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.
Blake CC, Evans PR, Scopes RK.The single peptide chain of 3-phosphoglycerate kinase is folded into two distinct globular units, only one of which seems to be involved in substrate binding.
Poppie MJ, McGuire TC.Foals with combined immunodeficiency (CID), a fatal genetic defect in the production of both B and T lymphocytes, are born without immunoglobulins and are unable to synthesise them. CID foals receiving immunoglobulins via the dam's colostrum may live up to four months of age. Those CID foals with failure of passive transfer (FPT) die at a much earlier age. The occurrence of CID is of value in studying passive transfer of immunoglobulins, as no confusion exists as to when passive transfer ends and active synthesis of immunoglobulins begins. A high correlation has been found between early foal d...
Magnuson NS, Decker DM, Perryman LE.1. Activities of S-adenosylhomocysteine (AdoHcy) hydrolase were measured in tissues of horses with severe combined immunodeficiency. No decrease in activity of the enzyme was detected.
2. The activity in erythrocytes was 14.2 ± 9.2 nmol AdoHcy formed/min/g hemoglobin and in fibroblasts it was 28.0 ± 7.9 nmol AdoHcy formed/min/108 cells.
3. Km values were obtained for hemolysates (0.77 μM) and for fibroblast lysates (0.59 μM).
4. Effects of 2′-deoxyadenosine on enzyme inactivation were studied.
Cabañes FJ, Abarca L, Bragulat MR, Calvo MA.The ability of 17 strains of Epidermophyton to perforate hair in vitro using the Ajello & Georg's test procedure and a modification of Lu's method has been studied. Following the Ajello & Georg's test procedure only E. stockdaleae perforated hair. Sporadically some strains of E. floccosum perforated horse hair. We noted as well unusual perforations originated from inside to outside of the hair. By the other technique, all strains, excepting E. floccosum var. nigricans in child hair, perforated hair. E. floccosum showed these perforations later than E. stockdaleae.
Valentine BA, Hedstrom OR, Miller WH, Scott DW, Mathies S.A blue roan Percheron foal was born with poorly circumscribed patchy alopecia of the trunk and legs. Teeth and hoof development were normal. Alopecia was progressive, becoming almost complete by 1 year of age. Histopathological findings in a skin biopsy obtained at 7 months of age were consistent with severe follicular hypoplasia. Sebaceous glands, epitrichial sweat glands and arrector pilae muscles were normal. The horse is alive and otherwise well at 6 years of age, although adult stature is considered small for this breed. The clinical history and histopathological findings are most consist...
Fatemi-Nainie S, Anderson LW, Cheevers WP.MC-1 is an equine sarcoid-derived cell line which spontaneously releases a retrovirus possessing genomic sequence homology with an inducible endogenous retrovirus of normal equine cells. A complete characterization of MC-1 tumor cells was undertaken, including morphology, growth kinetics, and saturation density, selective growth in semisolid media, uptake of 2-deoxyglucose, and tumorigenicity in athymic nude mice. MC-1 cells, in contrast to normal equine dermal fibroblasts, exhibit all of the characteristics of malignantly transformed cells.
Kakoi H, Gawahara H, Miura N.An unusual D system phenogroup appeared in one family line of Anglo-Arab horse. This phenogroup probably originated from inheritance with an apparent absence of factors and was transmitted through successive generations.
Loch WE, Swantner LD, Anderson RR.Mean weight of 20 Quarter Horse placentas on a wet basis was 3.27 +/- 0.17 kg. These placentas contained mean dry fat-free tissue, DNA, RNA and collagen weights of 411 +/- 24 g, 11.2 +/- 0.6 g, 12.4 +/- 0.7 g and 210 +/- 15 g, respectively. In Ponies and Quarter Horses, there was a trend towards a decrease in these 4 values as gestation length increased. Analysis of placentas of Ponies fed different amounts of endophyte fungus-infected fescue seed showed that weight of dry fat-free tissue increased with increasing percentages of fescue seed in the diet. Diets containing fescue seed resulted in...
McClure JJ, Koch C, Powell M, McClure JR.Associations were sought between ELA A1-A10 and W11 antigens and the presence of laryngeal hemiplegia, arytenoid chondritis, umbilical hernias and cryptorchidism in Thoroughbreds and/or Quarter Horses. No significant associations were detected between laryngeal hemiplegia and any ELA antigen in Thoroughbreds. The association between arytenoid chondritis and A9 was significant with a relative risk (RR) of 15.6 and aetiologic fraction (EF) of 0.80 in Thoroughbreds. There were apparent associations based on RR between A4 and A5 in Quarter Horses with umbilical hernias (RR = 7.5 and 6.1 respective...
Malek G, Richard H, Beauchamp G, Laverty S.Focal bone microcracks with osteoclast recruitment and bone lysis, may reduce fracture resistance in racehorses. As current imaging does not detect all horses at risk for fracture, the discovery of novel serum biomarkers of bone resorption or osteoclast activity could potentially address this unmet clinical need. The biology of equine osteoclasts on their natural substrate, equine bone, has never been studied in vitro and may permit identification of specific biomarkers of their activity. Objective: (1) Establish osteoclast cultures on equine bone, (2) Measure biomarkers (tartrate resistant ac...
