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.
Gregg AJ, Schenkel AR.Platelet endothelial cell adhesion molecule (PECAM, CD31) and vascular cell adhesion molecule-1 (VCAM-1, CD106) are essential for leukocyte emigration and diapedesis. PECAM is an essential histologic marker of endothelial cells; VCAM-1 is a prototype marker for endothelial cell activation. In this study, equine PECAM and VCAM mRNA were cloned and sequenced. Both genes are highly conserved amongst several species. This study also revealed conserved structural and regulatory motifs, emphasizing the importance of these genes' physiological roles in immunological responses.
Ginther OJ, Gastal EL, Gastal MO, Beg MA.The effect of an injection of a supraphysiologic dose of rhIGF1 into the second-largest ovarian follicle (F2) at the expected beginning of deviation (F1, > or =20 mm; Day 0) on development of dominance by F2 was studied in mares (n=16; controls, n=8). F1 became dominant (> or =28 mm) in 8 of 8 and 15 of 16 follicles in the controls and treated groups, respectively. The incidence of dominance (P<0.001) and ovulation (P or =20mm after the expected beginning of deviation resulted in dominance by 8 of 12 follicles treated with rhIGF1 on Days 1-3 (n=8 mares). Results demonstrated that the ...
Zhang B, Sun C, Jin S, Cascio M, Montelaro RC.The equine lentivirus receptor 1 (ELR1), a member of the tumor necrosis factor receptor (TNFR) protein family, has been identified as a functional receptor for equine infectious anemia virus (EIAV). Toward defining the functional interactions between the EIAV SU protein (gp90) and its ELR1 receptor, we mapped the gp90 binding domain of ELR1 by a combination of binding and functional assays using the EIAV SU gp90 protein and various chimeric receptor proteins derived from exchanges between the functional ELR1 and the nonbinding homolog, mouse herpesvirus entry mediator (murine HveA). Complement...
Bogaert L, Martens A, Van Poucke M, Ducatelle R, De Cock H, Dewulf J, De Baere C, Peelman L, Gasthuys F.Bovine papillomavirus (BPV), the causative agent of papillomas in cattle, has been shown to play a major role in the pathogenesis of equine sarcoids in horses. BPV has also been detected occasionally in normal equine skin. In this study, presence and activity of BPV in normal skin and peripheral blood of 4 groups of horses were evaluated: sarcoid-affected horses, horses living in contact with sarcoid-affected horses, horses living in contact with papilloma-affected cattle and control horses. From each horse, 3 samples on 4 locations were collected: a swab of the intact skin surface and both a ...
Kim CM, Blanco LB, Alhassan A, Iseki H, Yokoyama N, Xuan X, Igarashi I.We developed a TaqMan real-time polymerase chain reaction (PCR) assay for the quantitative detection of Theileria equi from the in vitro-cultured parasite and field blood samples collected from horses living in Ghana and Brazil. The detection limit for the assay was determined to be 1.5 parasites/microl per sample, and the quantitative capacity was demonstrated using the in vitro-cultured parasite. For field applications, the real-time PCR assay was compared to a previously established nested PCR assay used as the gold standard for the real-time PCR assay. Of 65 field blood samples, 46 samples...
Guest DJ, Allen WR.Embryonic stem-like (ES-like) cells have now been derived from the inner cell mass (ICM) of horse embryos at the blastocyst stage. Because they have been shown to express cell-surface antigens found in both human and mouse ES cells, the present study investigated gene expression patterns in day-7 horse blastocysts from which the horse ES-like cells had been derived originally. The genes studied included Oct-4, stage-specific embryonic antigen-1 (SSEA-1), SSEA-3, SSEA-4, tumor rejection antigen-1-60 (TRA-1-60), TRA-1-81, and alkaline phosphatase activity, and whereas all three of the SSEA antig...
