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.
Asanovich KM, Bakken JS, Madigan JE, Aguero-Rosenfeld M, Wormser GP, Dumler JS.The agent of human granulocytic ehrlichiosis (HGE), Ehrlichia phagocytophila, and Ehrlichia equi are very similar. HGE is of variable severity. Genetic and antigenic differences among 3 human isolates (Webster, Spooner, and NY-8) and 1 horse isolate (MRK) were evaluated. The 16S rRNA gene sequences were identical in all human isolates. By use of 5 homologous antisera from these 3 humans and 1 horse and an additional 5 antisera in heterologous reactions, the immunodominant antigens of each isolate were noted to differ in molecular size: 43 kDa in the Webster (Wisconsin) isolate, 46 kDa in the S...
Godard S, Vaiman D, Oustry A, Nocart M, Bertaud M, Guzylack S, Mériaux JC, Cribiu EP, Guérin G.Thirty-six new horse microsatellites (11 from plasmid libraries and 25 from a cosmid library) were isolated and characterized on a panel of four horse breeds. Thirty were found to be polymorphic with heterozygosity levels ranging between 0.20 and 0.87. Twenty-two of the cosmids were physically mapped to R-banded single horse Chromosomes (Chrs) 1, 3, 4, 9, 11, 12, 13, 15, 18, 19, 21, 22, 23 and three to pericentromeric regions. Furthermore, linkage analysis between a selection of 42 DNA markers, including those presented in this study, and 16 conventional markers of the horse hemotype was perfo...
Hansen TF.Comparative studies tend to differ from optimality and functionality studies in how they treat adaptation. While the comparative approach focuses on the origin and change of traits, optimality studies assume that adaptations are maintained at an optimum by stabilizing selection. This paper presents a model of adaptive evolution on a macroevolutionary time scale that includes the maintenance of traits at adaptive optima by stabilizing selection as the dominant evolutionary force. Interspecific variation is treated as variation in the position of adaptive optima. The model illustrates how phylog...
Fitzmaurice T, Walker C, Kukreja A, Sun Y, Brown SM, Field HJ.A series of mutants of equine herpesvirus-1 (EHV-1) which contain deletions in non-essential genes was previously characterized in a murine intranasal infection model. One mutant, ED71 which was shown to be attenuated in the model, was further characterized by inoculation into pregnant mice. Despite the attenuation previously reported, intranasal inoculation of pregnant mice resulted in premature parturition and the birth of dead or dying foetuses. Furthermore, mice inoculated before pregnancy with the same mutant, and subsequently challenged 14 days after conception with wild-type virus, were...
Wolff A, Hausberger M, Le Scolan N.Different tests were used to assess different aspects of the emotionality of 1-3 year-old horses: arena test; a `novel object' test; and a handling test. In reaction to the test situations no important differences were observed according to age or sex in the behaviour patterns, but clear individual differences were observed within these classes. The arena test seemed to reveal the degree of gregariousness of the animals whereas the results in the two other tests were correlated and seemed to reflect an inherent degree of fearfulness in the horse. Indices were developed that enabled to rank the...
Maurus R, Overall CM, Bogumil R, Luo Y, Mauk AG, Smith M, Brayer GD.Well-ordered internal amino acids can contribute significantly to the stability of proteins. To investigate the importance of the hydrophobic packing interface between helices G and H in the proximal heme pocket of horse heart myoglobin, the highly conserved amino acid, Leu104, was substituted with asparagine, a polar amino acid of similar size. The Leu104Asn mutant protein and its recombinant wild-type horse heart myoglobin counterpart were expressed from synthetic genes in Escherichia coli. Thermal denaturation of these two recombinant myoglobins, as studied by measurement of circular dichro...
Kakoi H, Gawahara H.Genetic polymorphism of equine apolipoprotein (APO) A4 was investigated using two-dimensional electrophoresis in four horse breeds, including Japanese native horses. A linkage relationship between the equine APOA4 and APOA1 structural loci was assumed from the segregation data of these loci in one family line of the Japanese Hokkaido native breed.
