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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.
Caspase-3-mediated apoptosis and cell proliferation in the equine endometrium during the oestrous cycle.
Reproduction, fertility, and development    December 14, 2007   Volume 19, Issue 8 925-932 doi: 10.1071/rd06159
Roberto da Costa RP, Serrão PM, Monteiro S, Pessa P, Silva JR, Ferreira-Dias G.Cell proliferation and apoptosis are hormone-dependent physiological processes involved in endometrial growth and regression. The aims of the present study were: (1) to evaluate endometrial cell proliferation using proliferating cell nuclear antigen (PCNA) expression; (2) to evaluate the induction of endometrial cell death by the expression of active caspase-3 and the apoptotic phenotype visualised by DNA fragmentation; and (3) to relate these observations to endometrial tissue dynamics in the equine endometrium throughout the oestrous cycle. Endometria were assigned to follicular and luteal p...
The RSPO genes: chromosomal assignment in horse by FISH.
Animal genetics    December 12, 2007   Volume 39, Issue 1 86-87 doi: 10.1111/j.1365-2052.2007.01673.x
De Lorenzi L, Lear TL, Molteni L, Parma P.This research aims to pinpoint the chromosomal location of R-spondin (RSPO) genes in horses. The R-spondin genes are known to be critical in vertebrate development, with mutations leading to significant […]
Influence of breed and oestrous cycle on endometrial gland surface density in the mare.
Equine veterinary journal    December 11, 2007   Volume 39, Issue 6 506-510 doi: 10.2746/042516407X235812
Lefranc A-, Allen WR.The diffuse noninvasive epitheliochorial equine placenta develops an intimate and complex interdigitation with the maternal endometrium throughout gestation to maximise surface contact and, consequently, optimise nutritional and gaseous maternofetal exchanges. A significant reduction occurs in the surface density of microcotyledons on the placentae of Welsh Pony vs. Thoroughbred mares that may relate to a difference in either the number or density of endometrial glands between these breeds. Objective: To examine this hypothesis and to determine the influence of the oestrous cycle upon the deve...
Construction of a recombinant plasmid as reaction control in routine PCR for detection of contagious equine metritis (CEM-PCR).
The Journal of veterinary medical science    December 7, 2007   Volume 69, Issue 11 1199-1201 doi: 10.1292/jvms.69.1199
Niwa H, Anzai T, Hobo S.Contagious equine metritis (CEM) is a highly contagious bacterial venereal disease of horses caused by Taylorella equigenitalis. CEM-PCR is a semi-nested PCR method for detecting this bacterium. Although this technique is regarded as a sensitive diagnostic method for CEM, there are risks of it generating false positive and false negative results. In this study, we constructed a recombinant plasmid (CEM-POS) as reaction control to assure adequate PCR reaction and prevent false positive results caused by contamination of the reaction control in routine CEM-PCR examinations. CEM-POS was construct...
Loss of expression of protein kinase a regulatory subunit 1alpha in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions.
The American journal of surgical pathology    December 7, 2007   Volume 31, Issue 11 1764-1775 doi: 10.1097/PAS.0b013e318057faa7
Zembowicz A, Knoepp SM, Bei T, Stergiopoulos S, Eng C, Mihm MC, Stratakis CA.Pigmented epithelioid melanocytoma (PEM) is a recently described entity comprising most cases previously described as "animal-type melanoma" and epithelioid blue nevus (EBN) occurring in patients with the multiple neoplasia syndrome Carney complex (CNC). Mutations of the protein kinase A regulatory subunit type 1alpha (R1alpha) (coded by the PRKAR1A gene) are found in more than half of CNC patients. In this study, we investigated whether PEM and EBN are related at the molecular level, and whether changes in the PRKAR1A gene status and the expression of the R1alpha protein may be involved in th...
The horse genome project–sequence based insights into male reproductive mechanisms.
Reproduction in domestic animals = Zuchthygiene    December 6, 2007   Volume 42 Suppl 2 45-50 doi: 10.1111/j.1439-0531.2007.00897.x
Leeb T.The growing knowledge on physiology, cell biology and biochemistry of the reproductive organs has provided many insights into molecular mechanisms that are required for successful reproduction. Research directed at the investigation of reproduction physiology in domestic animals was hampered in the past by a lack of species-specific genomic information. The genome sequences of dog, cattle and horse have become publicly available in 2005, 2006 and 2007 respectively. Although the gene content of mammalian genomes is generally very similar, genes involved in reproduction tend to be less conserved...
Equine coronavirus induces apoptosis in cultured cells.
Veterinary microbiology    December 5, 2007   Volume 129, Issue 3-4 390-395 doi: 10.1016/j.vetmic.2007.11.034
Suzuki K, Matsui Y, Miura Y, Sentsui H.Equine coronavirus (ECoV) was first isolated from a diarrheic foal and was found genetically similar to group II coronaviruses. However, its pathological characteristics were not adequately investigated. In our preliminary in vitro investigation, ECoV-induced cell death was observed in bovine kidney-derived MDBK cells. Based on this finding, we investigated whether the ECoV-induced CPE was apoptosis. Following ECoV infection, MDBK cells showed morphological changes such as cell rounding and detachment from the culture surface. Moreover, syncytium formation was observed as the other type of cyt...