Haase B, Brooks SA, Schlumbaum A, Azor PJ, Bailey E, Alaeddine F, Mevissen M, Burger D, Poncet PA, Rieder S, Leeb T.White coat color has been a highly valued trait in horses for at least 2,000 years. Dominant white (W) is one of several known depigmentation phenotypes in horses. It shows considerable phenotypic variation, ranging from approximately 50% depigmented areas up to a completely white coat. In the horse, the four depigmentation phenotypes roan, sabino, tobiano, and dominant white were independently mapped to a chromosomal region on ECA 3 harboring the KIT gene. KIT plays an important role in melanoblast survival during embryonic development. We determined the sequence and genomic organization of t...
Ginel PJ, Zafra R, Lucena R, Bautista MJ.This case report describes a case of multiple follicular cysts in a 4-year-old Spanish purebred stallion. The lesions ranged in size from 0.5 to 3 cm in diameter, and were firm, well circumscribed and nonpruritic. They developed over a 2-year period with a generalized distribution affecting all body regions. Five nodules were removed and histopathologically corresponded to simple epidermal cysts (infundibular and isthmus-catagen) with squamous epithelium and a keratin filled cavity. Lesions were not evident at birth but their number, early age of detection, slow growth and lack of previous tra...
Hamza E, Wagner B, Jungi TW, Mirkovitch J, Marti E.Insect bite hypersensitivity (IBH) is an allergic dermatitis of horses caused by IgE-mediated reactions to bites of insects of the genus Culicoides. IBH does not occur in Iceland due to the absence of Culicoides. However, Icelandic horses exported to mainland Europe as adults (1st generation) have a > or =50% incidence of developing IBH. In contrast, their progeny (2nd generation) has a <10% incidence of IBH. Here we show that peripheral blood mononuclear cells (PBMC) from Icelandic horses born in mainland Europe and belonging either to the IBH or healthy subgroup produce less interleukin (IL)...
Tydén E, Olsén L, Tallkvist J, Tjälve H, Larsson P.Gene and protein expression as well as catalytic activity of cytochrome P450 (CYP) 3A were studied in the nasal olfactory and respiratory mucosa and the tracheal mucosa of the horse. We also examined the activity of NADPH cytochrome P450 reductase (NADPH P450 reductase), the amount of cytochrome b(5) and the total CYP content in these tissues. Comparative values for the above were obtained using liver as a control. The CYP3A related catalytic activity in the tissues of the upper airways was considerably higher than in the liver. The CYP3A gene and protein expression, on the other hand, was hig...
Loftus JP, Black SJ, Pettigrew A, Abrahamsen EJ, Belknap JK.To determine proinflammatory gene expression, endothelial adhesion molecule gene expression, and matrix metalloproteinase (MMP) concentrations in laminar specimens at 1.5 hours after administration of black walnut extract (BWE) and to compare these values with later time points. Methods: 25 horses. Methods: After nasogastric administration of BWE, anesthesia was induced at 1.5 hours in early time point (ETP) horses (n = 5), between 3 and 4 hours in developmental time point horses (5), and between 9 and 10 hours in acute onset of lameness time point horses (5). Anesthesia was induced at 3 and 1...
Sandmeyer LS, Breaux CB, Archer S, Grahn BH.To determine the prevalence of congenital stationary night blindness (CSNB) in Appaloosa horses in western Canada, investigate the association with the leopard complex of white spotting patterns, and further characterize the clinical and electroretinographic aspects of CSNB in the Appaloosa. Methods: Three groups of 10 Appaloosas were studied based on coat patterns suggestive of LpLp, Lplp, and lplp genotype. Methods: Neurophthalmic examination, slit-lamp biomicroscopy, indirect ophthalmoscopy, measurement of corneal diameter, streak retinoscopy, scotopic and photopic full-field and flicker ER...
Schaaf KL, Kannegieter NJ, Lovell DK.Three horses, a 10-year-old Thoroughbred mare, a 9-year-old Thoroughbred gelding and a 6-year-old Arab gelding, with calcified tumours of the paranasal sinuses, are described. All horses presented with purulent nasal discharges and facial distortion. Exophthalmos, blepharospasm and ocular discharge were also a feature in individual horses. A presumptive diagnosis of a calcified tumour was made on the basis of clinical signs and radiographic and endoscopic findings. The tumours ranged from 15 to 25 cm in diameter. A large frontonasal bone flap was used to expose the tumours, which were cleaved ...
