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.
Van Grevenhof EM, Ducro BJ, Van Weeren PR, Van Tartwijk JM, Van den Belt AJ, Bijma P.Osteochondrosis (OC) is the most important orthopaedic developmental disorder in horses and may manifest in several different forms. No detailed study on the prevalence and/or interrelation of these forms is available, even though these data are a prerequisite for conclusive genetic studies. Objective: To assess the prevalence of the various manifestations of OC as detected radiographically and to evaluate possible relationships between their occurrence within the same joint and between different joints. Methods: The FP (femoropatellar), TC (tarsocrural) and MCP/MTP (metacarpophalangeal/metata...
Morrell JM, Dalin AM, Rodriguez-Martinez H.A new, simpler, technique of colloidal centrifugation has recently been developed, designated single layer centrifugation (SLC). This technique requires evaluation by comparison with a density gradient for its ability to select the best quality spermatozoa and its practicality of use on studfarms. Objective: To compare the effect of 2 methods of colloidal centrifugation, density gradient centrifugation and single layer centrifugation, on stallion sperm motility, yield and survival, using freshly collected extended stallion semen. Methods: Aliquots of extended stallion semen from 10 stallions (...
Lampe V, Dierks C, Distl O.In this report, we provide 29 new informative microsatellites distributed over a region of 21 Mb on horse chromosome (ECA) 5 and refine a quantitative trait locus (QTL) for fetlock osteochondrosis dissecans (OCD) to a genome-wide significant interval between 78.03 and 90.23 Mb on ECA5. Genotyping was performed in 211 Hanoverian warmblood horses from 14 paternal half-sib groups. Within this OCD-QTL, collagen type XXIV alpha 1 was identified as a potential functional candidate gene for equine osteochondrosis. This report is a further step towards unravelling the genes that cause equine osteochon...
The Journal of heredityMarch 20, 2009
Volume 100, Issue 4 481-486 doi: 10.1093/jhered/esp006
Wittwer C, Hamann H, Distl O.A whole-genome scan for radiological signs of osteochondrosis (OC) and osteochondrosis dissecans (OCD) in South German Coldblood (SGC) horses using 250 microsatellite markers identified a genome-wide significant quantitative trait locus (QTL) for fetlock OCD and a chromosome-wide QTL for hock OC on Equus caballus chromosome (ECA) 18 at a relative position of 45.9-78.2 cM. The aim of this study was to analyze associations of single-nucleotide polymorphisms (SNPs) in candidate genes for OC in this QTL region using 96 SGC horses. The OC-QTL on ECA18 could be confirmed and narrowed down to an inte...
Mérant C, Breathnach CC, Kohler K, Rashid C, Van Meter P, Horohov DW.Newborn foals are very susceptible to infections by opportunistic pathogens such as Rhodococcus equi. This susceptibility is thought to be due to the immaturity of their immune system, in particular their inability to produce interferon-gamma. This deficiency may result from an insufficiency in accessory signals. We therefore compared monocyte-derived dendritic cells (MoDC) from foals and from adult horses. CD172, MHC-I and MHC-II were generally expressed on more than 90% MoDC from foals and adults. CD1w2(+)CD86(+) cells tended to be less represented in 2-3-week-old foals than in adults. This ...
Bryant NA, Rash AS, Russell CA, Ross J, Cooke A, Bowman S, MacRae S, Lewis NS, Paillot R, Zanoni R, Meier H, Griffiths LA, Daly JM, Tiwari A....Equine influenza virus (EIV) surveillance is important in the management of equine influenza. It provides data on circulating and newly emerging strains for vaccine strain selection. To this end, antigenic characterisation by haemaggluttination inhibition (HI) assay and phylogenetic analysis was carried out on 28 EIV strains isolated in North America and Europe during 2006 and 2007. In the UK, 20 viruses were isolated from 28 nasopharyngeal swabs that tested positive by enzyme-linked immunosorbent assay. All except two of the UK viruses were characterised as members of the Florida sublineage w...
Zeman P, Jahn P.Anaplasma phagocytophilum is a tick-borne rickettsial pathogen that has measurable genetic heterogeneity across its geographical range and reservoir spectrum. In the present study, publicly available sequences of the genes that have prevailingly been used for typing A. phagocytophilum were analysed to identify the segments giving the highest resolution with respect to the predictability of host and geographical provenances of the strains. Selected partial sequences of 16S rRNA, groL, msp4 and ank genes were then employed in a tentative multilocus typing scheme used to characterize the strains ...
