identification of racehorse and sample contamination by novel 24-plex STR system.
Forensic science international. Genetics    September 2, 2009   Volume 4, Issue 3 158-167 doi: 10.1016/j.fsigen.2009.08.001
Chen JW, Uboh CE, Soma LR, Li X, Guan F, You Y, Liu Y.Proper identification of racehorses competing in an official race and maintenance of defensible chain of custody are important in doping control regulations. The purpose of this study was to develop a reliable multiplex PCR method for providing genetic evidence for matching donors to test samples by using short tandem repeat (STR) loci. Amplification of 21 STR loci from blood, urine or hair root was achieved in a single tube and STR length polymorphism was analyzed using fluorescent labeled capillary electrophoresis. This novel approach showed an allele confidence interval of 0.19-0.43 bp and ...
Expressed gene sequences of the equine cytokines interleukin-17 and interleukin-23.
Veterinary immunology and immunopathology    August 19, 2009   Volume 133, Issue 2-4 309-313 doi: 10.1016/j.vetimm.2009.08.008
Tompkins D, Hudgens E, Horohov D, Baldwin CL.This report describes the initial cloning and characterization of the equine interleukin-17 (IL-17) expressed gene sequence from mRNA obtained from equine intestinal tissue and interleukin-23 (IL-23) expressed gene sequence from mRNA obtained from equine peripheral blood mononuclear cells. Equine IL-17 has 462 nucleotides in the translated region, determined by homology with known human and mouse sequences, and shares 84% and 75% identity, respectively. For the deduced amino acid sequences, the identity with human and mouse is 76% and 70%. Equine IL-23 has 579 nucleotides in the translated reg...
Identification of a new quantitative trait locus on equine chromosome 18 responsible for osteochondrosis in Hanoverian warmblood horses.
Journal of animal science    August 14, 2009   Volume 87, Issue 11 3477-3481 doi: 10.2527/jas.2009-1946
Lampe V, Dierks C, Komm K, Distl O.In this study we present a newly detected QTL associated with osteochondrosis in Hanoverian warmblood horses on equine chromosome 18 (ECA18). We developed a highly polymorphic and evenly distributed marker set on ECA18 employing the horse genome assembly EquCab2. The marker set included 11 newly developed microsatellites. Average polymorphism information content was 62.1% at an average spacing of 3 Mb. For genotyping of this marker set comprising a total of 27 highly polymorphic microsatellites, we used the same 14 paternal half-sib families as in the previous whole genome scan. The chromosome...
Gene expression profiling in equine polysaccharide storage myopathy revealed inflammation, glycogenesis inhibition, hypoxia and mitochondrial dysfunctions.
BMC veterinary research    August 7, 2009   Volume 5 29 doi: 10.1186/1746-6148-5-29
Barrey E, Mucher E, Jeansoule N, Larcher T, Guigand L, Herszberg B, Chaffaux S, Guérin G, Mata X, Benech P, Canale M, Alibert O, Maltere P, Gidrol X.Several cases of myopathies have been observed in the horse Norman Cob breed. Muscle histology examinations revealed that some families suffer from a polysaccharide storage myopathy (PSSM). It is assumed that a gene expression signature related to PSSM should be observed at the transcriptional level because the glycogen storage disease could also be linked to other dysfunctions in gene regulation. Thus, the functional genomic approach could be conducted in order to provide new knowledge about the metabolic disorders related to PSSM. We propose exploring the PSSM muscle fiber metabolic disorder...
Analysis of complete genome sequence of Neorickettsia risticii: causative agent of Potomac horse fever.
Nucleic acids research    August 6, 2009   Volume 37, Issue 18 6076-6091 doi: 10.1093/nar/gkp642
Lin M, Zhang C, Gibson K, Rikihisa Y.Neorickettsia risticii is an obligate intracellular bacterium of the trematodes and mammals. Horses develop Potomac horse fever (PHF) when they ingest aquatic insects containing encysted N. risticii-infected trematodes. The complete genome sequence of N. risticii Illinois consists of a single circular chromosome of 879 977 bp and encodes 38 RNA species and 898 proteins. Although N. risticii has limited ability to synthesize amino acids and lacks many metabolic pathways, it is capable of making major vitamins, cofactors and nucleotides. Comparison with its closely related human pathogen N. senn...
Equine alpha S1-casein: characterization of alternative splicing isoforms and determination of phosphorylation levels.
Journal of dairy science    July 22, 2009   Volume 92, Issue 8 3604-3615 doi: 10.3168/jds.2009-2125
Matéos A, Miclo L, Mollé D, Dary A, Girardet JM, Gaillard JL.alpha(S1)-Casein was isolated from Haflinger mare's milk by hydrophobic interaction chromatography and displayed great micro-heterogeneity by 2-dimensional electrophoresis, probably because of a variable degree of phosphorylation and alternative splicing events. The aim of the present work was to investigate the complexity of the mare's alpha(S1)-casein. The different isoforms present in milk were submitted to a double treatment of dephosphorylation, first by using alkaline phosphatase and then acid phosphatase to achieve complete dephosphorylation. The apoforms were then analyzed by electrosp...
Rational design of synthetic peptides to generate antibodies that recognize in situ CD11c(+) putative dendritic cells in horse lymph nodes.
Veterinary immunology and immunopathology    July 2, 2009   Volume 132, Issue 2-4 181-190 doi: 10.1016/j.vetimm.2009.06.017
Espino-Solis GP, Calderon-Amador J, Calderon-Aranda ES, Licea AF, Donis-Maturano L, Flores-Romo L, Possani LD.A three-dimensional model of the alphaX I-domain of the horse integrin CD11c from dendritic cells provided information for selecting two segments of the primary structure for peptide synthesis. Peptide 1 contains 20 amino acids and peptide 2 has 17 amino acid residues. The first spans from position Thr229 to Arg248 of an alpha-helix segment of the structure, whereas peptide 2 goes from Asp158 to Phe174 and corresponds to an exposed segment of the loop considered to be the metal ion-dependent adhesion site. Murine polyclonal antisera against both peptides were generated and assayed in periphera...
Polymorphism and selection in the major histocompatibility complex DRA and DQA genes in the family Equidae.
Immunogenetics    June 26, 2009   Volume 61, Issue 7 513-527 doi: 10.1007/s00251-009-0380-0
Janova E, Matiasovic J, Vahala J, Vodicka R, Van Dyk E, Horin P.The major histocompatibility complex genes coding for antigen binding and presenting molecules are the most polymorphic genes in the vertebrate genome. We studied the DRA and DQA gene polymorphism of the family Equidae. In addition to 11 previously reported DRA and 24 DQA alleles, six new DRA sequences and 13 new DQA alleles were identified in the genus Equus. Phylogenetic analysis of both DRA and DQA sequences provided evidence for trans-species polymorphism in the family Equidae. The phylogenetic trees differed from species relationships defined by standard taxonomy of Equidae and from trees...
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