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Topic:Genetics

Genetics in horses encompasses the study of hereditary traits and the genetic makeup that influences various characteristics and health conditions in equine populations. This field involves the analysis of genes and their functions, inheritance patterns, and the impact of genetic variations on traits such as coat color, performance ability, and susceptibility to diseases. Research in equine genetics employs techniques such as genome mapping, sequencing, and genetic testing to identify specific genes and mutations associated with these traits. This page gathers peer-reviewed research studies and scholarly articles that explore the genetic basis of equine traits, the methodologies used in genetic research, and the implications for breeding, health management, and conservation of horse breeds.
Evaluation of FOXC2 as a candidate gene for chronic progressive lymphedema in draft horses.
Veterinary journal (London, England : 1997)    August 1, 2006   Volume 174, Issue 2 397-399 doi: 10.1016/j.tvjl.2006.05.023
Young AE, Bower LP, Affolter VK, De Cock HE, Ferraro GL, Bannasch DL.Chronic progressive lymphedema (CPL) is a debilitating condition identified in Clydesdales, Shires and Belgian draft horses and results in progressive swelling of the lower legs associated with the development of thick skin folds, ulcerations, fibrosis and marked hyperkeratosis. The result is severe discomfort and recurrent secondary infection, often requiring euthanasia. Due to the delayed onset, many horses are bred prior to diagnosis. CPL has only been documented in three related draft horse breeds, suggesting a genetic cause. Determining the molecular basis would enable owners to test hors...
[PCR-RFLP analysis of the mtDNA Cytb gene in three different horse breeds].
Yi chuan = Hereditas    July 28, 2006   Volume 28, Issue 8 933-938 
Li JL, Shi YF, Bu RQ, Mang L.Restriction endonucleases, namely BamH I, Taq I, Hae III, Rsa I and Hinc II, were used to analyze the polymorphism of partial mtDNA Cytb gene sequences from 256 horses 6 types (Thoroughbred, Sanhe, Wuzhumuqin, Xinihe, Wushen and Pony) including the imported breed, cultivated breed and local breed. The products of endonuclease digestion were run on 8% non-denaturing polyacrylamide gel electrophoresis and detected by silver staining. Results indicated BamH I and Taq I polymorphism. In all 7 restriction patterns were defected that could be sorted into 3 haplotypes, of which haplotypes I and III w...
Development of the Lipizzan horse breed.
Reproduction in domestic animals = Zuchthygiene    July 28, 2006   Volume 41, Issue 4 280-285 doi: 10.1111/j.1439-0531.2006.00726.x
Dovc P, Kavar T, Sölkner H, Achmann R.The development and a brief history of the Lipizzan horse breed are reviewed. The contribution of several breeds, some of them already extinct, to the development of the Lipizzan horse, gives it a special status representing an important gene pool. This well-documented breed is a part of the common European natural and cultural heritage. Breeding practices establishing stallion and mare family lines as well as availability of pedigrees are described. Molecular analysis of mitochondrial DNA (mtDNA) and microsatellite data allowed us to analyse the structure of the Lipizzan population, to estima...
Derivation, maintenance, and induction of the differentiation in vitro of equine embryonic stem cells.
Methods in molecular biology (Clifton, N.J.)    July 19, 2006   Volume 329 59-79 doi: 10.1385/1-59745-037-5:59
Saito S, Sawai K, Minamihashi A, Ugai H, Murata T, Yokoyama KK.We describe here the isolation and maintenance of pluripotent embryonic stem (ES) cells from equine blastocysts that have been frozen and thawed. Equine ES cells appear to maintain a normal diploid karyotype in culture. These cells express markers that are characteristic of mouse ES cells, namely, alkaline phosphatase, stage-specific-embryonic antigen 1, STAT3, and Oct4. We also describe protocols for the induction of differentiation in vitro to neural precursor cells in the presence of basic fibroblast growth factor (bFGF), epidermal growth factor, and platelet-derived growth factor and to he...
Cloning and pharmacological characterization of the equine adenosine A3 receptor.