Bai Y, Tong T, Liu G, Chen W, Zhang W, Wang Q, Yang T, Bu Z, Wu D.Interferon gamma (IFN-gamma) is a pleiotropic cytokine that is recognized as an important modulator of the immune response. To date, there is no report that prokaryocyte-derived recombinant equine IFN-gamma has antiviral activity. In this report, the gene coding equine IFN-gamma (EIFN-gamma) mature protein was cloned into pET-28a (+) and the recombinant EIFN-gamma was expressed in Escherichia coli (E. coli). The antiviral activity of expressed recombinant EIFN-gamma was evaluated by using a recombinant Vesicular Stomatitis Virus expressing green fluorescence protein (rVSV-GFP) system in the eq...
Nieto JE, Aleman M.Anesthetic-induced malignant hyperthermia has been documented in Quarter Horses and is caused by a single-point mutation in the ryanodine receptor 1 gene at nucleotide C7360G generating a R2454G amino acid substitution. An accurate, faster molecular test that is less prone to contamination would facilitate screening for the mutation in horses intended for breeding, in those undergoing surgical procedures, and in those with clinical signs compatible with malignant hyperthermia. Objective: To report a rapid and accurate method for the detection of the ryanodine receptor 1 C7360G mutation. Method...
Johnson R, Ramos-Vara J, Vemulapalli R.This report describes the characterization of a Bartonella henselae abortion in an equine fetus by gross, histologic, immunohistochemical, ultrastructural, and molecular methods. Bartonella henselae can cause cat scratch disease, bacillary angiomatosis, bacillary peliosis, and endocarditis in humans and other animals. The bacterium has been isolated from several mammalian species but only recently from equids; however, it has not been linked to abortion in equids. An aborted equine fetus exhibited necrosis and vasculitis in multiple tissues, with intralesional Gram-negative short-to-spirillar ...
Li LF, Guan WJ, Hua Y, Bai XJ, Ma YH.A fibroblast line was successfully established from Mongolian horse ear marginal tissue by using a primary explant technique and cell cryogenic preservation technology. Biological analysis showed the following: The cells were adherent and exhibited density-dependent inhibition of proliferation; assays of microbial contamination from bacteria, fungi, and mycoplasma were negative; the population doubling time of the cells was 33.9 h; and a 2n chromosome number of 64 at a frequency higher than 80%. A lack of cross-contamination of this cell line with other species was confirmed by isoenzyme analy...
Grange S, Duncan P, Gaillard JM.We investigated density dependence on the demographic parameters of a population of Camargue horses (Equus caballus), individually monitored and unmanaged for eight years. We also analysed the contributions of individual demographic parameters to changes in the population growth rates. The decrease in resources caused a loss of body condition. Adult male survival was not affected, but the survival of foals and adult females decreased with increasing density. Prime-aged females maintained high reproductive performance at high density, and their survival decreased. The higher survival of adult m...
Kamalov AA, Gukhikh GT, Kirpatovskiĭ VI, Zaraĭskiĭ EI, Poltavtseva RA, Plotnikov EIu, Kudriavtsev IuV, Efremov EA, Obokhotov DA.The study of cell cultures enriched with stem and progenitor cells in the treatment of experimental hypergonadotropic hypogonadism was made on 30 white non-inbred rats with experimental cryptorchism who have undergone xenotransplantation of human fetal enriched cell cultures. Spermatogenic epithelium on histological sections was studied on day 14 and 28 after xenotransplantation with calculation of the spermatogenesis index. The fertility index was estimated for each of the groups. Transplantation of enriched cell cultures enhances efficacy of restoration of adequate germinogenic and spermatog...
DiMaio Knych HK, DeStefano Shields C, Buckpitt AR, Stanley SD.Substantial gaps exist in our knowledge of the metabolic clearance of therapeutic agents in horses. Accordingly, a cytochrome P450 monooxygenase in the 2C family was cloned from an equine liver, sequenced and expressed in a baculovirus expression system. Catalytic activities of the recombinant protein were measured with a number of substrates. The protein, assigned CYP2C92, displayed optimal catalytic activity with diclofenac using molar ratios of CYP2C92 to NADPH CYP450 reductase of 1:18. Addition of cytochrome b(5) to diclofenac incubations had no significant effect on metabolic turnover. CY...
García-Rubio I, Fittipaldi M, Trandafir F, Van Doorslaer S.In this work, we show the extreme power of multifrequency HYSCORE (hyperfine sublevel correlation spectroscopy) techniques to unravel the hyperfine interactions of the electron spin with the remote nuclei in the heme site of high-spin ferric heme proteins. Horse heart aquo-metmyoglobin was used as a model system to demonstrate the power of these techniques. Experimental evidence was collected and assigned to protons of the proximal histidine ligand, to the mesoprotons of the heme ligand, and to two different protons of the distal water ligand. The latter difference relates to the stabilization...