Carnevale EM.Reproductive aging and assisted reproduction are becoming progressively more relevant in human medicine. Research with human subjects is limited in many aspects, and consequently animal models may have considerable utility. Such models have provided insight into follicular function, oocyte maturation, and reproductive aging. However, models are often selected based on factors other than physiological or functional similarities. Although the mare has received limited attention as a model for reproduction in women, comparisons between these species indicate that the mare has many attributes of a...
Sydor T, von Bargen K, Becken U, Spuerck S, Nicholson VM, Prescott JF, Haas A.Rhodococcus equi is a mucoid Gram-positive facultative intracellular pathogen which can cause severe bronchopneumonia in foals and AIDS patients. A polysaccharide capsule which gives R. equi a mucoid appearance has long been suspected to be a virulence factor. Here, we describe a transposome mutant in the gene fbpA of strain R. equi 103 causing absence of a capsular structure. FbpA is a chromosomal gene homologous to antigen 85 (Ag85) mycolyl chain transferase gene of Mycobacterium tuberculosis. The mutant multiplied normally in isolated macrophages, was able to establish the unusual R. equi-c...
Lohmann KL, Vandenplas ML, Barton MH, Bryant CE, Moore JN.Lipopolysaccharide (LPS) antagonists inhibit the response of inflammatory cells to LPS, presumably by competitive inhibition, and may be of therapeutic value in the treatment of endotoxemia and sepsis. The inhibitory effects of some LPS antagonists are restricted to certain host species, however, as the same molecules can have significant endotoxic activity in other species. This species-specific recognition appears to be mediated by Toll-like receptor 4 (TLR4) and/or MD-2. We have shown previously that LPS from Rhodobacter sphaeroides ( RsLPS) is an LPS antagonist in human cells but an agonis...
Davies Morel MC, Newcombe JR.Despite the widespread use of hCG to advance ovulation in the mare there is little information on efficacy of dose rates and any contraindications of its use. This study aims to investigate the effect of dose of hCG on ovulation within 48h and the effect of hCG on: ovulation, multiple ovulation (MO), pregnancy, multiple pregnancy (MP) rates and synchrony of MO; additionally whether any seasonal effect is evident. Sequential ultrasonic scanning was used to monitor the occurrence of ovulation, within 48h of treatment, in 1291 Thoroughbred mares treated with either 750iu hCG or 1500iu hCG s.c. Ov...
Attoui H, Sailleau C, Mohd Jaafar F, Belhouchet M, Biagini P, Cantaloube JF, de Micco P, Mertens P, Zientara S.The complete nucleotide sequence of Middelburg virus (MIDV) was determined for strain MIDV-857 from Zimbabwe. The isolation of this virus in 1993 from a horse that died showing severe clinical signs represents the first indication that MIDV can cause severe disease in equids. Full-length cDNA copies of the viral genome were successfully synthesized by an innovative RT-PCR amplification approach using an 'anchor primer' combined with the SMART methodology described previously for the synthesis of full-length cDNA copies from genome segments of dsRNA viruses. The MIDV-857 genome is 11,674 nt, ex...
Alhassan A, Iseki H, Kim C, Yokoyama N, Igarashi I.Rapid, efficient, and reproducible procedures for isolating DNA before PCR gene amplification are essential for the diagnosis of piroplasms. In this study, we evaluated the ease and reliability of detecting Theileria equi by PCR using pre-extracted DNA samples (by QIAamp DNA Mini Kit and phenol-chloroform methods) compared with blood spotted on FTA cards as PCR templates. Although minimal variations in limit of detection were observed among the methods compared, overall, the use of pre-extracted DNA samples and blood spotted on FTA cards had comparable detection limits. These results indicate ...