Goudet G, Bézard J, Duchamp G, Gérard N, Palmer E.Equine oocyte competence after in vitro maturation (IVM) was investigated in terms of the diameter of the follicle of origin and the stage of the estrous cycle, with three criteria of maturation: nuclear stage after DNA Hoechst staining, meiotic spindle morphology after tubulin immunocytochemical staining, and cortical granule localization after lectin labeling. Seven successive in vivo ultrasound-guided follicular punctures were performed on 10 cyclic saddle mares, alternatively at the end of the follicular phase (after induction of ovulation with a gonadotropin injection) and in midluteal ph...
Bowling AT, Eggleston-Stott ML, Byrns G, Clark RS, Dileanis S, Wictum E.A parallel testing of 4803 routine Quarter Horse parentage cases, using 15 loci of blood group and protein polymorphisms (blood typing) and 11 loci of dinucleotide repeat microsatellites (DNA typing), validated DNA markers for horse pedigree verification. For the 26 loci, taken together, the theoretical effectiveness of detecting incorrect parentage was 99.999%, making it extremely unlikely that false parentage would fail to be recognized. The tests identified incorrect parentage assignment for 95 offspring (2% of cases). Despite fewer loci, DNA typing was as effective as blood typing and, in ...
Hinrichs K, Williams KA.Horse oocytes with expanded (EX) cumuli appear to have greater meiotic competence than do horse oocytes with compact (CP) cumuli but are thought to come from atretic follicles. We evaluated the relationships among cumulus expansion, follicle viability, initial chromatin configuration, and meiotic competence of horse oocytes. Follicle walls were sectioned for histological examination, and the follicles were scraped to obtain the oocytes. Half of the oocytes were evaluated immediately and half were matured for 24 h in vitro. Cumulus expansion was significantly associated with follicle atresia. I...
Elliott J.Rings of equine digital vein examined under conditions of isometric tension recording constricted to alpha-adrenoceptor agonists with an order of potency of 5-bromo-6-[2-imidazolin-2-yl-amino]-quinoxaline bitartrate (UK 14304) = noradrenaline > 6-Allyl-2-amino-5,6,7,8-tetrahydro-4H-thiazolo-(4,5-d) azepine (BHT-920) > phenylephrine > dopamine > methoxamine. The maximum force generated was greatest for the non-selective agonist noradrenaline and lowest for the alpha2-selective agonist BHT-920 with the other agonists between these two extremes. Selective inactivation of alpha1-adreno...
Raudsepp T, Otte K, Rozell B, Chowdhary BP.Three genomic subclones derived from a phage clone containing the equine IGF2 gene were used to FISH map the gene on horse (ECA) and donkey (EAS) metaphase chromosomes. The gene mapped on ECA 12q13 band and is the first locus mapped to this horse chromosome. In donkey the gene mapped very terminal on the long arm of one small submetacentric chromosome that shows almost identical DAPI-banding pattern with ECA12. This is the first locus mapped in donkey genome. Cross species chromosome painting of equine metaphase chromosomes with human Chromosome (Chr) 11-specific probe showed homoeology of thi...
Huhtinen M, Peippo J, Bredbacka P.Embryo biopsy has been used to detect inherited disorders and to improve the phenotype by analyzing of linkages between marker loci and the desired characteristics. Unfortunately, early procedures required the removal of a large portion (one-half) of the embryo for analysis, and the transfer of bisected equine embryos has not been particularly successful. Recent discovery of the polymerase chain reaction (PCR) has made possible the detection of specific DNA sequences from only a few cells. We investigated whether the removal of a small biopsy would allow for successful PCR and normal embryonic...