Wang XF, Jiang CG, Guo W, Xiang W, Lv XL, Zhao LP, Wang FL, Kong XG, Zhang XY, Shao YM, Zhou JH.The donkey leukocyte-attenuated vaccine of equine infectious anemia virus (EIAV) was the first lentiviral vaccine that induced solid protection from the infection of virulent strains. To elucidate the mechanism of increased immunogenicity and attenuated virulence of the vaccine, the proviral genomic DNA of an EIAV vaccine strain, EIAV(DLV121) was analyzed and compared with the genome of a parental virulent strain EIAV(DV117). Full length viral genomic DNAs were amplified as two segments by LA-PCR and were cloned. Because of the genomic diversity of retroviral quasispecies, 10 full-length seque...
Caillaud M, Gérard N.We analysed the effect of interleukin-1 on oocyte maturation and on steroid and prostaglandin production by equine granulosa and cumulus cells. In Experiment 1, interleukin-1beta (IL-1beta) was injected into the growing dominant follicle, which was punctured 38 h later. Follicular fluid was assayed for steroids and prostaglandin-F2alpha (PGF2alpha). Granulosa cells were analysed for 3beta-hydroxysteroid dehydrogenase (3beta-HSD), progesterone receptor (PR), cyclooxygenase 1 and 2 (Cox 1 and Cox 2) and steroidogenic acute regulatory protein (StAR) mRNAs. In Experiment 2, cumulus-oocyte complexe...
van Grevenhof EM, Schurink A, Ducro BJ, van Weeren PR, van Tartwijk JM, Bijma P, van Arendonk JA.Osteochondrosis (OC) is an important orthopedic developmental disorder in many horse populations. A review of the literature revealed widely variable heritability estimates for the disorder. We estimated the genetic variables (heritabilities and genetic correlations) of various manifestations of OC. Femoropatellar, tarsocrural, and metacarpophalangeal and metatarsophalangeal joints of 811 randomly selected yearlings from the Royal Warmblood Studbook of The Netherlands, descending from 32 representative stallions, were scored for OC at 28 predilection sites. At each site, OC was scored in 5 cat...
Aleman M, Nieto JE, Magdesian KG.Anesthetic-induced malignant hyperthermia (MH) has been documented in Quarter Horses with a single point mutation in the ryanodine receptor 1 gene (RyR1) at nucleotide C7360G, generating a R2454G amino acid substitution. However, there have been no reports of nonanesthetic manifestations of MH in horses with the C7360G mutation. Objective: To describe clinical manifestations of Quarter Horses with the C7360G mutation. Methods: Eleven Quarter Horses with the RyR1 C7360G mutation. Methods: This prospective study included horses with suspected MH, undetermined etiology of sudden death, death with...
Giesecke K, Hamann H, Stock KF, Woehlke A, Sieme H, Distl O.Stallion fertility is an economically important trait because the use of artificial insemination is increasing in the horse industry and superior sires are used more intensely. Molecular genetic markers may be useful as early indicators for a stallion's fertility and genetic improvement programmes. The testis-specific SPATA1 protein is involved in shaping the sperm head during spermatogenesis. Thus, the spermatogenesis associated 1 (SPATA1) gene was chosen as candidate for stallion fertility, and we analysed intragenic single nucleotide polymorphisms (SNPs) as genetic markers for the least squ...
Lindsay AM, Zhang M, Mitchell Z, Holden MTG, Waller AS, Sutcliffe IC, Black GW.Streptococcus equi causes equine 'strangles'. Hyaluronate lyases, which degrade connective tissue hyaluronan and chondroitins, are thought to facilitate streptococcal invasion of the host. However, prophage-encoded hyaluronate lyases are hyaluronan-specific and are thought to be primarily involved in the degradation of the hyaluronan capsule of streptococci during bacteriophage infection. To understand the role of prophage-encoded hyaluronate lyases further, we have biochemically characterized such a hyaluronate lyase, SEQ2045 from S. equi, and have shown that it is produced during equine infe...
Monego F, Maboni F, Krewer C, Vargas A, Costa M, Loreto E.This study evaluated the molecular characteristics of Rhodococcus equi isolates obtained from horses by a multiplex PCR assay that amplifies the vap gene family (vapA, -B, -C, -D, -E, -F, -G, and -H). A total of 180 R. equi isolates were studied from four different sources, namely healthy horse feces (112), soil (12), stalls (23), and clinical isolates (33) from horse-breeding farms. The technique was performed and confirmed by sequencing of amplified vap gene family controls. Thirty-two (17.8%) of the R. equi isolates were positive for the vapA gene and carried at least three other vap genes....
