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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.
Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse.
The Journal of investigative dermatology    September 17, 2002   Volume 119, Issue 3 684-691 doi: 10.1046/j.1523-1747.2002.01852.x
Spirito F, Charlesworth A, Linder K, Ortonne JP, Baird J, Meneguzzi G.Recent achievements in the genetic correction of keratinocytes isolated from patients with junctional epidermolysis bullosa have paved the way to a gene therapy approach for the disease. Because gene therapy protocols require preclinical validation in animals, we have characterized spontaneous animal models of junctional epidermolysis bullosa. In this study we have elucidated the genetic basis of the hereditary junctional mechanobullous disease in the Belgian horse, a condition characterized by blistering of the skin and mouth epithelia, and exungulation (loss of the hoof). Immunofluorescence ...
[Horse breeding: genetic tests for the coat colors chestnut, bay and black. Results from a preliminary study in the Swiss Freiberger horse breed].
Schweizer Archiv fur Tierheilkunde    September 13, 2002   Volume 144, Issue 8 405-412 doi: 10.1024/0036-7281.144.8.405
Henner J, Poncet PA, Aebi L, Hagger C, Stranzinger G, Rieder S.Coat color played an important role during domestication and formation of breeds. Livestock breeders often had special preferences for particular color phenotypes because they believed them to be associated with performance or fitness traits. Socio-cultural reasons might have had an influence on color selection as well. Recently genetic tests on DNA level got available to genotype in any individual horse for basic horse coat colors (chestnut, bay, black). In particular, hidden carriers of the recessive chestnut and black allele are recognizable with these tests. A sample of 162 Franches-Montag...
[Microsatellite analysis in a population of Baudet du Poitou donkeys].
Schweizer Archiv fur Tierheilkunde    September 13, 2002   Volume 144, Issue 8 413-417 doi: 10.1024/0036-7281.144.8.413
Schelling C, Hagger C, Pieńkowska A, Siegfried JP, Stranzinger G.A population of Baudet du Poitou donkeys was genetically characterized using microsatellites. The results were used to verify the pedigrees and to estimate the genetic variability. It could be confirmed that a equine parentage test kit works well for donkeys and that by using 13 microsatellites more than 99% of wrong pedigree informations would be detected. The genetic variability was comparable to a representative group of Baudet du Poitou donkeys in France.
Polymerase chain reaction-restriction fragment length polymorphism analysis of the SzP gene of Streptococcus zooepidemicus isolated from the respiratory tract of horses.
American journal of veterinary research    September 13, 2002   Volume 63, Issue 9 1298-1301 doi: 10.2460/ajvr.2002.63.1298
Anzai T, Timoney JE, Kuwamoto Y, Wada R, Oikawa M, Higuchi T.To develop polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis for molecular typing of strains of Streptococcus zooepidemicus and to use the new typing method to analyze a collection of isolates from the respiratory tract of Thoroughbreds. Methods: 10 strains of S zooepidemicus, 65 isolates from the respiratory tract of 9 yearlings following long distance transportation, and 89 isolates from tracheal aspirates of 20 foals with pneumonia. Methods: Phenotypic variations in the SzP protein were detected by western immunoblot analysis. Using PCR-RFLP analysis, ge...
The first reported case of equine nocardioform placentitis in South Africa.
Journal of the South African Veterinary Association    September 11, 2002   Volume 72, Issue 4 235-238 doi: 10.4102/jsava.v72i4.659
Volkmann DH, Williams JH, Henton JH, Donahue JM, Williams NM.Since the late 1980s a distinct form of focally-extensive mucoid to mucopurulent uterine body chronic placentitis,caused by nocardioform organisms, hasbeen recognised in horses in the USA state of Kentucky and possibly in other areas. This disease has led to increasing numbers of foal losses from late abortions, still-births, prematurity, or early neonatal deaths. The foals are usually not infected, but may be small or emaciated. Modes of infection and transmission are as yet unknown. Nocardia spp. and related nocardioform bacteria as causes of equine infertility, endometritis and foal death a...
Protamine P1 sequences in equids: comparison with even-toed animals.
Theriogenology    September 6, 2002   Volume 58, Issue 5 1007-1015 doi: 10.1016/s0093-691x(02)00940-8
Pirhonen A, Linnala-Kankkunen A, Kenney RM, Mäenpää PH.Protamine P1 amino acid sequences were determined from semen samples of the Przewalski horse, donkey, Somali wild ass, Grevy's zebra, and Grant's zebra (odd-toed perissodactyls), and compared with those of the domestic horse. Although the rate of amino acid variation of protamine P1 is known to be among the most rapidly diverging polypeptides, the equid sequences revealed only little variation. The sequence from the Przewalski horse was identical with that from the domestic horse. The other sequences differed from the corresponding sequences of the domestic and Przewalski horses in two positio...