Reed SA, Johnson SE.Mesenchymal stem cells (MSCs) offer promise as therapeutic aids in the repair of tendon, ligament, and bone damage suffered by sport horses. The objective of the study was to identify and characterize stem-like cells from newborn foal umbilical cord blood (UCB). UCB was collected and MSC isolated using human reagents. The cells exhibit a fibroblast-like morphology and express the stem cell markers Oct4, SSEA-1, Tra1-60 and Tra1-81. Culture of the cells in tissue-specific differentiation media leads to the formation of cell types characteristic of mesodermal and endodermal origins. Chondrogenic...
de Oliveira Lima AN, da Silva Santos S, Herrera HM, Gama C, Cupolillo E, Jansen AM, Fernandes O.The protozoan Trypanosoma evansi is described as presenting high morphological and genetic similarities among the isolates despite its biological heterogeneity and wide geographical distribution. PCR amplification of the internal transcribed spacers of the ribosomal gene in combination with the coding region of the 5.8S ribosomal subunit further submitted to restriction enzymes digestion were carried out in DNAs extracted from 41 T. evansi strains isolated from horses, dogs, coatis and capybaras from two distinct regions of the Brazilian Pantanal. We also used one T. evansi isolate from Africa...
Pacini S, Spinabella S, Trombi L, Fazzi R, Galimberti S, Dini F, Carlucci F, Petrini M.It has been proven that mesenchymal stromal cells (MSCs) can differentiate into tenocytes. Attempts to repair tendon lesions have been performed, mainly using scaffold carriers in experimental settings. In this article, we describe the clinical use of undifferentiated MSCs in racehorses. Significant clinical recovery was achieved in 9 of 11 horses evaluated using ultrasound analysis and their ability to return to racing. Our results show that the suspension of a small number of undifferentiated MSCs may be sufficient to repair damaged tendons without the use of scaffold support. Ultrasound sca...
Maeda K, Yasumoto S, Tsuruda A, Andoh K, Kai K, Otoi T, Matsumura T.In the present study, an equine-derived cell line was established by transfecting primary fetal horse kidney (FHK) cells with expression plasmid encoding simian virus 40 (SV40) large T antigen and then cloning them by limiting dilution. The cloned cell line, named FHK-Tcl3, grew well and could be propagated over 30 times by splitting them 1:3. Equine herpesvirus (EHV)-1 and EHV-4 replicated well in FHK-Tcl3. EHV-2 and EHV-4 were isolated from samples collected from horses in the field using FHK-Tcl3, and EHV-3 also propagated in FHK-Tcl3. These results indicated that this novel cell line, FHK-...
Dranchak PK, Leiper FC, Valberg SJ, Piercy RJ, Carling D, McCue ME, Mickelson JR.To evaluate whether biochemical or genetic alterations in AMP-activated protein kinase (AMPK) play a role in the development of polysaccharide storage myopathy (PSSM) in Quarter Horses. Methods: 30 PSSM-affected and 30 unaffected (control) Quarter Horses. Methods: By use of an established peptide phosphotransfer assay, basal and maximal AMPK activities were measured in muscle biopsy samples obtained from 6 PSSM-affected and 6 control horses. In 24 PSSM-affected and 24 control horses, microsatellite markers identified from the chromosomal locations of all 7 AMPK subunit genes were genotyped wit...
Hansen M, Knorr C, Hall AJ, Broad TE, Brenig B.The solute carrier family 26, member 2 (SLC26A2) gene belongs to a family of multifunctional anion exchangers. Mutations in the human SLC26A2 gene are associated with autosomal recessively inherited chondrodysplasias. Hence, we postulate that the equine SLC26A2 could be a candidate gene for conformational traits in horses. An equine BAC clone harboring the SLC26A2 gene was isolated. The complete 142,625 bp insert sequence of this clone was determined by transposon sequencing. Together with the SLC26A2 gene the BAC clone contains four genes, i.e. the macrophage colony stimulating factor 1 recep...
