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Topic:Genes

Genes in horses are segments of DNA that encode the biological instructions necessary for the development, functioning, and reproduction of equine species. These genetic sequences influence a wide range of traits, including coat color, speed, endurance, and susceptibility to diseases. Genetic research in horses focuses on identifying specific genes and genetic markers associated with these traits, as well as understanding the inheritance patterns and genetic diversity within and between horse breeds. Studies in equine genetics contribute to breeding programs, disease prevention strategies, and the overall understanding of horse biology. This page compiles peer-reviewed research studies and scholarly articles that explore the identification, function, and implications of genes in equine health and performance.
Genome-wide search for markers associated with osteochondrosis in Hanoverian warmblood horses.
Mammalian genome : official journal of the International Mammalian Genome Society    September 29, 2007   Volume 18, Issue 10 739-747 doi: 10.1007/s00335-007-9058-9
Dierks C, Löhring K, Lampe V, Wittwer C, Drögemüller C, Distl O.A genome-wide scan was performed to detect quantitative trait loci (QTLs) for osteochondrosis (OC) and osteochondrosis dissecans (OCD) in horses. The marker set comprised 260 microsatellites. We collected data from 211 Hanoverian warmblood horses consisting of 14 paternal half-sib families. Traits used were OC (fetlock and/or hock joints affected), OCD (fetlock and/or hock joints affected), fetlock OC, fetlock OCD, hock OC, and hock OCD. The first genome scan included 172 microsatellite markers. In a second step 88 additional markers were chosen to refine putative QTLs found in the first scan....
Validation of quantitative polymerase chain reaction assays for measuring cytokine expression in equine macrophages.
Journal of immunological methods    September 4, 2007   Volume 328, Issue 1-2 59-69 doi: 10.1016/j.jim.2007.08.006
Allen CA, Payne SL, Harville M, Cohen N, Russell KE.The study of the equine immune system and inflammatory responses, by measuring cytokine expression, can provide important insight into disease pathogenesis in the horse. A set of quantitative real-time polymerase chain reaction (QPCR) assays for the equine cytokines IL-1alpha, IL-1beta, IL-6, IL-8 and TNF-alpha were validated using QPCR primers and probes which were generated for the equine IL-1alpha, IL-1beta, IL-6, IL-8, TNF-alpha and 18S genes. Amplification efficiency, intra-assay and inter-assay variation were determined using 10-fold dilutions of plasmid for each gene. Under these condit...
Characterization of the equine glycogen debranching enzyme gene (AGL): Genomic and cDNA structure, localization, polymorphism and expression.
Gene    August 23, 2007   Volume 404, Issue 1-2 1-9 doi: 10.1016/j.gene.2007.07.034
Herszberg B, Mata X, Giulotto E, Decaunes P, Piras FM, Chowdhary BP, Chaffaux S, Guérin G.Glycogen debranching enzyme (AGL) is a multifunctional enzyme acting in the glycogen degradation pathway. In humans, the AGL activity deficiency causes a type III glycogen storage disease (Cori-Forbes disease). One particularity of AGL gene expression lies in the multiple alternative splicing in its 5' region. The AGL gene was localized on ECA5q14-q15. The sequence of the equine cDNA was determined to be 7.5 kb in length with an open reading frame of 4602 bp. The gene is 69 kb long and contains 35 exons. The equine AGL gene has an ubiquitous expression and presents five tissue-dependent cDNA v...
Changes in major proteins in the embryonic capsule during immobilization (fixation) of the conceptus in the third week of pregnancy in the mare.
Reproduction (Cambridge, England)    July 21, 2007   Volume 134, Issue 1 161-170 doi: 10.1530/REP-06-0241
Quinn BA, Hayes MA, Waelchli RO, Kennedy MW, Betteridge KJ.During the third week of pregnancy, the equine conceptus is enclosed within a capsule, the glycan composition of which changes at around day 16 (ovulation = day 0) when the conceptus becomes immobilized (fixed) in the uterine lumen. Our objective was to characterize the process of fixation by identifying changes in major capsule-associated proteins. Individual equine conceptuses (n = 55) were collected transcervically by uterine lavage between days 13.5 and 26.5. Major proteins extracted from capsules were compared with those in fluids from the uterus and yolk sac by SDS-PAGE. Until day 14, a ...
