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.
Blackall PJ, Bisgaard M, McKenzie RA.The objective of this work was to perform a comprehensive phenotypic characterisation of 16 isolates of bacteria previously identified as Actinobacillus equuli. Methods: The 16 isolates that had been obtained from Australian animals--15 from horses and one from a rabbit--were compared with reference strains of A equuli, A capsulatus, Pasteurella caballi and Bisgaard Taxa 9 and 11. Results: The characterisation study demonstrated that only nine of the isolates were A equuli. The other isolates were identified as A capsulatus (the isolate from rabbit), P caballi (one isolate), Bisgaard Taxon 11 ...
Meier HP, Gertsch U, Kohler S.Twin pregnancies are a serious problem in stud medicine as they terminate in most cases in abortion, stillbirth or the delivery of dead or weak and deformed foals. In recent years, the introduction of sonography has greatly improved the management of mares with twin conceptuses, in particular monitoring the phenomenon of spontaneous embryo reduction to a single vesicle. This allows supervision of pregnancy with relatively little expenditure and loss of time. We document the spontaneous reduction to single vesicles of unilateral twin pregnancies in a draught- and a warmblood-mare. In both mares...
Schrenzel MD, King DP, McKnight ML, Ferrick DA.Horse (Equus caballus) immunoglobulin mu chain-encoding (IgM) variable, joining, and constant gene segments were cloned and characterized. Nucleotide sequence analyses of 15 cDNA clones from a mesenteric lymph node library identified 7 unique variable gene segments, 5 separate joining segments, and a single constant region. Based on comparison with human sequences, horse variable segments could be grouped into either family 1 of immunoglobulin (Ig) clan I or family 4 of Ig clan II subclan IV. All horse sequences had a relatively conserved 16 base pair (bp) segment in framework 3 which was reco...
Reubel GH, Studdert MJ.Based on sequence homology with human adenovirus 2 (HAdV2), the hexon gene of equine adenovirus 1 (EAdV1) was identified. HindIII restriction fragments containing the hexon and other viral genes were cloned into the plasmids pUC19 and pBlueScript SK(-) and sequenced. The nucleotide sequence of the hexon gene was completely determined and partial sequence data were obtained for seven other EAdV1 genes. Amino acid (aa) sequence comparison with published adenovirus (AdV) proteins identified the genes for the IIIa, penton, pVII, PVI, 23K proteinase, DNA binding and 100K proteins. The eight EAdV1 g...
Sugahara Y, Matsumura T, Kono Y, Honda E, Kida H, Okazaki K.Heparin extensively inhibited infection of MDBK cells by equine herpesvirus 1 (EHV-1) strains adapted to bovine cells or hamsters, while the reagent merely reduced infectivity of strains passaged only in equine cells. The gC of two strains adapted to non-equine cells seemed to have higher affinity for heparin, although the reagent bound to both the gC and gB of all strains tested. Amino acid substitutions of the gC of the EHV-1 strains adapted to non-equine cells converged on the hydrophilic regions, amino acid residues 92 to 175, resulting in the glycoprotein becoming more cationic. These res...
Miteva MA, Kossekova GP, Villoutreix BO, Atanasov BP.The present work shows the application of an optical label pyridoxal phosphate (PLP) for the experimental determination of local electrostatic potentials in singly substituted cytochromes c modified by pyridoxal phosphate at Lys 79 (PLP-Lys-79-cyt.c) or at Lys 86 (PLP-Lys-86-cyt.c). PLP has also been used to calculate the pKa values of all ionizable groups and the electrostatic potentials in the modified proteins and to analyse their properties. The experimental pKa values for the pyridine nitrogen and phenolic hydroxyl of the bound label were obtained from pH-dependent absorbance and fluoresc...
Adeyefa CA, McCauley JW, Tomori O.The complete amino acid sequences of the hemagglutinin (HA) glycoprotein of three equine-2 influenza viruses from tropical Africa are presented in comparison with that of a well characterized European equine-2 virus (Suffolk/89) and a consensus sequence from the database. The sequences of the tropical African viruses were deduced from the complete nucleotide sequences of their HA genes reported earlier. Mutational changes in the nucleotide sequences resulted in amino acid changes in the HA which led to the introduction of a new asparagine-linked (N-linked) glycosylation site in two viruses. Th...