Goudet G, Douet C, Kaabouba-Escurier A, Couty I, Moros-Nicolás C, Barrière P, Blard T, Reigner F, Deleuze S, Magistrini M.Most wild and domestic donkey breeds are currently endangered or threatened. Their preservation includes the creation of a Genome Resource Bank. Embryos cryopreservation allows the preservation of genetics from both male and female and is the fastest method to restore a breed. Because embryo production in vivo is limited in equids, our objective was to establish conditions for in vitro production of embryos in donkey using ovum pick up (OPU), IVM, IVF, and in vitro culture of zygotes. Donkey cumulus-oocyte complexes (COCs) were collected by transvaginal ultrasound-guided aspirations OPU in ...
Nemoto M, Nagai M, Tsunemitsu H, Omatsu T, Furuya T, Shirai J, Kondo T, Fujii Y, Todaka R, Katayama K, Mizutani T.Equine group A rotavirus (RVA) G3P[12] and G14P[12] strains cause gastroenteritis in foals worldwide. Both of these strains have been co-circulating in Japan since G14P[12] strains emerged in the late 1990s. Although it is important to comprehensively understand the evolution of RVA strains, whole-genome sequence data on recent equine RVA strains in Japan are lacking. Therefore, in this study, whole-genome analysis of 23 equine RVA isolates from the late 1990s and 2009-2010 and the vaccine strain RVA/Horse-tc/JPN/HO-5/1982/G3P[12] (HO-5) was performed. The G3 strains, including strain HO-5, sh...
Grady JG, Elder SH, Ryan PL, Swiderski CE, Rashmir-Raven AM.Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive skin disorder that has yet to be fully characterized. HERDA is predominately expressed in Quarter Horses, with the majority of these disseminating from elite cutting horse bloodlines, leading to the increased incidence of HERDA in recent years. Affected horses have loose, hyper-extensible, fragile skin and are frequently euthanized due to poor wound healing and disfiguring scars. This study sought to better characterize HERDA by analysis of the biomechanical parameters of tensile strength, modulus of elasticity, energ...
Lazary S, Dubath ML, Luder C, Gerber H.A case of recombination between the putative class I ELA antigen series and the structure(s) governing mixed lymphocyte reactivity in an informative horse family is described. The results of serological typing, 'lysostripping' and mixed lymphocyte culture tests strongly suggest that the recombination took place between two loci and is not intragenic. An alloantigenic membrane structure, provisionally called B1, which does not belong to the known ELA series, was also involved in the cross-over. The B1 antigen resembles the class II gene products of other species in two respects: it is not prese...
Lee JH, Song KD, Kim JM, Leem HK, Park KD.Jeju horse (Natural Monument number 347) is a breed of horse that has experienced long-term isolation and domestication in Jeju Island, South Korea. We evaluated genetic features of this breed, including SNP, by whole-genome resequencing using an Illumina HiSeq 2000. A total of 5,986,852 SNP were identified in 4 Jeju horses and were divided into homozygous and heterozygous SNP (2,357,099 and 3,629,753 SNP, respectively). It revealed that 63.8% of these SNP resided in intergenic regions. Immune response genes with nonsynonymous SNP were overrepresented in Jeju horses as evidenced by Gene Ontolo...
Gutiérrez-Cepeda L, Fernández A, Crespo F, Ramírez MÁ, Gosálvez J, Serres C.Variability among stallions in terms of semen cryopreservation quality renders it difficult to arrive at a standardized cryopreservation method. Different extenders and processing techniques (such us colloidal centrifugation) are used in order to optimize post-thaw sperm quality. Sperm chromatin integrity analysis is an effective tool for assessing such quality. The aim of the present study was to compare the effect of two single layer colloidal centrifugation protocols (prior to cryopreservation) in combination with three commercial freezing extenders on the post-thaw chromatin integrity of e...