Cloning, expression and purification of envelope proteins E1 and E2 of western equine encephalitis virus and potential use of them as antigens in immunoassays.
Veterinary microbiology    December 3, 2007   Volume 128, Issue 3-4 374-379 doi: 10.1016/j.vetmic.2007.10.022
Hu WG, Chau D, Wong C, Masri SA, Fulton RE, Nagata LP.The genes encoding envelope proteins E1 and E2 of western equine encephalitis virus (WEEV) were respectively cloned into a prokaryotic T7 RNA polymerase-regulated expression vector. The recombinant C-terminal 6xHis-tagged WEEV E1 and E2 were expressed in bacteria as inclusion bodies that were subsequently solubilized with 8M urea, purified by immobilized metal ion affinity chromatography and finally refolded using an arginine system. The purified 6xHis-tagged proteins showed 50kDa bands as revealed by sodium dodecyl sulphate-polyacrylamide gel electrophoresis, consistent with the expected size...
Lactobacillus hayakitensis sp. nov., isolated from intestines of healthy thoroughbreds.
International journal of systematic and evolutionary microbiology    December 1, 2007   Volume 57, Issue Pt 12 2836-2839 doi: 10.1099/ijs.0.65135-0
Morita H, Shiratori C, Murakami M, Takami H, Kato Y, Endo A, Nakajima F, Takagi M, Akita H, Okada S, Masaoka T.Two strains, KBL13(T) and GBL13, were isolated as one of intestinal lactobacilli from the faecal specimens from different thoroughbreds of the same farm where they were born in Hokkaido, Japan. They were Gram-positive, facultatively anaerobic, catalase-negative, non-spore-forming and non-motile rods. KBL13(T) and GBL13 homofermentatively metabolize glucose, and produce lactate as the sole final product from glucose. The 16S rRNA gene sequence, DNA-DNA hybridization, DNA G+C content and biochemical characterization indicated that these two strains, KBL13(T) and GBL13, belong to the same species...
Analysis of ORFs 2b, 3, 4, and partial ORF5 of sequential isolates of equine arteritis virus shows genetic variation following experimental infection of horses.
Veterinary microbiology    November 29, 2007   Volume 129, Issue 3-4 262-268 doi: 10.1016/j.vetmic.2007.11.021
Liu L, Castillo-Olivares J, Davis-Poynter NJ, Baule C, Xia H, Belák S.Samples from horses experimentally infected with the "large plaque variant (LP3A+)" of equine arteritis virus were analysed. These included 182 nasal swabs collected from day 1 to 14 post-infection (p.i.), and 21 virus isolates obtained from white blood cells of animals that showed a prolonged viraemia between days 30 to 72 p.i. In order to determine the genetic stability of the virus and particularly to characterise the genetic variants found during the prolonged viraemia, partial sequences of open reading frame 5 (ORF5) encoding glycoprotein 5 (GP5) were generated. Viruses with amino acid su...
Analysis of factor VIII mediated suppression of lentiviral vector titres.
Gene therapy    November 29, 2007   Volume 15, Issue 4 289-297 doi: 10.1038/sj.gt.3303080
Radcliffe PA, Sion CJ, Wilkes FJ, Custard EJ, Beard GL, Kingsman SM, Mitrophanous KA.Effective gene therapy for haemophilia A necessitates a vector system that is not subject to a pre-existing immune response, has adequate coding capacity, gives long-term expression and preferably can target non-dividing cells. Vector systems based on lentiviruses such as equine infectious anaemia virus (EIAV) fulfil these criteria for the delivery of factor VIII (FVIII). We have found that B domain-deleted (BDD) FVIII protein inhibits functional viral particle production when co-expressed with the EIAV vector system. Although particle numbers (as measured by reverse transcriptase activity) ar...
Commercial semen freezing: individual male variation in cryosurvival and the response of stallion sperm to customized freezing protocols.
Animal reproduction science    November 26, 2007   Volume 105, Issue 1-2 119-128 doi: 10.1016/j.anireprosci.2007.11.010
Loomis PR, Graham JK.One of the challenges for those attempting to cryopreserve stallion spermatozoa is dealing with the stallion to stallion variability in the cryosurvival of their semen. In the dairy industry, each bull stud, essentially utilizes a single cryopreservation technique, and bulls that produce sperm that do not cryopreserve well using that technique are replaced by other bulls. However, replacing stallions is unlikely to prove acceptable to the equine industry, where specific genotypes are desired. Instead, to increase the number of stallions that can be effectively utilized for cryopreserved semen ...
Expression of progesterone and oestrogen receptors by early intrauterine equine conceptuses.