Journal of veterinary pharmacology and therapeutics    July 19, 2006   Volume 29, Issue 4 255-263 doi: 10.1111/j.1365-2885.2006.00748.x
Brandon CI, Vandenplas M, Dookwah H, Murray TF.The aim of this study was to establish a heterologous expression system for the equine adenosine A(3) receptor (eA(3)-R) in an effort to ascertain its pharmacologic profile. Initially, radioligand binding assays identified clones expressing the eA(3)-R in human embryonic kidney cells (HEK) based on the specific binding of [(125)I]AB-MECA. Subsequently, adenylate cyclase assays were utilized to demonstrate functional coupling of the eA(3)-R to the G-protein/adenylate cyclase system. Equilibrium competition binding assays were then performed using selective and non-selective A(3) agonists and an...
Myopathy with central cores in a foal.
Veterinary pathology    July 19, 2006   Volume 43, Issue 4 579-583 doi: 10.1354/vp.43-4-579
Paciello O, Pasolini MP, Navas L, Russo V, Papparella S.Central core disease is a nonprogressive or slowly progressive congenital myopathy with a variable degree of hypotonia and axial and proximal muscle weakness that is histologically characterized by areas devoid of oxidative enzyme activity, resulting from an absence or low numbers of mitochondria in these regions (central core). A 10-month-old, male, pony foal was examined because of stiff gait, marked contractures of the distal portion of the limbs, flexion deformities of the hooves, and moderate hypotonia that had been present from birth. The foal had increased creatine kinase (282 U/liter; ...
Diagnostic challenge: lethargy and weakness in an Arabian foal with cardiac murmurs. Ventricular septal defect (VSD).
Australian veterinary journal    July 11, 2006   Volume 84, Issue 6 209-212 doi: 10.1111/j.1751-0813.2006.tb12801.x
Hughes KJ.No abstract available
Polymorphism identification, RH mapping, and association analysis with the anxiety trait of the equine serotonin transporter (SLC6A4) gene.
The Journal of veterinary medical science    July 6, 2006   Volume 68, Issue 6 619-621 doi: 10.1292/jvms.68.619
Momozawa Y, Takeuchi Y, Tozaki T, Kikusui T, Hasegawa T, Raudsepp T, Chowdhary BP, Kusunose R, Mori Y.Equine anxiety trait is considered an important temperament in various situations, including riding, training, and daily care. This study examined the polymorphism of the equine serotonin transporter (SLC6A4) gene as a candidate genetic element influencing equine anxiety trait. The sequence of the coding region of this gene was highly homologous with those of other mammals, and four single nucleotide polymorphisms were found by comparing the sequences of ten genetically unrelated thoroughbred horses. Radiation hybrid mapping revealed that this gene was located 26.92 cR from neurofibromin 1 on ...
Nucleotide structure of equine platelet-derived growth factor-A and -B and expression in horses with induced acute tendinitis.
American journal of veterinary research    July 5, 2006   Volume 67, Issue 7 1218-1225 doi: 10.2460/ajvr.67.7.1218
Donnelly BP, Nixon AJ, Haupt JL, Dahlgren LA.To characterize the nucleotide sequence of equine platelet-derived growth factor (PDGF)-A and -B and analyze temporal expression of these genes in equine tendon after induced tendinitis injury. Animals-18 mature horses. Methods: Genes for equine PDGF-A and -B were reverse transcribed and sequenced from synovial tissue mRNA obtained from a 3-year-old horse. Collagenase-induced lesions were created in the tensile region of the superficial digital flexor tendon in 14 horses; 3 horses served as uninjured control animals. Tendons were harvested and total RNA was isolated from experimental horses 1,...
Evaluation of permissiveness and cytotoxic effects in equine chondrocytes, synovial cells, and stem cells in response to infection with adenovirus 5 vectors for gene delivery.
American journal of veterinary research    July 5, 2006   Volume 67, Issue 7 1145-1155 doi: 10.2460/ajvr.67.7.1145
Ishihara A, Zachos TA, Bartlett JS, Bertone AL.To evaluate host cell permissiveness and cytotoxic effects of recombinant and modified adenoviral vectors in equine chondrocytes, synovial cells, and bone marrow-derived mesenchymal stem cells (BMD-MSCs). Methods: Articular cartilage, synovium, and bone marrow from 15 adult horses. Methods: Equine chondrocytes, synovial cells, and BMD-MSCs and human carcinoma (HeLa) cells were cultured and infected with an E-1-deficient adenovirus vector encoding the beta-galactosidase gene or the green fluorescent protein gene (Ad-GFP) and with a modified E-1-deficient vector with the arg-gly-asp capsid pepti...