Effect of nitric oxide synthase inhabitors on ovulation in hCG-stimulated mares.
Theriogenology    September 6, 2002   Volume 58, Issue 5 1017-1026 doi: 10.1016/s0093-691x(02)00932-9
Pinto CR, Paccamonti DL, Eilts BE, Short CR, Godke RA.Recent studies suggest that nitric oxide (NO) may have a role in regulating ovarian physiology. To investigate the role of NO during ovulation in mares, inhibitors of the nitric oxide synthase (NOS) were administered to estrous mares. Forty cycling mares (20 horses and 20 pony mares) were allotted to one of the three treatment groups. Once a follicle was at least 27 mm in diameter, but smaller than 35 mm, mares were given one of the following treatments: saline solution 0.9% (n = 20, w/v, i.v., every 12 h), Nomega-nitro-L-arginine methyl ester hydrochloride (L-NAME; n = 10, 148 micromol/kg, i....
Embryonic development in quadruplet equine pregnancies.
The Veterinary record    September 5, 2002   Volume 151, Issue 7 214-216 doi: 10.1136/vr.151.7.214
Newcombe JR, England GC.No abstract available
Hierarchical analysis of genetic structure in Spanish donkey breeds using microsatellite markers.
Heredity    September 5, 2002   Volume 89, Issue 3 207-211 doi: 10.1038/sj.hdy.6800117
Aranguren-Méndez J, Gómez M, Jordana J.The hierarchical population structure of five, native-Spanish donkey breeds (Andaluza, Catalana, Mallorquina, Encartaciones and Zamorano-Leonesa) has been studied using F-statistics. In addition, nine Moroccan asses and 24 Merens breed horses were included in the analysis. Data came from 15 DNA microsatellites. The analysis shows that Spanish donkeys are substructured at both hierarchical levels studied, among breeds and within breeds (between subpopulations). In the whole population, the deficit of heterozygotes was estimated to be about 21%. The fixation indices corresponding to differences ...
Characterisation of the biological activity of recombinant equine eotaxin in vitro.
Cytokine    August 30, 2002   Volume 19, Issue 1 27-30 doi: 10.1006/cyto.2002.1052
Benarafa C, Collins ME, Hamblin AS, Sabroe I, Cunningham FM.The chemokine eotaxin (CCL11) is a key player in the trafficking of eosinophils to normal tissues and in the tissue eosinophilia associated with human allergic disease. We have recently cloned equine eotaxin and here we report the production of rEq eotaxin, with and without a C-terminal fusion peptide, in a novel expression system utilising stably transfected insect cells. rEq eotaxin induced equine eosinophil migration and superoxide production in vitro. A shape change in human eosinophils that could be blocked by 7B11, a monoclonal antibody against human CCR3, was also observed. Biological a...
Spectroscopic and electrochemical studies of horse myoglobin in dimethyl sulfoxide.
Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry    August 30, 2002   Volume 8, Issue 1-2 83-94 doi: 10.1007/s00775-002-0392-9
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...
Follicle and endocrine dynamics during experimental follicle deviation in mares.
Biology of reproduction    August 24, 2002   Volume 67, Issue 3 862-867 doi: 10.1095/biolreprod.102.004309
Ginther OJ, Meira C, Beg MA, Bergfelt DR.Deviation during a follicular wave in mares begins when the largest follicle (F1) reaches a mean diameter of 22.5 mm and is characterized by continued growth of F1 to become the dominant follicle and regression of F2 to become the largest subordinate follicle. In the present study, F1 was ablated at the expected beginning of deviation (Hour 0) to provide a reference point for characterizing the intrafollicular changes preceding experimental deviation between F2 and F3. Diameters and concentrations of follicular fluid factors in F2 and F3 were determined in F1-ablated mares at Hours 0, 12, 24, ...
An activator protein-1 complex mediates epidermal growth factor regulation of equine glycoprotein alpha subunit expression in trophoblast cells.
Biology of reproduction    August 24, 2002   Volume 67, Issue 3 972-980 doi: 10.1095/biolreprod.101.001057
Thway TM, Wolfe MW.Equids and primates are the only species known to express the placental hormone chorionic gonadotropin (CG). CG is a member of the heterodimeric glycoprotein family and is composed of an alpha subunit linked to a hormone-specific beta subunit. Previously, we have reported that epidermal growth factor (EGF) regulates the equine glycoprotein hormone alpha subunit promoter through a protein kinase C (PKC)/mitogen-activated protein kinase (MAPK) signal transduction pathway in trophoblasts. The current study investigates the regulatory element/factors involved in the induction of equine glycoprotei...