Bermúdez VM, Miller RB, Rosendal S, Fernando MA, Johnson WH, O'Brien PJ.The cytopathic effects induced by five strains of Mycoplasma equigenitalium for cells of equine uterine tube explants were tested by measuring changes in cellular and extracellular concentrations of calmodulin (CaM). Calmodulin concentrations in samples of total homogenate (TH) and total homogenate supernates (THS) of the infected equine uterine tube explants were significantly lower than respective measurements on noninfected controls. In tissue culture medium fractions (TCM) of some infected explants, CaM concentrations were significantly higher than noninfected controls (p > 0.95). The r...
Andersson LS, Lyberg K, Cothran G, Ramsey DT, Juras R, Mikko S, Ekesten B, Ewart S, Lindgren G.The syndrome Multiple Congenital Ocular Anomalies (MCOA) is the collective name ascribed to heritable congenital eye defects in horses. Individuals homozygous for the disease allele (MCOA phenotype) have a wide range of eye anomalies, while heterozygous horses (Cyst phenotype) predominantly have cysts that originate from the temporal ciliary body, iris, and/or peripheral retina. MCOA syndrome is highly prevalent in the Rocky Mountain Horse but the disease is not limited to this breed. Affected horses most often have a Silver coat color; however, a pleiotropic link between these phenotypes is y...
Cheevers WP, Roberson SM, Brassfield AL, Davis WC, Crawford TB.A virus with the morphologic and biochemical properties of the family Retroviridae has been isolated from cultured cells explanted from a malignant tumor induced by intradermal inoculation of equine sarcoid cells into a combined immunodeficient Arabian foal. By electron microscopy, intracytoplasmic, extracellular, and budding particles measuring 89 to 120 nm with electron-lucent cores were seen. Virus purified from the medium of cultured cells had a buoyant density of 1.15 g/cm3 in isopycnic sucrose-gradient centrifugation, incorporated radiolabeled uridine but not thymidine, and had constitut...
Aberle K, Wrede J, Distl O.We analysed the relationship coefficients (R) between the four German heavy horse breeds South German Coldblood, Rhenish German Draught Horse, Schleswig Draught Horse and Black Forest Draught Horse. The relationship coefficient makes it possible to ascertain crossbreeding between the breeds over time, or autonomous developments of the breeds, respectively. The investigation revealed that the relationship coefficients between the German draught horse breeds were very low. The mean relationship coefficients between the four German heavy horse breeds were largest between the South German Coldbloo...
McAleese SM, Miller HR.The high-affinity receptor for IgE is expressed on the surface of mast cells and basophils. It is a transmembrane protein with one alpha, one beta and two gamma subunits. The cDNA sequences for the alpha subunit have already been determined. We report here the cDNA sequences for the beta and gamma subunits. The cytoplasmic domains of these subunits are important for intracellular signalling and the deduced amino acid sequences show the expected immunoreceptor tyrosine-based activation motifs. The gamma subunit is highly conserved between species but more variation is seen with the beta subunit...
Sponseller BA, Sponseller BT, Alcott CJ, Kline K, Hostetter J, Reinertson EL, Fales-Williams A.Syringomyelia and hydromyelia are cavitary lesions of the spinal cord that may be acquired or congenital. These lesions are not frequently reported in large animal species. The presenting complaints, clinical, gross pathological, and histopathologic findings of 2 cases of syringomyelia and 1 case of hydromyelia in horses are described. La syringomyélie et l’hydromyélie sont des lésions cavitaires de la colonne vertébrale qui peuvent être acquises ou congénitales. Ces lésions ne sont pas fréquemment signalées chez les espèces de grands animaux. Les plaintes de présentation et les ...
Vdovina NV, Yuryeva IB.Mezenskaya horse (Mezenka) is Russia's aboriginal breed. It is a domestic selection in the northern territories of Arkhangelsk region. The breed is perfectly adapted to the conditions of the Far North, and has a number of valuable economic and biological qualities. At present, it has a limited gene pool and is bred only in the Mezensky district, where one gene pool-breeding farm is operating and so is a number of basic farms, where selection and breeding activities take place with the breed. Due to a small population of Mezen horses, the challenge of preserving its intra-breed diversity is ver...