Clinical, cytogenetic and hormonal findings in a stallion with hypospadias–a case report.
Veterinary journal (London, England : 1997)    July 3, 2006   Volume 173, Issue 3 679-682 doi: 10.1016/j.tvjl.2006.03.005
Bleul U, Theiss F, Rütten M, Kähn W.This case report describes a three-year-old Friesian stallion with hypospadias. Physical examination revealed a ventrocaudal deviation of the shaft of the penis and an incomplete glans penis. The urethral opening was 4 cm in length, slit-like and had a mucous membrane covering. A short fold ran from the ventral aspect of the anus and ended with a non-pigmented hairless area of skin. A human choriongonadotropin (hCG)-stimulation test resulted in an increase in the plasma levels of estrogen sulfate and testosterone, indistinguishable from that of a normal stallion. The karyogram had a normal num...
Sebaceous adenitis in a 7-year-old Arabian gelding.
The Canadian veterinary journal = La revue veterinaire canadienne    July 1, 2006   Volume 47, Issue 6 583-586 
Osborne C.A 7-year-old Arabian gelding was presented with a 9-month history of progressive patches of nonpruritic scaling, crusting, alopecia, and leukoderma of the periocular areas and muzzle, becoming generalized over time. Sebaceous adenitis was diagnosed on histopathologic examination. Lesions resolved without treatment, coinciding with regression of a sarcoid on the neck. Un cheval Arabe castré âgé de 7 ans a été présenté pour une histoire de 9 mois de plaques de desquamation, de croutes, d’alopécie et de leucodermie sur les régions périoculaire et sur le nez, devenant généralisées ...
[Elevation of IFN-gamma transcription level in peripheral blood mononuclear cells of EIAV vaccinated horses]. Wang Y, Zhang XY, Wei LL, Wu DL, Wang XJ, Xiang WH, Shen RX, Shao YM.To evaluate the relationship between the transcriptional level of IFN-gamma mRNA in peripheral blood mononuclear cells (PBMC) and immune protective response driven by inoculated horses with donkey leukocyte attenuated vaccine of EIAV(DLV), and to elucidate the immune mechanism of DLV. Methods: A real-time PCR method was established for quantitative detection of IFN-gamma mRNA level from horse PBMCs. Twelve horses were divided into vaccination group, healthy control group, challenging control group and EIAV natural infection group. The transcriptional level and distribution of IFN-gamma mRNA in...
Morphological evolution and heritability estimates for some biometric traits in the Murgese horse breed.
Genetics and molecular research : GMR    June 30, 2006   Volume 5, Issue 2 309-314 
Dario C, Carnicella D, Dario M, Bufano G.A data set concerning 1,816 subjects entered in the Italian Horse Registry from 1925 to 2002 was analyzed to investigate the morphological evolution of the Murgese horse and to obtain useful elements to enhance breeding practices. Three basic body measurements (height at withers, chest girth, and cannon bone circumference) were considered for each subject. Heritabilities were calculated for each parameter to infer the growth and development traits of this breed. Over the past 20 years the Murgese horse has undergone considerable changes, passing from a typical mesomorphic structure (height at ...
von Willebrand factor A1 domain can adequately substitute for A3 domain in recruitment of flowing platelets to collagen.
Journal of thrombosis and haemostasis : JTH    June 29, 2006   Volume 4, Issue 10 2151-2161 doi: 10.1111/j.1538-7836.2006.02111.x
Bonnefoy A, Romijn RA, Vandervoort PA, VAN Rompaey I, Vermylen J, Hoylaerts MF.Binding of von Willebrand factor (VWF) to platelet GPIbalpha and to collagen is attributed to VWF A1 and A3 domains, respectively. Objective: Using VWF, VWF lacking A1 (DeltaA1-VWF) or A3 (DeltaA3-VWF) and VWF with defective A3 (H1786A-VWF), in combination with recombinant A1 (residues 1262-1492) or A3 (residues 1671-1878), fused to glutathione-S-transferase (GST-A1 and GST-A3), we have re-investigated the role of A1 in platelet recruitment to surfaces of collagen. Results: In flow, measurable binding of DeltaA3-VWF occurred to horse tendon, but also to human type III collagen. GST-A1 and GST-...