Evidence for sulfatase and 17beta-hydroxysteroid dehydrogenase type 1 activities in equine epididymis and uterus.
Theriogenology    August 17, 2002   Volume 58, Issue 1 113-121 doi: 10.1016/s0093-691x(02)00917-2
Lemazurier E, Séralini GE.Our previous work showed that stallion testis produces high amounts of estrogens which are subsequently found in the ejaculate. These estrogens are mainly synthesized by testicular aromatase, and the major estrogen produced is estrone sulfate (E1S). The objective of this study was to investigate the potential role of E1S as a source of estrogens in the male and female horse reproductive tracts by determining whether both estrone sulfatase (Sulf) and 17beta-hydroxysteroid dehydrogenase type I (17beta-HSD1) activities were present in equine testes, epididymis and uterus. We assessed E1S bioconve...
[Prevalence of behavioral disorders in the Swiss horse population].
Schweizer Archiv fur Tierheilkunde    August 15, 2002   Volume 144, Issue 7 356-368 doi: 10.1024/0036-7281.144.7.356
Bachmann I, Staᆲher M.In the Swiss horse population, the prevalence of conspicuous behaviours (behavioural disorders and stable vices) was recorded with a written questionnaire in a representative survey among 1861 horse yards, and the occurrence of the stereotypic behavioural disorders crib-biting, weaving and boxwalking was analysed with emphasis on their association with horse specific (breed, age, sex) and environmental factors (e.g. housing system, nutrition, management and utilisation). 622 horse yards with a total number of 2536 horses answered to the questionnaire, and conspicuous behaviours were described ...
Geographic variability of Escherichia coli ribotypes from animals in Idaho and Georgia.
Journal of environmental quality    August 15, 2002   Volume 31, Issue 4 1273-1278 doi: 10.2134/jeq2002.1273
Hartel PG, Summer JD, Hill JL, Collins JV, Entry JA, Segars WI.Several genotypic methods have been developed for determining the host origin of fecal bacteria in contaminated waters. Some of these methods rely on a host origin database to identify environmental isolates. It is not well understood to what degree these host origin isolates are geographically variable (i.e., cosmopolitan or endemic). This is important because a geographically limited host origin database may or may not be universally applicable. The objective of our study was to use one genotypic method, ribotyping, to determine the geographic variability of the fecal bacterium, Escherichia ...
Sarcocystis neurona: parasitemia in a severe combined immunodeficient (SCID) horse fed sporocysts.
Experimental parasitology    August 14, 2002   Volume 100, Issue 3 150-154 doi: 10.1016/s0014-4894(02)00012-7
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...
Detection of natural infection of Boophilus microplus with Babesia equi and Babesia caballi in Brazilian horses using nested polymerase chain reaction.
Veterinary parasitology    August 7, 2002   Volume 107, Issue 4 351-357 doi: 10.1016/s0304-4017(02)00131-0
Battsetseg B, Lucero S, Xuan X, Claveria FG, Inoue N, Alhassan A, Kanno T, Igarashi I, Nagasawa H, Mikami T, Fujisaki K.The potential role of Boophilus microplus as a natural tick vector of Babesia equi and Babesia caballi in Brazilian horses was assessed using nested polymerase chain reaction (PCR)-based marker assay. B. equi merozoite-specific 218bp gene fragment was detected in almost 96% of horse blood samples, and 45.3-62.5% of females, eggs, larvae, and nymphs of B. microplus collected from 47 horses at Campo Grande in the State of Matto Grosso, Brazil. Except for the partially-fed female ticks, the B. caballi-specific 430bp gene fragment was amplified from horse blood samples, and all developmental stage...
Recommended terminology and advances in the systematics of the Cyathostominea (Nematoda: Strongyloidea) of horses.
Veterinary parasitology    August 7, 2002   Volume 107, Issue 4 337-342 doi: 10.1016/s0304-4017(02)00167-x
Lichtenfels JR, Gibbons LM, Krecek RC.Terminology for common names for the Tribe Cyathostominea (cyathostomins), and disease caused by the nematodes (cyathostominosis), were recommended to replace the previously used names cyathostomes and cyathostomosis, which are ambiguous, inaccurate or synonymous, by the Third Internal Workshop on the Systematics of Cyathostominea of Horses, held in Stresa, Italy, 28 August 2001. The progress by this international working group at three workshops is reviewed briefly and a list of publications is provided. Included are an annotated checklist by genus and species of 93 species level names and th...