Bovine papillomavirus load and mRNA expression, cell proliferation and p53 expression in four clinical types of equine sarcoid.
The Journal of general virology    July 12, 2007   Volume 88, Issue Pt 8 2155-2161 doi: 10.1099/vir.0.82876-0
Bogaert L, Van Poucke M, De Baere C, Dewulf J, Peelman L, Ducatelle R, Gasthuys F, Martens A.Equine sarcoids, the most common skin tumours in horses, are induced by bovine papillomavirus (BPV). Their clinical appearance varies from small stable patches to aggressively growing masses. Differences in BPV load and mRNA expression and Ki67 and p53 immunostaining among four clinical types (fibroblastic, occult, nodular and verrucous sarcoids) were evaluated to test the hypothesis that the clinical behaviour of equine sarcoids correlates with BPV activity. Viral load and expression of the BPV E2, E5, E6 and E7 genes were determined using quantitative real-time PCR. The proliferative fractio...
Diversity in Indian equine rotaviruses: identification of genotype G10,P6[1] and G1 strains and a new VP7 genotype (G16) strain in specimens from diarrheic foals in India.
Journal of clinical microbiology    July 7, 2007   Volume 45, Issue 7 2354 doi: 10.1128/JCM.00900-07
Gulati BR, Deepa R, Singh BK, Rao CD.No abstract available
Active expression of matrix metalloproteinase-13 mRNA in the granulation tissue of equine superficial digital flexor tendinitis.
The Journal of veterinary medical science    July 6, 2007   Volume 69, Issue 6 637-639 doi: 10.1292/jvms.69.637
Nomura M, Hosaka Y, Kasashima Y, Ueda H, Takehana K, Kuwano A, Arai K.The DNA microarray analysis for matrix metalloproteinase (MMP)-related mRNA expression in equine superficial digital flexor tendinitis indicated that mRNA level of MMP-13 was apparently up-regulated in the tendinitis as compared to normal tendon. In situ hybridization also revealed that fibroblastic cells proliferated in the granulation tissue generated in the tendinitis actively expressed MMP-13 mRNA. On the other hand, in normal tendon, a few fibroblastic cells and vascular components lied in the endotenon barely expressed its mRNA, but other cellular components in the tendon bundle were not...
Chromosomal assignment of five equine genes responsible for the development of the skeletal and nervous systems.
Animal genetics    July 5, 2007   Volume 38, Issue 4 425-426 doi: 10.1111/j.1365-2052.2007.01624.x
Zabek T, Bugno M, Klukowska-Rötzler J, Uhlmann B, Gerber V, Słota E.The research article focuses on identifying the locations of five horse genes related to the development of the skeletal and nervous systems. Sequence Analysis and Bacterial Artificial Chromosome (BAC) Library […]
Hsp90 mediates insulin-like growth factor 1 and interleukin-1beta signaling in an age-dependent manner in equine articular chondrocytes.
Arthritis and rheumatism    June 30, 2007   Volume 56, Issue 7 2335-2343 doi: 10.1002/art.22664
Boehm AK, Seth M, Mayr KG, Fortier LA.Many metabolic processes in chondrocytes thought to contribute to age-related changes in the extracellular matrix are influenced by known roles of Hsp90. Age-related decreases in the level of Hsp90 have been documented in numerous cell types and could contribute to cartilage degeneration. The aim of this study was to investigate the roles of age and Hsp90 in insulin-like growth factor 1 (IGF-1) and interleukin-1beta (IL-1beta) signaling in chondrocytes. Methods: Levels of Hsp90 messenger RNA (mRNA) and protein, with respect to age, were determined by quantitative real-time polymerase chain rea...