Age-related expression of molecular regulators of hypertrophy and maturation in articular cartilage.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society    June 22, 2006   Volume 24, Issue 8 1773-1781 doi: 10.1002/jor.20227
Semevolos SA, Nixon AJ, Fortier LA, Strassheim ML, Haupt J.The purpose of this study was to determine changes in the expression of regulatory molecules in normal equine articular cartilage throughout development up to 18 months of age. The hypothesis was that expression of these regulatory molecules would decrease from birth to postpubescence. Cartilage was harvested from normal femoropatellar or scapulohumeral joints from 34 fresh horse cadavers. Horses were placed in four age groups [prenatal (n = 5); prepubertal, 0-6 months (n = 11); pubertal, 7-14 months (n = 13); and postpubertal, 15-18 months (n = 5)]. Indian hedgehog (Ihh), Gli1, Gli3, Patched1...
Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses.
Veterinary clinical pathology    June 20, 2006   Volume 35, Issue 2 144-156 doi: 10.1111/j.1939-165x.2006.tb00108.x
Harvey JW.Deficiencies of enzymes involved in erythrocyte metabolism can have significant effects on erythrocyte function and survival. Animals with pyruvate kinase (PK) or phosphofructokinase (PFK) deficiencies have shortened erythrocyte life spans and regenerative anemia. PK-deficient dogs (but not PK-deficient cats) develop progressive myelofibrosis and osteosclerosis of bone marrow and hemochromatosis and cirrhosis of the liver. PFK-deficient dogs have sporadic episodes of hyperventilation-induced intravascular hemolysis and hemoglobinuria. Cytochrome b5 reductase (Cb5R) deficiency in dogs and cats ...
Insulin resistance in equids: possible role in laminitis.
The Journal of nutrition    June 15, 2006   Volume 136, Issue 7 Suppl 2094S-2098S doi: 10.1093/jn/136.7.2094S
Treiber KH, Kronfeld DS, Geor RJ.Insulin is a major regulatory hormone in glucose and fat metabolism, vascular function, inflammation, tissue remodeling, and the somatotropic axis of growth. Insulin resistance alters insulin signaling by decreasing insulin action in certain resistant pathways while increasing insulin signaling in other unaffected pathways via compensatory hyperinsulinemia. In humans, altered insulin signaling is implicated in reduced glucose availability to insulin-sensitive cells, vasoconstriction and endothelial damage, and inflammatory response. Although no direct evidence exists for insulin's role in thes...
Equine peripheral blood-derived progenitors in comparison to bone marrow-derived mesenchymal stem cells.
Stem cells (Dayton, Ohio)    June 14, 2006   Volume 24, Issue 6 1613-1619 doi: 10.1634/stemcells.2005-0264
Koerner J, Nesic D, Romero JD, Brehm W, Mainil-Varlet P, Grogan SP.Fibroblast-like cells isolated from peripheral blood of human, canine, guinea pig, and rat have been demonstrated to possess the capacity to differentiate into several mesenchymal lineages. The aim of this work was to investigate the possibility of isolating pluripotent precursor cells from equine peripheral blood and compare them with equine bone marrow-derived mesenchymal stem cells. Human mesenchymal stem cells (MSCs) were used as a control for cell multipotency assessment. Venous blood (n = 33) and bone marrow (n = 5) were obtained from adult horses. Mononuclear cells were obtained by Fico...
EIAV vector-mediated delivery of endostatin or angiostatin inhibits angiogenesis and vascular hyperpermeability in experimental CNV.
Gene therapy    June 13, 2006   Volume 13, Issue 15 1153-1165 doi: 10.1038/sj.gt.3302769
Balaggan KS, Binley K, Esapa M, MacLaren RE, Iqball S, Duran Y, Pearson RA, Kan O, Barker SE, Smith AJ, Bainbridge JW, Naylor S, Ali RR.We evaluated the efficacy of equine infectious anaemia virus (EIAV)-based lentiviral vectors encoding endostatin (EIAV.endostatin) or angiostatin (EIAV.angiostatin) in inhibiting angiogenesis and vascular hyperpermeability in the laser-induced model of choroidal neovascularisation (CNV). Equine infectious anaemia virus.endostatin, EIAV.angiostatin or control (EIAV.null) vectors were administered into the subretinal space of C57Bl/6J mice. Two weeks after laser injury CNV areas and the degree of vascular hyperpermeability were measured by image analysis of in vivo fluorescein angiograms. Compar...