Hepperger C, Mayer A, Merz J, Vanderwall DK, Dietzel S.Whether chromosome sets inherited from father and mother occupy separate spaces in the cell nucleus is a question first asked over 110 years ago. Recently, the nuclear organization of the genome has come increasingly into focus as an important level of epigenetic regulation. In this context, it is indispensable to know whether or not parental genomes are spatially separated. Genome separation had been demonstrated for plant hybrids and for the early mammalian embryo. Conclusive studies for somatic mammalian cell nuclei are lacking because homologous chromosomes from the two parents cannot be d...
Barquero N, Chanter N, Laxton R, Wood JL, Newton JR.The objective of this study was to characterise the molecular epidemiology of Streptococcus zooepidemicus isolated from the respiratory tracts of 198 Thoroughbred racehorses based at three Newmarket training yards over a 10 month period. Typing utilised two separate PCR procedures targeting the M-like protein hypervariable and the 16S-23S RNA gene intergenic spacer regions of the bacterium. S. zooepidemicus, isolated from 23% (224/983) of study samples, comprised 24 different types of varying prevalence. The four most common types, A1HV4, A1HV2, C1HVu and D1HV1, accounted for 45% of all the ty...
Zhang YW, Davis EG, Bai J.Quantitative reverse transcription polymerase chain reaction (RT-PCR) has become a basic, reliable and sensitive modern technique, in both biological research and clinical diagnosis, for investigation of gene expression and validation of cDNA microarray analysis. Accurate mRNA quantification using quantitative RT-PCR commonly requires data normalization through stable housekeeping genes (HKGs). Selection of HKGs for data normalization is critical for accurate mRNA quantification. Our objective was to evaluate a set of candidate HKGs as internal controls for gene expression studies using quanti...
Marino E, Threlfall WR, Schwarze RA.The ECF lateral flow assay test is marketed to detect non-pregnancy in mares. The objectives of the present study were to determine the accuracy of the ECF test, the accuracy of the electronic reader accompanying the ECF test, and agreement between two human readers and the electronic reader. Serum samples were collected from anestrus, cycling but not inseminated, and inseminated mares, and were evaluated with the ECF test (EDP Biotech Company, Knoxville, TN, USA) at The Ohio State University and at the EDP Biotech Laboratory. Specificity ranged from 0.07 to 0.16, the negative predictive value...
Zhu D, Zeng ZL, Peng D, Chen X, Zhao LB, Zhang YY, Xu MM, Zhan QL, Yu JP, Xie P.To investigate the epidemiological pattern of Borna disease virus (BDV) infection in horses and to analyze the phylogenetic tree of derived BDV in Yili, Xinjiang. Methods: We established a modified nested RT-PCR (nRT-PCR) to detect BDV p24 segment in peripheral blood mononuclear cells (PBMCs) and brain tissues of 120 horses in Yili, Xinjiang. Positive products were analyzed by sequencing and homology analysis. Results: The positive rate of BDV infection was 2.5% in both PMBCs and brain tissues at the same time. The gene sequence revealed in positive PCR samples was more than 93%, identical to ...
Hahn CN, Matiasek K, Dixon PM, Molony V, Rodenacker K, Mayhew IG.Recurrent laryngeal neuropathy (RLN) is a common and debilitating peripheral nerve disease of horses, but it remains unclear if this disease is a mono- or polyneuropathy. An understanding of the distribution of the neuropathological lesions in RLN affected horses is fundamental to studying the aetiology of this very significant disease of tall horses. Objective: To determine whether RLN should be classified as a mono- or polyneuropathy. Methods: Multiple long peripheral nerves and their innervated muscles were examined systematically in 3 clinically affected RLN horses Results: Severe lesions ...
Bugno-Poniewierska M, Jabłońska Z, Słota E.Fluorescence in situ hybridization (FISH) is widely used in the study of chromosome structure and organization. Cytogenetic evaluation of chromosomes using FISH technique plays an increasingly important role in diagnosing karyotype changes in both somatic and reproductive cells. The aim of the study was to optimize the conditions of stallion sperm decondensation, which have a significant effect on the results of fluorescence in situ hybridization. Appropriate type and time of decondensation was chosen for the sperm of every stallion. It was found that decondensation performed using a preparati...