Woolf CM.Arabian bay horses manifest, on the average, more common white markings in their hind legs than their forelegs (anteroposterior asymmetry) and more common white markings in their left legs than their right legs (directional asymmetry). To determine if genetic variation exists for these types of asymmetry, the phenotypic response was studied in bay foals when their dams and sires were selected for the directions of fore-hind and left-right differences. In the fore-hind studies, the quantitative shifts in the bay foals were in the direction specified by the selection scheme and the observed devi...
Gregoire C, Rosinski-Chupin I, Rabillon J, Alzari PM, David B, Dandeu JP.The gene encoding the major horse allergen, designated Equus caballus allergen 1 (Equ c1), was cloned from total cDNA of sublingual salivary glands by reverse transcription-polymerase chain reaction using synthetic degenerate oligonucleotides deduced from N-terminal and internal peptide sequences of the glycosylated hair dandruff protein. A recombinant form of the protein, with a polyhistidine tail, was expressed in Escherichia coli and purified by immobilized metal affinity chromatography. The recombinant protein is able to induce a passive cutaneous anaphylaxis reaction in rat, and it behave...
Bousfield GR, Butnev VY, Gotschall RR, Baker VL, Moore WT.There are two species for which both pituitary and placental gonadotropins are readily available, humans and horses. The human gonadotropins are better characterized than equine gonadotropins. Nevertheless, the latter are very interesting because they provide exceptions to some of the general structure-function principles derived from studies on human and other mammalian gonadotropins. For example, separate genes encode the hLH beta and hCG beta subunits while a single gene encodes eLH beta and eCG beta. Thus, eCG and eLH differ only in their oligosaccharide moieties and eLH is the only LH tha...
Reinert M, Calvete JJ, Sanz L, Mann K, Töpfer-Petersen E.The primary-structure of HSP-7, a 14-kDa protein isolated from stallion seminal plasma, has been determined, HSP-7 belongs to the spermadhesin protein family, shares 98% sequence identity with the boar seminal plasma protein AWN, and, like its boar homolog, displays zona-pellucida-binding activity. Despite these conserved structural and functional features, the equine and porcine spermadhesins differ in their topography on spermatozoa.
The Journal of physiologyDecember 1, 1996
Volume 497 ( Pt 2), Issue Pt 2 349-364 doi: 10.1113/jphysiol.1996.sp021773
Hanna WJ, Tsushima RG, Sah R, McCutcheon LJ, Marban E, Backx PH.1. The Na+ channel mutation associated with equine hyperkalaemic periodic paralysis (HPP) affects a highly conserved phenylalanine residue in an unexplored region of the alpha-subunit. This mutation was introduced into the rat skeletal muscle Na+ channel gene at the corresponding location (i.e. F1412L) for functional expression and characterization in Xenopus oocytes. 2. In comparison with wild-type (WT) channels, equine HPP channels showed clear evidence for disruption of inactivation: increased time-to-peak current, slowed rates of whole-cell current decay, significant increases in sustained...
Marklund L, Moller MJ, Sandberg K, Andersson L.The melanocyte-stimulating hormone receptor gene (MC1R) is the major candidate gene for the chestnut coat color in horses since it is assumed to be controlled by an allele at the extension locus. MC1R sequences were PCR amplified from chestnut (e/e) and non-chestnut (E/-) horses. A single-strand conformation polymorphism was found that showed a complete association to the chestnut coat color among 144 horses representing 12 breeds. Sequence analysis revealed a single missense mutation (83Ser-->Phe) in the MC1R allele associated with the chestnut color. The substitution occurs in the second ...
Crossett B, Allen WR, Stewart F.Large quantities of an unusual 19 kDa protein (p19) are secreted into the lumen of the uterus of the mare (Equus caballus) during the oestrous cycle and early pregnancy. p19 associates strongly with the acellular capsule that surrounds the young horse conceptus and is believed to be important in maintaining pregnancy. Here we report the complete cDNA sequence encoding p19, its expression patterns in horse tissues and a Southern blot analysis of the gene in horse DNA. The predicted amino acid sequence of the p19 cDNA demonstrated a signal peptide of 18 residues and a mature protein of 162 resid...