Temporal detection of equine herpesvirus infections of a cohort of mares and their foals.
Veterinary microbiology    June 13, 2006   Volume 116, Issue 4 249-257 doi: 10.1016/j.vetmic.2006.05.002
Bell SA, Balasuriya UB, Gardner IA, Barry PA, Wilson WD, Ferraro GL, MacLachlan NJ.The objectives of this study were to estimate the prevalence of equine herpesviruses (EHV) 1-5 in the nasal secretions (NS) of a cohort of 12 mares and their foals from birth to 6 months of age, estimate the prevalence of EHV-1-5 infection of peripheral blood mononuclear cells (PBMC) of selected foals, and investigate phylogenetic relationships amongst the various strains of EHV-2 and 5. Virus-specific PCR assays were used to detect EHV-1-5 in NS and PBMC. A homologous portion of the glycoprotein B (gB) gene of the various strains of EHV-2 and 5 was sequenced and compared. EHV-2, 4, and 5 were...
A comparative kinetic analysis of the reactivity of plant, horse, and human respiratory cytochrome c towards cytochrome c oxidase.
Biochemical and biophysical research communications    June 12, 2006   Volume 346, Issue 3 1108-1113 doi: 10.1016/j.bbrc.2006.06.022
Rodríguez-Roldán V, García-Heredia JM, Navarro JA, Hervás M, De la Cerda B, Molina-Heredia FP, De la Rosa MA.Two synthetic genes coding for human and Arabidopsis cytochrome c, respectively, have been designed and constructed, and the recombinant proteins have been over-expressed in Escherichia coli cells. Thus a comparative analysis of the two heme proteins, including horse cytochrome c as a reference, has been performed. In addition to their physico-chemical properties, the redox behavior of the three proteins has been analyzed by following the kinetics of both their reduction by flavin semiquinones (lumiflavin, riboflavin, and FMN) and oxidation by cytochrome c oxidase. The resulting data indicate ...
Extraction and detection of mRNA from horsehair.
The Journal of veterinary medical science    June 8, 2006   Volume 68, Issue 5 503-506 doi: 10.1292/jvms.68.503
Sato T, Sato G, Shoji Y, Itou T, Sakai T.After RNA extraction from horsehair shafts and roots, the mRNAs of beta-actin, muscle-type phosphofructokinase, and transforming growth factor-beta1 were detected by reverse transcription polymerase chain reaction assay. Low amounts of RNA were present in the horsehair. These specific mRNA transcripts were readily detected when more than three hair roots were used. However, detection of the mRNA transcripts was difficult in the hair shaft. These findings indicate that the small amounts of residual RNA in horsehair roots can be utilized as samples for molecular biological analysis.
Internally controlled real-time PCR method for quantitative species-specific detection and vapA genotyping of Rhodococcus equi.
Applied and environmental microbiology    June 6, 2006   Volume 72, Issue 6 4256-4263 doi: 10.1128/AEM.02706-05
Rodríguez-Lázaro D, Lewis DA, Ocampo-Sosa AA, Fogarty U, Makrai L, Navas J, Scortti M, Hernández M, Vázquez-Boland JA.We developed a novel quantitative real-time PCR (Q-PCR) method for the soil actinomycete Rhodococcus equi, an important horse pathogen and emerging human pathogen. Species-specific quantification was achieved by targeting the chromosomal monocopy gene choE, universally conserved in R. equi. The choE Q-PCR included an internal amplification control (IAC) for identification of false negatives. A second Q-PCR targeted the virulence plasmid gene vapA, carried by most horse isolates but infrequently found in isolates from other sources. The choE-IAC and vapA assays were 100% sensitive and specific ...
Genetic analyses of the radiographic appearance of the distal sesamoid bones in Hanoverian Warmblood horses.