Li QC, Mabrouk PA.This paper reports the first report of rapid, reversible direct electron transfer between a redox protein, specifically, horse myoglobin, and a solid electrode substrate in nonaqueous media and the spectroscopic (UV-vis, fluorescence, and resonance Raman) characterization of the relevant redox forms of myoglobin (Mb) in dimethyl sulfoxide (DMSO). In DMSO, the heme active site of metmyoglobin (metMb) appears to remain six-coordinate high-spin, binding water weakly. Changes in the UV-fluorescence spectra for metMb in DMSO indicate that the protein secondary structure has been perturbed and sugge...
Roser JF, McCue PM, Hoye E.An overnight double antibody RIA, employing a rabbit antiserum raised to bovine 31 kDa inhibin (rAs-#1989, NICHD) and purified bovine 31 kDa inhibin (bINH-I-90/1, NICHD) as trace and standard, was validated to measure immunoreactive inhibin (iINH) concentrations in equine peripheral plasma, follicular fluid (FF), ovarian vein (OV) plasma, testicular tissue extracts (TTE) and testicular vein (TV) plasma. The dynamic relationship of iINH and follicle stimulating hormone (FSH) was investigated during the estrous cycle of the mare and the annual reproductive cycle of the stallion. In the RIA, para...
Wodas L, Mackowski M, Borowska A, Puppel K, Kuczynska B, Cieslak J.β-lactoglobulin is one of the most abundant milk whey proteins in many mammal species, including the domestic horse. The aim of this study was to screen for polymorphism in the equine LGB1 and LGB2 gene sequences (all exons, introns, and 5'-flanking region) and to assess potential relationship of particular genotypes with gene expression levels (measured in milk somatic cells) and milk composition traits (protein, fat, lactose, and total β-lactoglobulin content). Direct DNA sequencing analysis was performed for twelve horse breeds: Polish Primitive Horse (PPH), Polish Coldblood Horse (PCH), ...
Tazumi A, Maeda Y, Buckley T, Millar B, Goldsmith C, Dooley J, Elborn J, Matsuda M, Moore J.Clinical isolates (n = 63) of Pseudomonas aeruginosa obtained from various sites in 63 horses were compared using ERIC2 RAPD PCR to determine their genetic relatedness. Resulting banding patterns (n = 24 genotypes) showed a high degree of genetic heterogeneity amongst all isolates examined, indicating a relative non-clonal relationship between isolates from these patients, employing this genotyping technique. This study characterised 63 clinical isolates into 24 distinct genotypes, with the largest cluster (genotype E) accounting for 10/63 (15.9%) of the isolates. ERIC2 RAPD PCR proved to be a...
Stewart F, Power CA, Lennard SN, Allen WR, Amet L, Edwards RM.The PCR technique and highly degenerate oligonucleotide primers were used to amplify a 282 bp fragment of the horse (Equus caballus) epidermal growth factor (EGF) cDNA. The clone corresponded to 94 amino acids of the EGF precursor molecule. The deduced amino acid sequence of the 53 residue EGF mitogenic peptide within the precursor sequence showed 60-70% identity with five other published EGF sequences. The PCR cDNA fragment hybridized to a 4.9 kb transcript in horse kidney and endometrial RNA which was of a similar size to the mature EGF transcript found in other mammalian species. The horse ...
Gardner AK, Kelly CS, van Eps AW, Burns TA, Watts MR, Belknap JK.In sepsis models, mitogen-activated protein kinases (MAPKs) are reported to incite inflammatory injury to tissues and are purported to be a therapeutic target. Objective: To assess MAPK signalling in lamellae in sepsis-related laminitis (SRL) at different time points after induction of laminitis via carbohydrate overload, and to determine the effect of regional deep hypothermia (RDH) on MAPK signalling. Methods: In vitro study using archived tissue samples. Methods: Lamellar concentrations of MAPKs were assessed in archived lamellar samples from 2 studies: 1) the starch gruel model of SRL with...
Flaminio MJ, Yen A, Antczak DF.Observations in early equine pregnancy clearly reveal maternal immune recognition of and response to the presence of the conceptus. Nevertheless, both maternal cellular and humoral responses appear ineffective in destroying the developing placenta and fetus in early pregnancy. Our previous studies had shown that the pre-conditioned medium generated from the culture of equine invasive trophoblast inhibited mitogen-induced lymphocyte proliferation and the expression of cytokine messenger RNA in vitro. Those findings also suggested that lymphocytes might have been halted in the G0/G1 phase of the...