Bailey E, Reid RC, Skow LC, Mathiason K, Lear TL, McGuire TC.Equine combined immunodeficiency disease (CID) is caused by homozygosity for an autosomal recessive gene. To identify linked markers for the disease, we studied a family segregating for the equine CID gene. A stallion and 19 of his CID-affected offspring were tested for marker segregation at 23 microsatellite DNA loci. His CID-affected offspring inherited only one of his two alleles at the HTG8 and HTG4 loci, namely HTG8-186 and HTG4-124, respectively. Lod scores for linkage to the CID gene using a theta of 0.01 were 5.34 for HTG8 and 2.37 for HTG4. The apparent genotypes also suggested linkag...
Papaioannou KZ, Murphy RP, Monks RS, Hynes N, Ryan MP, Boland MP, Roche JF.An objective double-staining method was developed to evaluate viability and mitochondrial function of stallion spermatozoa using flow cytometry. Sperm viability was assessed by propidium iodide (PI) exclusion, and mitochondrial function was measured by the intensity of rhodamine 123 (R123) fluorescence. Flow cytometry estimates of sperm viability measured by PI were equivalent (P > 0.05) to estimates made using Hoechst 33258 stain and fluorescent microscopy (% dead: 25 +/- 2.4 vs 21.5 +/- 3.5). The use of both PI and R123 was validated by addition of various proportions of freeze-shocked (m...
Takai S, Takeda K, Nakano Y, Karasawa T, Furugoori J, Sasaki Y, Tsubaki S, Higuchi T, Anzai T, Wada R, Kamada M.To investigate the emergence of rifampin resistance in Rhodococcus equi strains isolated from foals and their environment in Japan, we compared the in vitro antimicrobial susceptibilities to rifampin of 640 isolates from 64 infected foals and 98 soil isolates from their horse-breeding farms. As a control, 39 human isolates from patients with and without AIDS were also tested for susceptibility to rifampin. All of the isolates showed rifampin sensitivity, except isolates from one infected foal and two patients with AIDS that showed rifampin resistance. To investigate the emergence of rifampin-r...
Hultén C, Sletten K, Foyn Bruun C, Marhaug G.Serum amyloid A (SAA) from acute phase horse serum was isolated using hydrophobic interaction chromatography, gel filtration and ion exchange chromatography. Three SAA isoforms with different isoelectric points, i.e. SAA pI 8.0, SAA pI 9.0 and SAA pI 9.7, were identified by two-dimensional electrophoresis and further characterized with amino acid sequence analysis. These isoforms were found in similar concentrations in all animals investigated, with SAA pI 9.7 constituting about half of the total SAA content. Partial amino acid sequence analysis verified the previously published heterogeneous ...
Morley PS, Townsend HG.A survey was performed to evaluate the reproductive performance of Thoroughbred mares, estimate risks of dystocia and of morbidity and mortality in foals during the first year post partum and their physical acceptability at age one year. The study population consisted of registered Thoroughbred mares and their foals owned by residents of 4 Western Canadian provinces. Owners were identified using information obtained from the North American Jockey Club, and questionnaires were mailed regarding mares bred in 1988 and their foals born in 1989. Eighty-three per cent of mares were reported to be pr...
Matsuda M, Miyazawa T, Ishida Y, Moore JE.The genomic DNA of eight strains of Taylorella equigenitalis, isolated from seven Norwegian Trotters and a Norwegian pony with contagious equine metritis in Norway, was examined by pulsed-field gel electrophoresis after separate digestions with two restriction enzymes, namely, ApaI and NotI. The respective electrophoretic profiles of the fragments were essentially identical but differed from those of T. equigenitalis NCTC11184T and Kentucky 188. They also exhibited slight differences from profiles obtained from Japanese isolates. These results may possibly suggest a common genotype and a commo...
Zheng YH, Sentsui H, Nakaya T, Kono Y, Ikuta K.Equine infectious anemia virus (EIAV) is a good model for studying mechanisms generating escaped retrovirus variants. We previously sequenced the entire gp90-encoding region of 22 cDNA clones obtained from five antigenically distinct isolates (F1V to F5V) recovered during febrile episodes in horse 493 experimentally infected with the Japanese virulent EIAV strain V70. The results showed that the mutations occurred in the principal neutralizing domain (PND) by insertions/duplications. In this study, we further characterized the PND of virus isolates sequentially recovered during 22 febrile epis...