Nitric oxide synthase inhibition speeds oxygen uptake kinetics in horses during moderate domain running.
Respiratory physiology & neurobiology    August 6, 2002   Volume 132, Issue 2 169-178 doi: 10.1016/s1569-9048(02)00068-x
Kindig CA, McDonough P, Erickson HH, Poole DC.Within the moderate exercise intensity domain, the speed of oxygen uptake (V(O(2))) kinetics at the transition to a higher metabolic rate is thought to be limited by an inertia of the oxidative machinery. Nitric oxide (NO)-induced inhibition of O(2) consumption within the electron transport chain may contribute to this inertia. This investigation tested the hypothesis that a reduction or removal of any such NO effect via infusion of N(omega)-nitro-L-arginine methyl ester (L-NAME; a NOS inhibitor) would speed V(O(2)) kinetics at the onset of moderate exercise. Five Thoroughbred geldings underwe...
Paranasal meningioma in a horse. Kreeger JM, Templer A, Tumquist SE, Bailey KL, Johnson PJ, Wilson DA.Paranasal meningioma was diagnosed in a 5-year-old Appaloosa gelding. The mass occupied the right maxillary, frontal, and sphenopalatine sinuses but did not invade the calvarium. The diagnosis was based on histologic evaluation, positive immunohistochemical staining for vimentin and cytokeratin, and ultrastructural features including the presence of interdigitating spindle cells with numerous desmosomes.
Computer simulations to determine the efficacy of different genome resource banking strategies for maintaining genetic diversity.
Cryobiology    August 2, 2002   Volume 44, Issue 2 122-131 doi: 10.1016/s0011-2240(02)00013-5
Harnal VK, Wildt DE, Bird DM, Monfort SL, Ballou JD.Genome resource banks (GRBs) and assisted reproductive techniques are increasingly recognized as useful tools for the management and conservation of biodiversity, including endangered species. Cryotechnology permits long-term storage of valuable genetic material. Although, the actual application to endangered species management requires technical knowledge about sperm freezing and thawing, a systematic understanding of the quantitative impacts of various germ plasm storage and use scenarios is also mandatory. In this study, various GRB strategies were analyzed using the historical data from th...
Evaluation of factors affecting individual assignment precision using microsatellite data from horse breeds and simulated breed crosses.
Animal genetics    July 26, 2002   Volume 33, Issue 4 264-270 doi: 10.1046/j.1365-2052.2002.00868.x
Bjørnstad G, Røed KH.Assignment tests have been utilized to investigate population classification, measure genetic diversity and to solve forensic questions. Using microsatellite data from 26 loci genotyped in eight horse breeds we examined how population differentiation, number of scored loci, number of scored animals per breed and loci variability affected individual assignment precision applying log likelihood methods. We found that both genetic differentiation and number of scored loci were highly important for recognizing the breed of origin. When comparing two and two breeds, a proportion of 95% of the most ...
A PCR-RFLP for KIT associated with tobiano spotting pattern in horses.
Animal genetics    July 26, 2002   Volume 33, Issue 4 301-303 doi: 10.1046/j.1365-2052.2002.00854.x
Brooks SA, Terry RB, Bailey E.An MspI polymorphism was identified in intron 13 of the equine homologue of proto-oncogene c-kit (KIT) by comparing DNA sequences from horses with solid coat colour and horses homozygous for the tobiano spotting (To) gene. The allele associated with solid coat colour was designated KM0, while the allele associated with the tobiano pattern created an additional MspI restriction site and was designated KM1. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) studies using DNA from hair follicles demonstrated that all 129 of 129 tobiano patterned horses possessed the KM1...
History and integrity of thoroughbred dam lines revealed in equine mtDNA variation.
Animal genetics    July 26, 2002   Volume 33, Issue 4 287-294 doi: 10.1046/j.1365-2052.2002.00870.x
Hill EW, Bradley DG, Al-Barody M, Ertugrul O, Splan RK, Zakharov I, Cunningham EP.Mitochondrial DNA (mtDNA) D-loop sequences (381 bp) from 100 thoroughbreds in 19 of the most common matrilineal female families were used to reconstruct a founder female population for the thoroughbred ( approximately 1650-1750 AD). Seventeen haplotypes were found to have contributed to the 19 female lineages. In order to place the reconstructed founder population in wider historical context, we examined, using both single strand conformation polymorphism and direct sequence analysis, variation in a 343 bp mtDNA fragment in that population and 13 other horse populations of disparate provenance...
Genetic diversity of Cheju horses (Equus caballus) determined by using mitochondrial DNA D-loop polymorphism.