Madden CR, Shih DS.Sequential passage of the tissue culture-adapted prototype strain of EIAV in fetal donkey dermal (FDD) cell cultures generated a virus stock which exhibits cytopathic effects in FDD cell cultures. In this study, the effects of the long terminal repeat (LTR) region on virus replication and cytopathogenicity were examined. The FDD-adapted virus LTR was found to contain a number of base pair mutations and a large insertion within the U3 region in comparison with the previously characterized LTR, lambda12. Transient gene expression studies showed that basal promoter activity, in FDD cell cultures,...
Mawdsley A, Kelly EP, Smith FH, Brophy PO.A linear assessment trait evaluation system is proposed to allow quantitative description of the static conformation of the horse. Measurements were made on 27 selected traits. The system was tested initially for repeatability of measurements on 4 horses. Twenty-one of the selected traits were satisfactory and 6 proved unsatisfactory in terms of reproducibility. A population of 101, superior 2- and 3-year-old Thoroughbreds and 19 premium Thoroughbred stallions were similarly assessed. More than 65% of the traits exhibited large (CV > 10%) phenotypic variation within the sampled population. ...
Ball BA.There are considerable differences between mammalian species in the distribution and activity of ciliated cells within the oviduct, and limited information is available concerning either the distribution or activity of cilia within the equine oviduct. Patterns of ciliary activity were characterized in the ampulla and isthmus of oviducts recovered at 2 d after ovulation from 10 mares, and scanning electron microscopy was used to examine regional differences in the distribution of cilia in oviducts from 3 of these mares. Based upon the motility of 15 microm latex microspheres, ciliary activity w...
Lyons ET, Tolliver SC, Drudge JH, Stamper S, Swerczek TW, Granstrom DE.Critical tests (91) were done between 1977 and 1992 in Shetland ponies to evaluate drug susceptibility and population dynamics (present paper) of endoparasites. The test ponies, most less than 1 year old, were from a herd where older animals were treated every 8 weeks initially with cambendazole (CBZ) (1974-1978) and then with oxibendazole (OBZ) (1978-1992). Previous field test data (1974-1992) on older ponies in the breeding herd indicated the presence of benzimidazole (BZ) resistant small strongyles. Data on population dynamics from the present critical tests indicated that 28 species of sma...
Cheng FP, Fazeli A, Voorhout WF, Marks A, Bevers MM, Colenbrander B.Peanut agglutinin (PNA) was used to assess the sperm acrosomal status and the acrosome reaction during gamete interaction in the equine species. PNA exclusively binds to the outer acrosomal membrane of stallion spermatozoa, as was established by transmission electron microscopy. Fluorescein isothiocyanate-PNA (FITC-PNA) labeling was used to monitor sperm acrosomal changes during a prolonged incubation period of 24 hours and during a 2-hours incubation in the presence of 5 microM calcium ionophore A23187. In addition, after a 4-hours preincubation in SP-TALP medium, sperm samples were incubated...
Kallio PT, Tsai PS, Bailey JE.Expression of a gene encoding hemoglobin (VHb) from the aerobic bacterium Vitreoscilla sp. in several organisms, including Escherichia coli, has been shown to improve microaerobic cell growth and enhance oxygen-dependent product formation. The suitability of VHb to enhance microaerobic metabolism has been suggested to depend on its unusual oxygen binding characteristics. To examine whether hemoproteins of other origins can also elicit the positive effects VHb exerts in microaerobic E. coli cells, we subcloned the genes encoding Vitreoscilla VHb, horse heart myoglobin (HMb), and yeast flavohemo...