Relevance of using a human microarray to study gene expression in heaves-affected horses.
Veterinary journal (London, England : 1997)    June 18, 2007   Volume 177, Issue 2 216-221 doi: 10.1016/j.tvjl.2007.04.020
Ramery E, Closset R, Bureau F, Art T, Lekeux P.Environmental causes of heaves are well described, but the molecular mechanisms of the disease remain unclear. Previous studies have highlighted the implications of variations in gene expression, most using reverse transcription polymerase chain reaction (RT-PCR). This well-known technique limits the number of genes that can be studied in a single assay. Microarray appears to be a valuable tool to by-pass this limitation, but so far there has been no equine-specific microarray available on the market. The present study was performed to determine whether a human microarray could be used to stud...
The role of p38 mitogen-activated kinase (MAPK) in the mechanism regulating cyclooxygenase gene expression in equine leukocytes.
Veterinary immunology and immunopathology    June 13, 2007   Volume 118, Issue 3-4 294-303 doi: 10.1016/j.vetimm.2007.06.001
Eckert RE, Neuder LE, Bell JL, Trujillo JC, Jones SL.The goal of this study was to define the role for p38 mitogen-activated kinase (MAPK) in the signaling mechanism regulating pro-inflammatory cyclooxygenase (COX) gene expression in lipopolysaccharide (LPS)-activated equine leukocytes for the purposes of identifying novel targets for anti-inflammatory therapy in endotoxemic horses. The p38 MAPK has been shown to positively regulate inflammatory gene expression in human leukocytes and can be activated by a variety of stimuli including LPS, TNF-alpha, and IL-1. Activation-associated phosphorylated p38 MAPK has been implicated in the up-regulation...
Mapping quantitative trait loci for osteochondrosis in fetlock and hock joints and palmar/plantar osseus fragments in fetlock joints of South German Coldblood horses.
Animal genetics    June 9, 2007   Volume 38, Issue 4 350-357 doi: 10.1111/j.1365-2052.2007.01610.x
Wittwer C, Löhring K, Drögemüller C, Hamann H, Rosenberger E, Distl O.The aim of this study was to identify quantitative trait loci (QTL) for osteochondrosis (OC) and palmar/plantar osseous fragments (POF) in fetlock joints in a whole-genome scan of 219 South German Coldblood horses. Symptoms of OC and POF were checked by radiography in 117 South German Coldblood horses at a mean age of 17 months. The radiographic examination comprised the fetlock and hock joints of all limbs. The genome scan included 157 polymorphic microsatellite markers. All microsatellite markers were equally spaced over the 31 autosomes and the X chromosome, with an average distance of 17.7...
Fluorescent in situ hybridization mapping of the epidermal growth factor receptor gene in donkey.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    June 7, 2007   Volume 124, Issue 3 172-174 doi: 10.1111/j.1439-0388.2007.00652.x
Bugno M, Klukowka-Rötzler J, Słota E, Witarski W, Gerber V, Leeb T.The physical localization of the epidermal growth factor receptor (EGFR) gene was performed on donkey chromosomes. Bacterial artificial chromosome DNA containing the equine EGFR gene was used to map this gene by fluorescent in situ hybridization on donkey metaphase chromosomes. The gene was mapped on donkey 1q21.1 region.
Evaluation of Compass as a comparative mapping tool for ESTs using horse radiation hybrid maps.
Animal genetics    June 2, 2007   Volume 38, Issue 3 294-302 doi: 10.1111/j.1365-2052.2007.01603.x
Coleman SJ, Gong G, Gaile DP, Chowdhary BP, Bailey E, Liu L, MacLeod JN.Loci for 9322 equine expressed sequence tags (ESTs) were predicted using the Comparative Mapping by Annotation and Sequence Similarity (Compass) strategy in order to evaluate the programme's ability to make accurate locus predictions in species with comparative gene maps. Using human genome sequence information from Build 35 (May 2004) and published marker information from the radiation hybrid (RH) maps for equine chromosomes (ECA) 17 and X, 162 ESTs were predicted to locations on ECA17 and 328 ESTs to locations on ECAX by selection of the 'top blast hit'. The locations of 30 ESTs were assesse...