Kay PH, Dawkins RL, Bowling AT, Bernoco D.Plasma or serum samples from 12 Arabian and 181 standardbred horses have been typed using an immunofixation technique to determine electrophoretic polymorphism of equine third complement component (C3). Six distinctly different electrophoretic patterns of equine C3 have been recognized thus far. SDS PAGE analysis of equine C3/anti C3 complexes revealed that the submolecular structure comprised an alpha chain and beta chain of molecular weights approximately 118,000 and 63,000 daltons respectively. The molecular weights of the alpha and beta chains were similar in all electrophoretic variants t...
da Silva AC, Brass KE, da Silva Loreto E, Vinocur ME, Pozzobon R, da Silva Azevedo M.The aim was to detect the presence of polymorphisms at exons 1, 2, 3 and 4 of the Spi2 gene, and evaluate a possible association between them and recurrent airway obstruction (RAO) or inflammatory airway disease (IAD) in thoroughbred horses, through single-strand conformational-polymorphism (SSCP) screening. Although polymorphism was not detected in exons 1, 2 and 3, three alleles and six genotypes were identified in exon 4. The frequencies of allele A (0.6388) and genotype AA (0.3888) were higher in horses affected by RAO, although no association was found between polymorphism and horses with...
Harasawa R, Higashi T.Viral DNA obtained from the equine adenovirus propagated in equine transitional cell carcinoma (ETCC) cells and in equine fetal dermis cells were compared by cleaving with isoschizomeric restriction enzymes, HpaII and MspI, and then electrophoresed in 1.4 per cent agarose gels. Differences between the HpaII and MspI cleavage patterns were evident in viral DNA obtained only from the equine adenovirus propagated in ETCC cells, suggesting site specific methylation at CpG sequences.
Sharma S, Davies Morel MC, Dhaliwal GS, Dadarwal D.Ultrasonographic pregnancy records of 195 mares from six Thoroughbred stud farms, over a period of 7 years were retrospectively analysed to assess the effect of various factors on embryonic vesicle (EV) fixation pattern and pregnancy outcome. Of the total of 746 pregnancies analysed, significantly (p < 0.01) more EV fixations were evident in the right uterine horn than in the left (53.35% vs 46.65% respectively). There was no significant effect of either, the side of ovulation, or age of the mare, on the side of EV fixation. However, EV fixation, was significantly (p < 0.001) more likely...
Kay PH, Dawkins RL, Bowling AT, Bernoco D.A cDNA probe to the alpha subunit of the murine acetylcholine receptor was used to demonstrate restriction fragment length polymorphism in an acetylcholine receptor gene in the horse. Three different patterns of polymorphism have been observed with fragment sizes of 4.3 and 2.9 kilobases (kb) (pattern 1), 4.3 and 2.5 kb (pattern 2) and 4.3, 2.9 and 2.5 kb (pattern 1,2). Analysis of a three generation pedigree has suggested that patterns 1 and 2 represent two allelic forms of the gene encoding the alpha subunit of the acetylcholine receptor. These data provide a basis for the examination of the...
McClure JJ.Although relatively little is known about autoimmunity and autoimmune mechanisms specifically in horses, the similarities between clinical syndromes with identifiable effector mechanisms in horses and other species suggest that comparable mechanisms may be applicable. Our understanding of equine autoimmunity undoubtedly will benefit from the extensive study of autoimmunity in other species.
Borin G, Filippi B, Stivanello D, Marchiori F.A solution synthesis of Z-Gly-Thr-Lys (Tfa)-Met-Ile-Phe-Ala-Gly-Ile-Lys (Tfa)-Lys (Tfa)-NHNH-Boc corresponding to the sequence 77-87 of horse heart cytochrome c is described. The protected undecapeptide was obtained from intermediate hepta- and tetrapeptide fragments by an azide coupling.
Lear TL, Trembicki KA, Ennis RB.Giemsa-11 (G-11) staining and in situ hybridization were used to identify the equine chromosome complement of horse x mouse somatic cell hybrids. The presence of horse chromosomes in somatic cell hybrids was determined by differential G-11 staining. The slides were then destained and hybridized with biotinylated total horse (Equus caballus) genomic DNA without suppression. Fluorescence detection permitted rapid confirmation of horse chromosomal DNA in the hybrid cells.
Klukowska-Rötzler J, Marti E, Bugno M, Leeb T, Janda J.Thymic stromal lymphopoietin (TSLP) is a novel cytokine that plays a central role in T helper 2 (Th2) cell differentiation and allergic inflammation. It is predominantly expressed by epithelial cells, and its expression is increased in patients with atopic dermatitis and asthma. Mice overexpressing TSLP in the skin develop allergic dermatitis and mice overexpressing TSLP in lungs develop asthma-like disease. However, it is not known whether TSLP plays an important role in equine allergies. Therefore, we cloned and sequenced the complete translated region of equine TSLP gene and measured its ex...