Shields E, Seiden-Long I, Massie S, Passante S, Leguillette R.Cardiac troponin-I assays have been validated in horses.'High-sensitivity' cardiac troponin assays are now the standard in human cardiology. Objective: Appropriately validate the'high-sensitivity' cardiac Troponin-T (hscTnT) assay for clinical use in horses, establish reference intervals, determine the biological variation, and demonstrate assay utility in selected clinical cases. Methods: Analytical validation of the Roche hscTnT assay included within- and between-run precision, linear dose response, limit of quantitation (LoQ), stability, and comparison with cTn-I (iSTAT). Reference interval...
Matsui T, Sugino H, Miura M, Bousfield GR, Ward DN, Titani K, Mizuochi T.The glycoprotein hormones, equine chorionic gonadotropin (eCG) and lutenizing hormone (eLH), possess a beta-subunit with an identical amino acid sequence. The Asn-linked oligosaccharide chains of eCG beta and eLH beta were quantitatively liberated as tritium-labeled oligosaccharides by hydrazinolysis followed by N-acetylation and NaB3H4-reduction. Paper electrophoresis in combination with sialidase digestion and solvolytic desulfation indicated that eCG beta contained neutral and sialylated oligosaccharides, while eLH beta contained neutral, sialylated, sulfated, and both sialylated and sulfat...
White KS, Fuji RN, Valentine BA, Bildfell RJ.Abstract Congenital cutaneous papillomas were identified in five foals. Age at diagnosis ranged from 305 days' gestation to 2 days of age. Breeds were thoroughbred (2), standard-bred (1), warmblood (1) and paint (1). Two were female, one was male and the gender of two cases was not specified. Masses were pedunculated with a roughened, wart-like (verrucous) or a smoother, cauliflower-like surface. Masses occurred as single lesions on the forelimb, lip and face, or as multiple lesions on the trunk. Histological features included relatively uniform epidermal papillary hyperplasia with variable me...
Reed SM, Hegreberg GA, Bayly WM, Brown CM, Paradis MR, Clemmons RM.A severe and progressive neuromuscular disorder accompanied by clinical, electrophysiological, and pathological features resembling human dystrophia myotonica was observed in three foals. This disorder was apparent as early as 1 month of age and involved progressive skeletal muscle dysfunction, initially characterized by proximal muscle hypertrophy and hypertonicity with subsequent muscle stiffness, weakness, and atrophy. Multisystem involvement was manifested in one case by testicular hypoplasia, early cataract formation, and borderline glucose intolerance. Prolonged dimpling of these large r...
Reich P, Falker-Gieske C, Pook T, Tetens J.Genotype imputation is a cost-effective method to generate sequence-level genotypes for a large number of animals. Its application can improve the power of genomic studies, provided that the accuracy of imputation is sufficiently high. The purpose of this study was to develop an optimal strategy for genotype imputation from genotyping array data to sequence level in German warmblood horses, and to investigate the effect of different factors on the accuracy of imputation. Publicly available whole-genome sequence data from 317 horses of 46 breeds was used to conduct the analyses. Results: Depend...
Wilmink JM, Nederbragt H, van Weeren PR, Stolk PW, Barneveld A.The contribution of wound contraction to wound closure determines the speed of second intention wound healing and it has been shown that significant differences exist with regard to both contraction and inflammatory response between horses and ponies and between various areas of the body. In this study, the contraction capacity of fibroblasts from limbs and buttocks of 4 Dutch Warmblood horses and 4 Shetland ponies was studied in vitro, in order to determine whether differences in wound contraction are due to differences in the inherent contraction capacity of the fibroblasts or to differences...
Schrenzel MD, Watson JL, Ferrick DA.Genes encoding the horse (Equus caballus) T-cell receptor beta chain (TCRB) were cloned and characterized. Of 33 cDNA clones isolated from the mesenteric lymph node, 30 had functionally rearranged gene segments, and three contained germline sequences. Sixteen unique variable segments (TCRBV), 14 joining genes (TCRBJ), and two constant region genes (TCRBC) were identified. Horse TCRBV were grouped into nine families based on similarity to human sequences. TCRBV2 and TCRBV12 were the most commonly represented horse families. Analysis of predicted protein structure revealed the presence of conser...
Zhang N, Ding S, Kolbanovskiy A, Shastry A, Kuzmin VA, Bolton JL, Patel DJ, Broyde S, Geacintov NE.The equine estrogens equilin (EQ) and equilenin (EN) are the active components in the widely prescribed hormone replacement therapy formulation Premarin. Metabolic activation of EQ and EN generates the catechol 4-hydroxyequilenin (4-OHEN) that autoxidizes to the reactive o-quinone form in aerated aqueous solutions. The o-quinones react predominantly with C, and to a lesser extent with A and G, to form premutagenic cyclic covalent DNA adducts in vitro and in vivo. To obtain insights into the structural properties of these biologically important DNA lesions, we have synthesized site-specifically...