Xu X, Gullberg A, Arnason U.The nucleotide sequence of the complete mitochondrial genome of the donkey, Equus asinus, was determined. The length of the molecule is 16,670 bp. The length, however, is not absolute due to pronounced heteroplasmy caused by variable numbers of two types of repetitive motifs in the control region. The sequence of the repeats is (a) 5'-CACACCCA and (b) 5'-TGCGCGCA, respectively. The order of (a) and (b) can be expressed as {n[2(a)+(b)]+m(a)}. In 32 different clones analyzed the number of n and m ranged from 0 to 9 and 1 to 7. The two rRNA genes, the 13 peptide-coding genes, and the 22 tRNA gene...
de la Rúa-Domènech R, Wiedmann M, Mohammed HO, Cummings JF, Divers TJ, Batt CA.The cDNA encoding the equine copper/zinc superoxide dismutase (SOD1) was cloned from leukocyte total RNA from healthy horses and its nucleotide (nt) sequence was determined. We further sequenced the SOD1 gene from 16 horses diagnosed with equine motor neuron disease (EMND) and eight unrelated, clinically normal horses to determine if this disease, similar to amyotrophic lateral sclerosis (ALS) in humans, is linked to SOD1 mutations. The 465-bp SOD1 coding region in the horse encodes 153 amino acid (aa) residues. Equine SOD1 exhibited 81.8 and 79.9% sequence identity to the human homolog at the...
Kato H, Youn HY, Ohashi T, Watari T, Goitsuka R, Tsujimoto H, Hasegawa A.Using lipopolysaccharide (LPS)-stimulated equine peripheral blood mononuclear cell (PBMC) cDNA as a template, we performed polymerase chain reaction (PCR) amplification with equine interleukin-1 beta (IL-1 beta) specific primers. Electrophoresis of the PCR product on agarose gel revealed an additional smaller fragment that hybridized with an equine IL-1 beta cDNA probe. Sequencing of this fragment demonstrated that it was shorter than normal equine IL-1 beta cDNA by 162 nucleotides, which corresponded to exon 5 of the human and murine IL-1 beta genes. The deletion of 162 nucleotides did not re...
Velde K, Ross MW, Orsini JA, Parente EJ, Foley B, Richardson DW, Miselis RR.To study the fascicular anatomy of peripheral nerves, three different groups of retrograde axonal tracers were evaluated: fluorophores, horseradish peroxidase conjugated to subunit B of cholera toxin (CT-HRP), and adeno-associated virus (AAV). The hindlimb nerves in rats served as a model to identify the most efficient tracer in regard to labeling axons within peripheral nerves. The rat's tibial and common peroneal nerves were injected with the different tracers and the sciatic nerve was subsequently examined for evidence of labeled axons. The CT-HRP clearly provided the best results in this r...
Jarvis SM, Harris RC.The inward transport of two purines, adenosine and hypoxanthine, at 37 degrees C by horse erythrocytes was compared. No mediated transport of adenosine was detected in horse erythrocytes, nor was saturable, high-affinity binding of the potent facilitated-diffusion inhibitor nitrobenzylthioinosine demonstrable in horse erythrocyte membranes. In contrast, erythrocytes from most horses possessed a saturable sodium-dependent hypoxanthine transporter (apparent K(m), 100 +/- 28 microM; Vmax, 0.20 +/- 0.08 mmol (l cells)-1 h-1; means +/- S.E.M., n = 5). Guanine inhibited hypoxanthine influx (apparent...
Duijkeren EV, Box AT, Schellen P, Houwers DJ, Fluit AC.Integrons in gentamicin- and cotrimoxazole-resistant Enterobacteriaceae from dogs and horses with clinical infections were analyzed by conserved segment PCR-RFLP. Five distinct integron types were found, most of which have previously been reported in Enterobacteriaceae isolated from humans and farm animals, indicating that resistance genes are exchanged between the reservoirs in humans, farm animals, and companion animals.
Stefaniuk M, Kaczor U, Augustyn R, Gurgul A, Kulisa M, Podstawski Z.Myostatin (GDF-8) encoded by the MSTN gene is a negative regulator of muscle growth and development and belongs to the TGF-β superfamily of secreted growth and differentiation factors. In Thoroughbred horses, an MSTN sequence polymorphism (g.66493737C>T) is associated with optimum race distance. In the present study, a genetic polymorphism of a predicted promoter of the MSTN gene was investigated in 451 horses belonging to five different breeds: Arabian, Thoroughbred, Polish Konik, Hucul and Polish Heavy Draft. Two SNPs located at g.66495826T>C and g.66495696T>C (chr;18 EquCab 2.0) s...