Genes and respiratory disease: a first step on a long journey.
Equine veterinary journal    May 25, 2007   Volume 39, Issue 3 270-274 doi: 10.2746/042516407x194296
Ewart SL, Robinson NE.This review highlights the critical importance of phenotype definition in the understanding of the pathogenesis of respiratory disease in horses. The general approach to genetic studies is discussed and comparative studies of recurrent airway obstruction (RAO) conditions, such as asthma, described in the context of learning more about equivalent equine conditions. The availability of methods to study genetic tests have previously relied on DNA sequence knowledge from man, laboratory and domesticated animals, but recent data from the horse genome sequence are now available. This should facilita...
Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse.
Genomics    May 11, 2007   Volume 90, Issue 1 93-102 doi: 10.1016/j.ygeno.2007.03.009
Tryon RC, White SD, Bannasch DL.Hereditary equine regional dermal asthenia (HERDA), a degenerative skin disease that affects the Quarter Horse breed, was localized to ECA1 by homozygosity mapping. Comparative genomics allowed the development of equine gene-specific markers which were used with a set of affected horses to detect a homozygous, identical-by-descent block spanning approximately 2.5 Mb, suggesting a recent origin for the HERDA mutation. We report a mutation in cyclophilin B (PPIB) as a novel, causal candidate gene for HERDA. A c.115G>A missense mutation in PPIB alters a glycine residue that has been conserved acr...
Real-time quantitative RT-PCR and PCR assays for a novel European field isolate of equine infectious anaemia virus based on sequence determination of the gag gene.
The Veterinary record    May 8, 2007   Volume 160, Issue 18 611-618 doi: 10.1136/vr.160.18.611
Quinlivan M, Cook RF, Cullinane A.In 2006, an outbreak of equine infectious anaemia (EIA) occurred in Ireland. The initial source of the outbreak is believed to have been contaminated plasma imported from Italy. This paper presents the nucleotide sequence of the gag gene of the virus identified in Ireland (EIAV(Ire)), the first for a European strain of EIAV. Comparison of the gag gene with North American and Asian strains of the virus showed that the gag gene is less well conserved than previously believed, and that EIAV strains can have similar phenotypes despite considerable variations in genotype. On the basis of the deduce...
Susceptibility of mammalian deoxyribonucleases I (DNases I) to proteolysis by proteases and its relationships to tissue distribution: biochemical and molecular analysis of equine DNase I.
Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology    May 5, 2007   Volume 148, Issue 1 93-102 doi: 10.1016/j.cbpb.2007.04.018
Ueki M, Takeshita H, Fujihara J, Ueta G, Nakajima T, Kominato Y, Kishi K, Iida R, Yasuda T.Equine (Equus caballus) deoxyribonuclease I (DNase I) was purified from the parotid gland, and its 1295-bp cDNA was cloned. The mature equine DNase I protein consisted of 260 amino acid residues. The enzymatic properties and structural aspects of the equine enzyme were closely similar to those of other mammalian DNases I. Mammalian DNases I are classified into three types--pancreatic, parotid and pancreatic-parotid-based on their tissue distribution; as equine DNase I showed the highest activity in the parotid gland, it was confirmed to be of the parotid-type. Comparison of the susceptibility ...
A polymorphism within the equine CRISP3 gene is associated with stallion fertility in Hanoverian warmblood horses.
Animal genetics    April 13, 2007   Volume 38, Issue 3 259-264 doi: 10.1111/j.1365-2052.2007.01594.x
Hamann H, Jude R, Sieme H, Mertens U, Töpfer-Petersen E, Distl O, Leeb T.Fertility of stallions is of high economic importance, especially for large breeding organisations and studs. Breeding schemes with respect to fertility traits and selection of stallions at an early stage may be improved by including molecular genetic markers associated with traits. The genes coding for equine cysteine-rich secretory proteins (CRISPs) are promising candidate genes because previous studies have shown that CRISPs play a role in the fertilising ability of male animals. We have previously characterised the three equine CRISP genes and identified a non-synonymous polymorphism in th...