American journal of veterinary research    June 3, 2006   Volume 67, Issue 6 1013-1019 doi: 10.2460/ajvr.67.6.1013
Stock KF, Distl O.To evaluate whether additive genetic correlations existed between certain aspects of the radiographic appearance of the distal sesamoid (navicular) bones (RNB) or between RNB and other types of radiographic changes in the limbs of Hanoverian Warmblood horses. Methods: 5,157 horses. Methods: Quasi-linear and binary traits were defined by the appearance of canales sesamoidales (CSs) and the structure and contour of the forelimb navicular bones (NBs). Prevalences of osseous fragments in the metacarphophalangeal and metatarsophalangeal (fetlock) and tarsocrural joints and deforming arthropathy in ...
Production of horse foals via direct injection of roscovitine-treated donor cells and activation by injection of sperm extract.
Reproduction (Cambridge, England)    June 1, 2006   Volume 131, Issue 6 1063-1072 doi: 10.1530/rep.1.01095
Hinrichs K, Choi YH, Love CC, Chung YG, Varner DD.We evaluated the effects of different donor cell treatments and activation methods on production of blastocysts after equine nuclear transfer. Nuclear transfer was performed by direct injection of donor cells, using a piezo drill, and standard activation was by injection of sperm factor followed by culture with 6-dimethylaminopurine. There was no difference in blastocyst development between embryos produced with roscovitine-treated or confluent donor cells (3.6% for either treatment). Addition of injection of roscovitine or culture with cycloheximide at the time of activation did not affect bl...
No borna disease virus-specific RNA detected in blood of race horses and jockeys.
Acta neuropsychiatrica    June 1, 2006   Volume 18, Issue 3-4 177-180 doi: 10.1111/j.1601-5215.2006.00118.x
Kim YK, Noh KB, Han CS, Moon JY, Yoon DK, Song KJ, Kim DJ, Kubera M, Maes M, Song JW.Borna disease virus (BDV) predominantly infects horses and sheep, causing a broad range of behavioural disorders. It is controversial whether BDV infects humans and causes psychiatric disorders. Objective: We searched for BDV-derived nucleic acids in blood of race horses and jockeys riding the horses. Methods: We assayed for the BDV genome in RNA extracted from peripheral blood mononuclear cells (PBMC) of 39 race horses and 48 jockeys. Two polymerase chain reaction protocols [one-tube reverse transcription-polymerase chain reaction (RT-PCR) and two-step RT-PCR] were used to assay BDV p24 and p...
Chromosomal assignments for the equine AMPK family genes.
Animal genetics    June 1, 2006   Volume 37, Issue 3 293-294 doi: 10.1111/j.1365-2052.2006.01431.x
Dranchak PK, Ekenstedt KJ, Valberg SJ, Chowdhary BP, Raudsepp T, Mickelson JR.No abstract available
Horse microsatellites and their amenability to comparative equid genetics.
Animal genetics    June 1, 2006   Volume 37, Issue 3 258-261 doi: 10.1111/j.1365-2052.2006.01422.x
Moodley Y, Baumgarten I, Harley EH.We investigated the applicability of microsatellite primers, designed in horses, for use in plains and mountain zebras. Fifteen of the 20 tested horse-isolated primer pairs reliably amplified polymorphic loci in two wild equid species. We used this information to assess whether levels of genetic variation and repeat size differed in species from which microsatellites were isolated and in closely related target species. Target equid species exhibited similar levels of genetic variation to the horse, the species from which primers were originally isolated. We show that ascertainment bias results...
Summer eczema in exported Icelandic horses: influence of environmental and genetic factors.
Acta veterinaria Scandinavica    May 26, 2006   Volume 48, Issue 1 3 doi: 10.1186/1751-0147-48-3
Björnsdóttir S, Sigvaldadóttir J, Broström H, Langvad B, Sigurdsson A.A cross sectional study was designed to estimate the prevalence of summer eczema (a chronic, recurrent seasonal dermatitis) in exported Icelandic horses and the influence of environmental and genetic factors on the development of the disease. Among 330 horses, which had been exported to Germany, Denmark and Sweden, 114 (34.5%) were found to have clinical signs of summer eczema. The prevalence was highest 2 years after export and the exposure to the biting midges Culicoides spp., was found to be the main risk factor for developing the disease. Genetic influence on the sensitivity for the diseas...