Theriogenology    November 26, 2007   Volume 69, Issue 3 366-375 doi: 10.1016/j.theriogenology.2007.10.011
Rambags BP, van Tol HT, van den Eng MM, Colenbrander B, Stout TA.Progesterone and oestrogen play essential roles in the maintenance of pregnancy in eutherian mammals and are thought to exert their effects on the developing conceptus indirectly, via the endometrium. In some species, early embryos have themselves been shown to express steroid receptors, thereby suggesting that reproductive steroids may also influence embryonic development directly. The aim of this study was to determine whether early intrauterine equine conceptuses express either the classical intracellular progesterone (PR) and oestrogen receptors (ERalpha and ERbeta) or the more recently ch...
Cloning and structural analysis of equine platelet endothelial cell adhesion molecule (PECAM, CD31) and vascular cell adhesion molecule-1 (VCAM-1, CD106).
Veterinary immunology and immunopathology    November 22, 2007   Volume 122, Issue 3-4 295-308 doi: 10.1016/j.vetimm.2007.11.008
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.
Intrafollicular effect of IGF1 on development of follicle dominance in mares.
Animal reproduction science    November 22, 2007   Volume 105, Issue 3-4 417-423 doi: 10.1016/j.anireprosci.2007.11.007
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 ...
Mapping of equine lentivirus receptor 1 residues critical for equine infectious anemia virus envelope binding.
Journal of virology    November 21, 2007   Volume 82, Issue 3 1204-1213 doi: 10.1128/JVI.01393-07
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...
High prevalence of bovine papillomaviral DNA in the normal skin of equine sarcoid-affected and healthy horses.
Veterinary microbiology    November 19, 2007   Volume 129, Issue 1-2 58-68 doi: 10.1016/j.vetmic.2007.11.008
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 ...
Diagnostic real-time PCR assay for the quantitative detection of Theileria equi from equine blood samples.
Veterinary parasitology    November 17, 2007   Volume 151, Issue 2-4 158-163 doi: 10.1016/j.vetpar.2007.10.023
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...
Expression of cell-surface antigens and embryonic stem cell pluripotency genes in equine blastocysts.
Stem cells and development    November 15, 2007   Volume 16, Issue 5 789-796 doi: 10.1089/scd.2007.0032
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...
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
PLoS genetics    November 14, 2007   Volume 3, Issue 11 e195 doi: 10.1371/journal.pgen.0030195
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...
Multiple generalized follicular cysts in a stallion.
Veterinary dermatology    November 10, 2007   Volume 18, Issue 6 456-459 doi: 10.1111/j.1365-3164.2007.00633.x
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...
Genetic relatedness of recent Canadian equine influenza virus isolates with vaccine strains used in the field.
The Canadian veterinary journal = La revue veterinaire canadienne    November 9, 2007   Volume 48, Issue 10 1028-1030 
Gagnon CA, Elahi SM, Tremblay D, Lavoie JP, Bryant NA, Elton DM, Carman S, Elsener J.No abstract available
Reduced incidence of insect-bite hypersensitivity in Icelandic horses is associated with a down-regulation of interleukin-4 by interleukin-10 and transforming growth factor-beta1.
Veterinary immunology and immunopathology    November 9, 2007   Volume 122, Issue 1-2 65-75 doi: 10.1016/j.vetimm.2007.10.018
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)...
Cytochrome P450 3A, NADPH cytochrome P450 reductase and cytochrome b5 in the upper airways in horse.
Research in veterinary science    November 5, 2007   Volume 85, Issue 1 80-85 doi: 10.1016/j.rvsc.2007.09.012
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...
Early laminar events involving endothelial activation in horses with black walnut- induced laminitis.
American journal of veterinary research    November 3, 2007   Volume 68, Issue 11 1205-1211 doi: 10.2460/ajvr.68.11.1205
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...
Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex.
Veterinary ophthalmology    November 1, 2007   Volume 10, Issue 6 368-375 doi: 10.1111/j.1463-5224.2007.00572.x
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...
Calcified tumours of the paranasal sinuses in three horses.
Australian veterinary journal    November 1, 2007   Volume 85, Issue 11 454-458 doi: 10.1111/j.1751-0813.2007.00200.x
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 ...
The mare model for follicular maturation and reproductive aging in the woman.
Theriogenology    October 31, 2007   Volume 69, Issue 1 23-30 doi: 10.1016/j.theriogenology.2007.09.011
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...
A mycolyl transferase mutant of Rhodococcus equi lacking capsule integrity is fully virulent.
Veterinary microbiology    October 25, 2007   Volume 128, Issue 3-4 327-341 doi: 10.1016/j.vetmic.2007.10.020
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...
The equine TLR4/MD-2 complex mediates recognition of lipopolysaccharide from Rhodobacter sphaeroides as an agonist.
Journal of endotoxin research    October 25, 2007   Volume 13, Issue 4 235-242 doi: 10.1177/0968051907083193
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...