Yamanouchi K, Hirasawa K, Hondo E, Hasegawa T, Ikeda A, Sugawara Y, Matsuyama S, Miyazawa K, Sawasaki T, Tojo H, Tachi C, Takahashi M.The expression of inhibin alpha-subunit mRNA in equine fetal gonads during pregnancy (Days 90 to 300) was examined by means of Northern blot analysis. In all samples examined, a single species of transcript was detected at the size of 1.5 kb. A digoxigenin-labeled antisense cRNA probe specific to equine inhibin alpha-subunit was synthesized and in situ hybridization analysis to locate the inhibin alpha-subunit mRNA positive cells was performed using frozen tissue sections of equine fetal ovary (day 150 of pregnancy) and equine fetal testis (day 180 of pregnancy). In the fetal ovary, positive c...
Ryan PL, Klonisch T, Yamashiro S, Renaud RL, Wasnidge C, Porter DG.Immunoreactive, chromatographic and molecular techniques were used to study the expression of relaxin in mare ovaries at different stages of the oestrous cycle. Relaxin in follicular fluid ranged from 1.6 to 2.5, from 1.4 to 5.2, from 1.2 to 6.7 and from 1.0 to 3.5 ng ml-1 in small ( 2 3 4 cm) follicles, respectively, and total content of fluid relaxin per follicle increased (P < 0.05) with follicular size. When subjected to reverse phase HPLC analysis, follicular fluid yielded absorbance profiles corresponding closely to those of purified relaxin, and immunoreactive peaks in follicular f...
Reubel GH, Studdert MJ.We report the first nucleotide sequence data on equine adenovirus 2 (EAdV2) which corroborate on the molecular level that EAdV2 is distinct from equine adenovirus 1 (EAdV1). Based on sequence homology with Eadv1 the hexon gene of Eadv2 was identified. HindIII restriction fragments containing the hexon and eight other viral genes were cloned into the plasmid pUC19 and the nucleotide sequence of the hexon and the 23K proteinase genes completely determined. Amino acid (aa) comparison of sequence fragments with published adenovirus (AdV) proteins identified the genes for the E1B/19K, IVa2, DNA pol...
Rousseaux CG, Futcher KG, Clark EG, Naylor JM.Two cases of cauda equina neuritis are compared and contrasted. Neurological deficits of the tail and perineum were noted and functional deficits were seen in gait, urination, defecation and cranial nerve function. Lesions consisted of nonsuppurative inflammation of the nerve trunks and proliferation of the perineurium of the cauda equina. Cranial nerve involvement in one case supported a diagnosis of polyneuritis equi rather than cauda equina neuritis. The possible etiologies and pathogenesis of this disease are discussed.
Speirs VC, Wrigley R.Degenerative arthritis of the coxofemoral joints in the Norwegian Dole horse characterised by lameness, erosion of the joint cartilages, deposition of new bone at the attachments of the joint capsules and the teres ligaments, stretching and rupture of the teres ligaments and eventually luxation has been described and is considered to be due to hip dysplasia and to be inherited (Haakenstad, 1953). More recently there have been 2 reports of unilateral degenerative arthritis and subluxation in young horses (Jogi and Norberg, 1962; Davidson, 1967). In the last 8 years there have been 12,051 equine...
Weitkamp LR.Polymorphism of equine Gc protein was demonstrated by immunofixation electrophoresis with a goat anti-human Gc antibody. Three different phenotypes, F, FS and S, were found. Family data supported the genetic theory of two autosomal codominant alleles, GcF and GcS. Both alleles occurred in Standardbred, Thoroughbred and Arabian horses and in Shetland ponies. A frequency of 0.23 for GcS in the American Standardbred horse indicates the system should be useful for problems of identification and parentage.