MCT1 and CD147 gene polymorphisms in standardbred horses.
Equine veterinary journal. Supplement    April 4, 2007   Issue 36 322-325 doi: 10.1111/j.2042-3306.2006.tb05561.x
Reeben M, Koho NM, Raekallio M, Hyyppä S, Pösö AR.Transport of lactate across membranes is facilitated by proton-monocarboxylate transporters (MCT). The most widely distributed isoform is MCT1, which needs an ancillary protein CD147. Studies on erythrocytes have shown that high activity of MCT1 is inherited as the dominant allele and that activity is regulated through CD147. Mutations of human MCT1 have been described that appear to impair lactate transport in muscles and cause exertional rhabdomyolysis. There are no reports of this potential relationship in the horse. Objective: To obtain sequences of equine MCT1 and CD147 to examine differe...
Gene expression profiling in equine muscle tissues using mouse cDNA microarrays.
Equine veterinary journal. Supplement    April 4, 2007   Issue 36 359-364 doi: 10.1111/j.2042-3306.2006.tb05569.x
Mucher E, Jayr L, Rossignol F, Amiot F, Gidrol X, Barrey E.Progress could be achieved by using microarrays to understand metabolic adaptations and disorders in equine muscle in response to exercise. Objective: To test the feasibility of using mouse cDNA microarrays to analyse gene expression profile in normal equine muscles. Methods: Muscular biopsies of dorsal gluteus medius and longissimus lumborum were done in 4 healthy Standardbreds. Total RNA was extracted from the muscle samples. The concentration and quality of RNA were measured before and after amplification. Gene expression profiles were measured using mouse cDNA microarrays including 15,264 ...
Gene expression profiling in blood cells of endurance horses completing competition or disqualified due to metabolic disorder.
Equine veterinary journal. Supplement    April 4, 2007   Issue 36 43-49 doi: 10.1111/j.2042-3306.2006.tb05511.x
Barrey E, Mucher E, Robert C, Amiot F, Gidrol X.Genomics using cDNA microarrays could provide useful information about physiological adaptations and metabolic disorders in endurance horses. Objective: In order to show that genes are modulated in leucocytes in relationship with performance and clinical status of the horses, gene expression in leucocytes, haematological and biochemical parameters were compared between successful and disqualified endurance horses. Methods: Blood samples were collected at rest (TO) and just after a 140-160 km endurance race (T1) in 2 groups of horses: 10 continuing successful (S) and 10 disqualified horses stop...
Molecular genetic analysis of the ATP2A2 gene as candidate for chronic pastern dermatitis in German draft horses.
The Journal of heredity    March 29, 2007   Volume 98, Issue 3 267-271 doi: 10.1093/jhered/esm004
Mömke S, Distl O.Chronic pastern dermatitis predominantly affects draft horses, and this condition is characterized by hyperkeratotic-hyperplastic dermal alterations. Chronic pastern dermatitis resembles the acral-hemorrhagic phenotype of Darier-White disease in humans. The ATP2A2 gene has been shown to be responsible for human Darier-White. Thus, we chose ATP2A2 on equine chromosome 8 (ECA8) as candidate for chronic pastern dermatitis in coldblood horses. A linkage analysis was performed in 10 paternal half-sib families consisting of 85 German coldblood horses using a microsatellite closely linked to ATP2A2, ...
Classes and crossreactivity of proteinases in the excretory-secretory products of Caenorhabditis elegans.