Ammer H, Henschen A.The major stallion protamine was isolated from sperm cell nuclei by extraction with 6M guanidine/5% mercaptoethanol, alkylation with 4-vinylpyridine and subsequent reversed-phase high-performance liquid chromatography. The primary structure of stallion protamine was determined by N-terminal sequencing of the intact protein and of the fragments obtained from thermolysin cleavage of the S-pyridylethylated and from endoproteinase Lys-C cleavage of the S-aminoethylated protein. Stallion protamine consists of 49 amino-acid residues and shows 49% identity with all other sequenced mammalian type 1 pr...
Liu X, Seguin-Orlando A, Chauvey L, Tressières G, Schiavinato S, Tonasso-Calvière L, Aury JM, Perdereau A, Wagner S, Clavel P, Estrada O, Pan J....Age profiling of archaeological bone assemblages can inform on past animal management practices, but is limited by the fragmentary nature of the fossil record and the lack of universal skeletal markers for age. DNA methylation clocks offer new, albeit challenging, alternatives for estimating the age-at-death of ancient individuals. Here, we take advantage of the availability of a DNA methylation clock based on 31,836 CpG sites and dental age markers in horses to assess age predictions in 84 ancient remains. We evaluate our approach using whole-genome sequencing data and develop a capture assay...
Santos WB, Pereira CB, Maiorano AM, Arce CDS, Baldassini WA, Pereira GL, Chardulo LAL, Neto ORM, Oliveira HN, Curi RA.With the advent of genomics, significant progress has been made in the genetic improvement of livestock species, particularly through increased accuracy in predicting breeding values for selecting superior animals and the possibility of performing a high-resolution genetic scan throughout the genome of an individual. The main objectives of this study were to estimate the individual genomic inbreeding coefficient based on runs of homozygosity (F ), to identify and characterize runs of homozygosity and heterozygosity (ROH and ROHet, respectively; length and distribution) throughout the genome, a...
Goyache F, Alvarez I, Fernández I, Pérez-Pardal L, Royo LJ, Lorenzo L.Empirical evidence of the usefulness of different molecular-based methods to estimate the effective population size (N(e)) for conservation purposes in endangered livestock populations is reported. The black-coated Asturcón pony pedigree (1,981 individuals) was available. Additionally, a total of 267 Asturcón individuals born in 1998, 2002, and 2008 were typed for 15 microsatellites. These yearly cohorts (cohort(1998, 2002, 2008)) included almost all individuals kept for reproduction at the end of the corresponding foaling season. The genealogical realized N(e) was estimated for each cohort ...
Long MT, Mines MT, Knowles DP, Tanhauser SM, Dame JB, Cutler TJ, MacKay RJ, Sellon DC.Sarcocystis neurona was isolated from the blood of a 5-month-old Arabian foal with severe combined immunodeficiency. The foal had been inoculated approximately 3 weeks previously with 5 x 10(5) sporocysts that were isolated from the intestines of an opossum and identified by restriction enzyme analysis of PCR products as S. neurona. The isolate obtained from the blood of this foal was characterized by genetic, serologic, and morphologic methods and identified as S. neurona (WSU1). This represents the first time that S. neurona has been isolated from any tissue after experimental infection of a...
Walewska E, Wołodko K, Skarzynski D, Ferreira-Dias G, Galvão A.The regulation of corpus luteus (CL) luteolysis is a complex process involving a myriad of factors. Previously, we have shown the involvement of Nodal in functional luteolysis in mares. Presently, we ask the extent of which Nodal mediation of luteolysis is done through regulation of angioregression. We demonstrated the interaction between Nodal and hypoxia-inducible factor 1 α (HIF1α) and thrombospondin 1/thrombospondin receptor (TSP1/CD36) systems, could mediate angioregression during luteolysis. First, we demonstrated the inhibitory effect of Nodal on the vascular marker platelet/endotheli...
Giacomoni EH, Fernández-Stolz GP, Freitas TR.The genetic variability for a sample of 227 animals from three populations of Pantaneiro horses was estimated using data from 10 microsatellite loci. The number of alleles and the proportion of heterozygosity indicated high variability. A total of 91 alleles were found, with a significantly high mean number of alleles. The mean polymorphic information content was 0.7 and the paternity exclusion probability was 99.3%. The inbreeding coefficient (F(IS)) was low for the three populations: Ipiranga (F(IS) = 0.147), Nova Esperança (F(IS) = 0.094) and Promissão (F(IS) = 0.108). Genetic differentia...