Erice I, Gil L, Josa A, Echegaray A, Martinez F, Espinosa E.Mares (n = 39) were classified according to age as young (less than 1.5 yr, n = 17) or old (more than 1.5 yr, n = 22) and sacrificed. Ovaries were measured and weighed, and the number of follicles and CL were counted. Follicle size and distribution were recorded (external: > 20 mm, 5 mm, < 5 mm). External follicles were aspirated while internal follicles were sliced. The number and Type of oocytes recovered using each method were recorded. Oocyte recovery rates (oocytes/ovary) resulted in a mean of 0.92 oocytes by aspiration and 1.36 oocytes by additional slicing. The mean numbers of av...
Siddiqui MA, Gastal EL, Ju JC, Gastal MO, Beg MA, Ginther OJ.Horse oocytes (n = 37) were recovered in vivo from pre-ovulatory follicles 30 h after an ovulation-inducing hCG injection and were examined by fluorescent staining and confocal microscopy. Percentages of metaphase-I (MI), metaphase-II (MII) and atypical oocytes were 11%, 78% and 11% respectively. Microtubules were concentrated in the meiotic spindle in both MI and MII oocytes. Chromosomes in the metaphase plate were anchored at the equatorial region of the spindle. Spindle orientation was perpendicular to the oolema in all MI oocytes, whereas in MII oocytes, 66% were parallel and 34% were perp...
Schuh JC.Bilateral true colobomas with retrobulbar cysts located over the optic nerves are described in an 8-year-old Quarterhorse mare with a history of progressive blindness. Colobomas result from the failure of an embryonic fissure to close and retrobulbar cysts result from eversion of the neuroectoderm through the colobomas. It could not be determined whether the small optic nerves and the scars, rosettes and disorganization of the cell layers in the retina were the result of concurrent dysplasia or were secondary to degeneration.
Sinha AK, Rose RJ, Pozgaj I, Hoh JF.The histochemical ATPase method for muscle fibre typing was first described by Brooke and Kaiser in 1970. However, problems have been found with the subdivision of type II fibres using this technique. To determine whether indirect myosin immunocytochemistry using anti-slow (5-4D), anti-fast (1A10) and anti-fast red (5-2B) monoclonal antibodies with cross reactivity for type I, II and IIa fibres, respectively, in a number of species, could identify three fibre types in equine skeletal muscle, data on fibre type composition and fibre size obtained using the two different techniques were compared...
Villagomez DAF, Welsford EG, King WA, Revay T.In the domestic horse; failure of normal masculinization and virilization due to deficiency of androgenic action leads to a specific disorder of sexual development known as equine androgen insensitivity syndrome (AIS). Affected individuals appear to demonstrate an incoherency between their genetic sex and sexual phenotype; i.e., XY-sex chromosome constitution and female phenotypic appearance. AIS is well documented in humans. Here we report the finding of two novel genetic variants for the AR-gene identified in a Tennessee Walking Horse and a Thoroughbred horse mare; each in individual clinica...
Bugno M, Slota E, Witarski W, Gerber V, Klukowska-Roetzler J.The results obtained in the present study enabled the physical map of the donkey genome to be extended with markers associated with recurrent airway obstruction (RAO), a major performance-limiting disease of Equidae. The equine BAC clone containing the IL4R and CLCA1 genes were localized to EAS 14q13 and EAS 6q15 respectlivy by fluorescent in situ hybridization. Identification of their locus confirmed the distribution of syntenic regions between the domestic horse and the domestic donkey within the chromosomes analysed.
Wertz PW, Colton SW, Downing DT.The acylglucosylceramides were isolated from the polar lipids of horse epidermis and examined to determine whether the component omega-hydroxyacids are straight chained as in the corresponding lipids from pig epidermis or branched as in horse sebum. The hydroxyacids from horse epidermis were found to be almost entirely straight chained compounds. The results indicate that sebaceous glands, although derived from epidermal cells, have evolved independent pathways of lipid metabolism.
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.