Russo AM, Ebermayer SE, Mancebo OA, Monzón CM.The fungus Curvularia verruculosa, which produces eumycotic mycetomas, was isolated from skin of horses with granulomatous lesions on the legs. The isolation was made in Sabouraud dextrose agar medium. The horses came from Comandante Fontana suburb, Formosa-Argentina. This finding would be the first report of Curvularia in horses in Argentina.
Poole AW, Heath MF, Sage SO, Evans RJ.Equine platelets in platelet-rich plasma were incubated with the fluorescent indicator dye, Fura-2-AM (Fura-2-acetoxymethyl ester) and the degree of loading of the cells with the dye and the extent of hydrolysis of the ester was assessed by quantitative fluorimetry and by thin-layer chromatography respectively. Under these conditions the cells loaded poorly with Fura-2 to a concentration of 4 microM. The technique was validated by demonstrating adequate loading of human platelets with Fura-2, to a concentration of 250-300 microM, using the same method. The removal of plasma from the extracellu...
Joppich-Kuhn R, Luisi PL.The interaction between horse liver alcohol dehydrogenase and the oxidized and reduced forms of the 3-thionicotinamide--adenine dinucleotide coenzyme analogues (sNAD and sNADH) has been investigated by ultraviolet absorption, fluorescence and circular dichroism. The fluorescence of sNADH is enhanced when bound to the enzyme, and the protein fluorescence is quenched by both sNADH (60--65%) and sNAD (65%). The possible origin of the larger quenching produced by sNAD with respect to that of NAD is discussed. Coenzyme dissociation constants have been determined by monitoring the quenching of the p...
Szczerba-Turek A, Siemionek J, Wasowicz K, Szweda W, Raś A, Platt-Samoraj A.BPV-1 is now recognized as a main etiological agent of equine sarcoids. The etiopathogenesis of the equine sarcoids is equivocal and is not yet fully understood. The aim of the present study was to analyse a partial sequence of the L1 gene of BPV associated with equine sarcoids in Polish horses. After clinical diagnosis, 40 skin lesions obtained from 29 horses were collected. The amplicons of a fragment of BPV L1 DNA were detected using PCR with MY09/MY11 primers in 31 specimens. All of them were recognized as BPV-1. Phylogenetic analysis has allowed the amplicons of partial L1 gene to be divi...
Hansmann F, Herder V, Ernst H, Baumgärtner W.This report is the first description of a spinal epidermoid cyst (EC) in a SJL mouse and gives an overview on the occurrence of ECs in animals including dogs, horses, mice and rats. The EC was not detected grossly and the mouse did not display clinical signs or an altered rotarod performance. Microscopically, there was an oval cyst lined by stratified squamous epithelium that was attached to the dorsolateral meninges and caused moderate compression of the adjacent lumbar spinal cord. ECs in mice and rats are mainly located in the caudal part of the spinal cord with a variable, strain-dependent...
Kotsiubenko AA.The indexes of standardized deviations by the measured characters (probits) are expedient to be used for distribution of horses according to classes M-, M0 and M+, under these conditions one can select individuals M0 for to rise their capacity for work and expressivity of the type of breed.
Marquardt SA, Wilcox CV, Burns EN, Peterson JA, Finno CJ.Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first two years of life, resulting in bilateral symmetric ataxia. A missense mutation (chr3:71,917,591 C > T) within adhesion G protein-coupled receptor L3 (ADGRL3) was recently associated with risk for EDM in the Caspian breed. In order to confirm these findings, genotyping of this missense mutation, along with the three other associated single nuc...
McKellar GM, Collins AP.The surgical correction of midfacial deformities of the horse have rarely been undertaken. This article describes the successful management of a submucous cleft of the maxilla in a young colt. Details of the operative and perioperative medical and surgical management are described. The horse, now 5 years of age, has sired eight normal progeny.
Cothran EG, Henney PJ, King JA.The inheritance of the equine Tf F3 allele was examined in 39 parent-offspring combinations. For 26 of the cases the allele inherited by the offspring from the heterozygous parent could be determined. The proportion of individuals that inherited the F3 variant compared to the alternative allele was exactly 1:1. In five cases the parental phenotype was identical to that of the offspring. For the remaining eight cases the parent was homozygous for the F3 allele and all offspring had the F3 allele. The results were consistent with Mendelian inheritance.
Braun U, Förster M, Schams D.A case of intersexuality in an arabo-haflinger horse is described. The external genitalia consisted of mammary gland, vulva and hypertrophic clitoris; the inner genitalia of rudimental testes. The sexual behaviour was typically male-like. The chromosome analysis showed the female karyotype 64,XX. The presence of testes in a genetically female animal is explained by translocation of an Y-chromosome fragment bearing the gene for the H-Y-antigen.