Biochemical genetics    July 26, 2002   Volume 40, Issue 5-6 175-186 doi: 10.1023/a:1015884125507
Yang YH, Kim KI, Cothran EG, Flannery AR.We used sequence polymorphism of the mitochondrial DNA D-loop (968 bp excluding the tandem repeat region) to determine genetic diversity of horses inhabiting Cheju (a southern island of Korea). Seventeen haplotypes with frequencies from 1.5 to 21.5% were found among 65 Cheju horse samples. Genetic diversity (h) of the 17 haplotypes was calculated to be 0.91, indicating that the extant Cheju horse population consists of diverse genetic groups in their maternal lineage. Phylogenetic analysis showed that 17 types of Cheju (D-loop sequences determined), 5 Mongolian, 6 Arabian, 3 Belgian, 2 Tsushim...
Expression of interleukin-1 (IL-1) system genes in equine cumulus-oocyte complexes and influence of IL-1beta during in vitro maturation.
Biology of reproduction    July 24, 2002   Volume 67, Issue 2 630-636 doi: 10.1095/biolreprod67.2.630
Martoriati A, Lalmanach AC, Goudet G, Gérard N.A growing body of evidence suggests that the ovary is a site of inflammatory reactions, and thus, ovarian cells could represent sources and targets of the interleukin-1 (IL-1) system. The aim of the present work was to investigate the expression of IL-1alpha, IL-1beta, IL-1ra, IL-1R1, and IL-1R2 genes in equine cumulus cells and oocytes. Moreover, the influence of IL-1beta on in vitro maturation of cumulus-oocytes complexes (COCs) was examined. COCs were collected using ultrasound-guided follicular puncture in vivo. Oocytes and cumulus cells were isolated from preovulatory and subordinate foll...
Production of nuclear transfer horse embryos by Piezo-driven injection of somatic cell nuclei and activation with stallion sperm cytosolic extract.
Biology of reproduction    July 24, 2002   Volume 67, Issue 2 561-567 doi: 10.1095/biolreprod67.2.561
Choi YH, Love CC, Chung YG, Varner DD, Westhusin ME, Burghardt RC, Hinrichs K.We investigated the use of direct nuclear injection using the Piezo drill and activation by injection of stallion sperm cytosolic extract for production of cloned equine embryos. When metaphase II horse oocytes were injected with either of two dosages of sperm extract and cultured 20 h, similar activation rates (88% vs. 90%) and cleavage rates (49% vs. 46%) were obtained. The successful reconstruction rate of horse oocytes with horse somatic cell donor nuclei after direct injection using the Piezo drill was 82%. Four dosages of sperm extract (containing 59, 176, 293, or 1375 microg/ml protein)...
Molecular characterization of the equine AEG1 locus.
Gene    July 18, 2002   Volume 292, Issue 1-2 65-72 doi: 10.1016/s0378-1119(02)00673-x
Giese A, Jude R, Kuiper H, Piumi F, Schambony A, Guérin G, Distl O, Töpfer-Petersen E, Leeb T.Acidic epididymal glycoprotein 1 (AEG1), also called cysteine-rich secretory protein 1 (CRISP1), is a member of the CRISP protein family which is characterized by 16 conserved cysteine residues at the C-terminus. The CRISP proteins are expressed in the male genital tract and are thought to be involved in sperm-egg fusion. Therefore, their genes are of interest as candidate genes for inherited male fertility dysfunctions and as putative quantitative trait loci for male fertility traits. In this report, the cloning and DNA sequence of 90 kb of horse genomic DNA from equine chromosome 20q22 conta...
Contribution of heme-propionate side chains to structure and function of myoglobin: chemical approach by artificially created prosthetic groups.
Journal of inorganic biochemistry    July 18, 2002   Volume 91, Issue 1 94-100 doi: 10.1016/s0162-0134(02)00423-3
Hayashi T, Matsuo T, Hitomi Y, Okawa K, Suzuki A, Shiro Y, Iizuka T, Hisaeda Y, Ogoshi H.Horse heart myoglobin was reconstituted with mesohemin derivatives methylated at the 6- or 7-position to evaluate the role of the heme-6-propionate or heme-7-propionate side chain in the protein. The association and dissociation of the O(2) binding for the deoxymyoglobin with 6-methyl-7-propionate mesoheme are clearly accelerated. Furthermore, the myoglobin with 6-methyl-7-propionate mesoheme shows fast autoxidation from oxymyoglobin to metmyoglobin compared to the myoglobin with 6-propionate-7-methyl heme and the reference protein. These results indicate the 6-propionate plays an important ph...