Journal of helminthology    March 27, 2007   Volume 81, Issue 1 93-99 doi: 10.1017/S0022149X0724725X
Nic An Ultaigh S, Ryan MF.Proteinases released during the in vitro maintenance of asynchronous cultures of the free-living nematode Caenorhabditis elegans were characterized on the basis of subunit composition, fluorogenic substrate specificity, inhibitor sensitivity and pH optima. Cysteine proteinases are present in the excretory-secretory products (ESP) as indicated by the hydrolysis of cathepsin fluorogenic substrates and confirmed by immunoblotting. Serine proteinases were predominant as indicated by substrate gel analysis and inhibitor studies. The presence of metallo-proteinases was also indicated by inhibitor st...
Chromosomal assignment of the two candidate genes (EGFR, CLCA1) for equine recurrent airway obstruction (RAO) by FISH and RH mapping.
Hereditas    March 17, 2007   Volume 143, Issue 2006 138-141 doi: 10.1111/j.2006.0018-0661.01947.x
Klukowska-Rötzler J, Bugno M, Sander P, Slota E, Dolf G, Chowdhary BP, Leeb T, Gerber V.No abstract available
A 10-base-pair deletion in the gene encoding platelet glycoprotein IIb associated with Glanzmann thrombasthenia in a horse.
Journal of veterinary internal medicine    March 7, 2007   Volume 21, Issue 1 196-198 doi: 10.1892/0891-6640(2007)21[196:abditg]2.0.co;2
Christopherson PW, van Santen VL, Livesey L, Boudreaux MK.No abstract available
Heaves, genes, nerves, and Victorians.
Journal of veterinary internal medicine    March 7, 2007   Volume 21, Issue 1 1-2 
Robinson NE, Wilson MR.No abstract available
Vaccine potential of novel surface exposed and secreted proteins of Streptococcus equi.
Vaccine    February 26, 2007   Volume 25, Issue 30 5583-5590 doi: 10.1016/j.vaccine.2007.02.040
Timoney JF, Qin A, Muthupalani S, Artiushin S.Streptococcus equi, a clonal descendent of an ancestral S. zooepidemicus, causes equine strangles, a highly contagious purulent lymphadenitis of the head and neck. The aim of this study was to evaluate as vaccine components novel surface exposed or secreted S. equi proteins identified in an expression gene library with sera from resistant horses. Six proteins expressed by S. equi CF32 but not by S. zooepidemicus 631 were used to vaccinate one group of eight ponies. A second pony group was immunized with five adhesin and other proteins encoded by genes of Linkage Gr 1. All ponies made strong se...
Whole-genome linkage disequilibrium screening for complex traits in horses.
Molecular genetics and genomics : MGG    February 22, 2007   Volume 277, Issue 6 663-672 doi: 10.1007/s00438-007-0216-2
Tozaki T, Hirota K, Hasegawa T, Ishida N, Tobe T.The identification of candidate genes for significant traits is crucial. In this study, we developed and tested effective and systematic methods based on linkage disequilibrium (LD) for the identification of candidate regions for genes with Mendelian inheritance and those associated with complex traits. Our approach entailed the combination of primary screening using pooled DNA samples based on DeltaTAC, secondary screening using an individual typing method and tertiary screening using a permutation test based on the differences in the haplotype frequency between two neighbouring microsatellit...
In vivo expression of and cell-mediated immune responses to the plasmid-encoded virulence-associated proteins of Rhodococcus equi in foals.
Clinical and vaccine immunology : CVI    February 14, 2007   Volume 14, Issue 4 369-374 doi: 10.1128/CVI.00448-06
Jacks S, Giguère S, Prescott JF.Rhodococcus equi is a facultative intracellular pathogen that causes pneumonia in foals but does not induce disease in adult horses. Virulence of R. equi depends on the presence of a large plasmid, which encodes a family of seven virulence-associated proteins (VapA and VapC to VapH). Eradication of R. equi from the lungs depends on gamma interferon (IFN-gamma) production by T lymphocytes. The objectives of the present study were to determine the relative in vivo expression of the vap genes of R. equi in the lungs of infected foals, to determine the recall response of bronchial lymph node (BLN)...
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