Cothran EG, Canelon JL, Luis C, Conant E, Juras R.Various horse populations in the Americas have an origin in Spain; they are remnants of the first livestock introduced to the continent early in the colonial period (16th and 17th centuries). We evaluated genetic variability within the Venezuelan Criollo horse and its relationship with other horse breeds. We observed high levels of genetic diversity within the Criollo breed. Significant population differentiation was observed between all South American breeds. The Venezuelan Criollo horse showed high levels of genetic diversity, and from a conservation standpoint, there is no immediate danger ...
Lyskova P, Hubka V, Petricakova A, Dobias R, Cmokova A, Kolarik M.Trichophyton bullosum is a zoophilic dermatophyte from the Arthroderma benhamiae complex with a poorly known distribution. In this study, we report a case of dermatophytosis caused by T. bullosum in a 6-year-old male horse who had a skin lesion located in a saddle area. The infection spread rapidly to the upper chest and to both sides of the trunk. The dermatophyte was isolated in culture and identified by sequence analysis of the internal transcribed spacer regions (ITS rDNA). To date, this is the first verified case of animal infection due to T. bullosum in Europe following the 2012 report o...
Gibson C, de Ruijter-Villani M, Stout TAE.In many species, the insulin-like growth factors (IGF1 and IGF2), their receptors and IGF binding proteins play important roles in preparing the endometrium for implantation, and regulating conceptus growth and development. To determine whether the IGF system may contribute to conceptus-maternal interaction during equine pre-implantation development, we evaluated mRNA expression for IGF system components in conceptuses, and endometrium recovered from pregnant and cycling mares, on days 7, 14, 21 and 28 after ovulation. We also investigated expression of IGF1, IGF2 and their receptors 6 and 11 ...
De Lorenzi L, Genualdo V, Iannuzzi A, Di Meo GP, Perucatti A, Mancuso R, Russo M, Di Berardino D, Parma P, Iannuzzi L.A 4-year-old male horse of Friesian breed with normal body conformation, development and libido, and showing an evident ventral penis deviation with hypospadias, underwent both cytogenetic and genetic investigation. Although the karyotype showed normal male arrangement (2n = 64,XY), one telomere of horse (ECA) chromosome 1 was shorter than both the other one and those of a normal horse (control), as revealed by CBA- and RBA-banding, and by Ag-NOR and FISH-mapping techniques using telomere PNA probes. Genetic investigation of the SRY and MAMLD1 coding sequences revealed a normal SRY sequence an...
Yousefi-Mashouf N, Mehrabani-Yeganeh H, Nejati-Javaremi A, Bailey E, Petersen JL.The present research aimed to characterize the Persian Kurdish horse population relative to the Persian Arabian and American Thoroughbred populations using genome-wide SNP data. Fifty-eight Kurdish, 38 Persian Arabian and 83 Thoroughbred horses were genotyped across 670,796 markers. After quality control and pruning to eliminate linkage disequilibrium between loci which resulted in 13,554 SNPs in 52 Kurdish, 24 Persian Arabian and 58 Thoroughbred horses, the Kurdish horses were generally distinguished from the Persian Arabian samples by Principal Component Analyses, cluster analyses and calcul...
Elashry MI, Baulig N, Heimann M, Bernhardt C, Wenisch S, Arnhold S.Adipose tissue derived mesenchymal stem cells (ASCs) may be used to cure bone defects after osteogenic differentiation. In this study we tried to optimize osteogenic differentiation for equine ASCs using various concentrations of CaCl in comparison to the standard osteogenic protocol. ASCs were isolated from subcutaneous adipose tissue from mixed breed horses. The osteogenic induction protocols were (1) the standard osteogenic medium (OM) composed of dexamethasone, ascorbic acid and β-glycerol phosphate; (2) CaCl based protocol composed of 3, 5 and 7.5mM CaCl. Differentiation and proliferatio...
Ginther OJ, Gastal EL, Gastal MO, Checura CM, Beg MA.The effect of insulin-like growth factor-I (IGF-I) on the concentrations of follicular fluid factors during follicle deviation and the development of dominance was studied in mares in two experiments. Transvaginal ultrasound guidance was used for intrafollicular injection and subsequent sequential sampling of follicular fluid. Treatment involved a single injection of IGF-I into the second-largest follicle (F2) at the expected beginning of deviation (Hour 0) based on diameter (> or =20 mm) of the largest follicle (F1). Mares in IGF-I groups were given a dose of 500 microg (experiment 1) or 2...