Osborne C.A 7-year-old Arabian gelding was presented with a 9-month history of progressive patches of nonpruritic scaling, crusting, alopecia, and leukoderma of the periocular areas and muzzle, becoming generalized over time. Sebaceous adenitis was diagnosed on histopathologic examination. Lesions resolved without treatment, coinciding with regression of a sarcoid on the neck. Un cheval Arabe castré âgé de 7 ans a été présenté pour une histoire de 9 mois de plaques de desquamation, de croutes, d’alopécie et de leucodermie sur les régions périoculaire et sur le nez, devenant généralisées ...
Riggs MW.Currently recognized equine immune deficiency disorders include failure of passive colostral immunoglobulin transfer, combined immunodeficiency, selective IgM deficiency, transient hypogammaglobulinemia, and agammaglobulinemia. Additional equine immune deficiency disorders probably exist. Immune deficiency should be suspected in any horse experiencing persistent or recurrent infections that are not responsive to conventional therapy.
Bailey KL, Kinsel MJ, Connell KA.Multiple cutaneous masses developed in the perineum of a 14-year-old Saddlebred stallion over a period of approximately 5 years. Clinically, the masses ranged in size from 3- to 9-mm diameter and were not ulcerated, painful, or pruritic. Three of the masses were surgically excised and submitted for microscopic evaluation. The masses were dome shaped to nodular, located in the superficial dermis, and composed of haphazardly arranged bundles of plump spindle-shaped cells. The tumor cells immunoreacted with monoclonal antibodies directed against desmin, muscle-specific actin, and smooth muscle ac...
Pierrot M, Astier JP, Astier M, Charles M, Drenth J.A detailed study of the crystallization of hog and horse colipases has been undertaken. Several crystallographic varieties have been obtained and a 0.3-nm resolution structure determination is actually in progress. The sequence of the A form of horse colipase (one methionine) is given. From spectrophotometric experiments and sequence comparisons, the involvement of the aromatic residue in position 52 in the micelle binding site has been demonstrated.
Brooks SA, Bailey E.Inflammatory damage to the digital laminae, a structure responsible for suspension of the distal skeleton within the hoof capsule, results in a painful and often life-threatening disease in horses called laminitis. There can be many diverse causes of laminitis; however, previous work in the horse has suggested that in each case, the inflammation and resulting tissue damage is consistent with the action of mediators released from mast cells (MC), as well as the downstream consequences of their activation. The recent development of molecular genetics tools to characterize cells based on their tr...
Alm YH, Sukjumlong S, Kindahl H, Dalin AM.Sex steroid hormone receptors have been identified in the adrenal gland of rat, sheep and rhesus monkey, indicating a direct effect of sex steroids on adrenal gland function. Methods: In the present study, immunohistochemistry using two different mouse monoclonal antibodies was employed to determine the presence of oestrogen receptor alpha (ERalpha) and progesterone receptor (PR) in the mare adrenal gland. Adrenal glands from intact (n = 5) and ovariectomised (OVX) (n = 5) mares, as well as uterine tissue (n = 9), were collected after euthanasia. Three of the OVX mares were treated with a sing...
Finding EJT, Elliott J, Harris PA, Menzies-Gow NJ.Previously laminitic (PL) ponies are reported to have higher blood pressure than non laminitic (NL) ponies. This relative hypertension may be related to endothelial cell dysfunction, similar to humans with metabolic syndrome. To investigate the relationship between laminitis predisposition and endothelial dysfunction, the effect of nitric oxide synthase (NOS) inhibition on the change in circulating nitric oxide (NO) concentrations and systemic blood pressure (BP) was determined. An intravenous NO sensor was used to measure changes in blood NO concentration during and after intravenous infusion...
Deutsch HF, Bray RP.A study of the erythrocyte carbonic anhydrases of 219 American ponies and 76 riding horses has revealed the presence of five variants of the low-activity CA B isozyme and two variants of the high-activity CA C isozyme. The previously undetected variant of CA C was found only in the pony population and had an allele frequency of 8.9%. A family study of animals possessing the CA B variant A2 showed an unexpected high frequency of inheritance.