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.
Poloumienko A.A growing body of evidence suggests the involvement of sex chromosome genes in mammalian development. We report the cloning and characterization of the complete coding regions of the bovine Y chromosome ZFY and X chromosome ZFX genes, and partial coding regions of porcine and equine ZFX and ZFY genes. Bovine ZFY and ZFX are highly similar to each other and to ZFX and ZFY from other species. While bovine and human ZFY proteins are both 801 amino acids long, bovine ZFX is 5 amino acids shorter than human ZFX. Like in humans, both bovine ZFY and ZFX contain 13 zinc finger motifs and belong to the...
Choi YH, Love LB, Varner DD, Hinrichs K.This study was conducted to evaluate the effect of initial cumulus morphology (expanded or compact) and duration of in vitro maturation (24, 30 or 42 h) on the developmental competence of equine oocytes after intracytoplasmic sperm injection (ICSI). The effect of manipulation temperature (room temperature vs 37 degrees C) at the time of ICSI and concentration of glucose (0.55 vs 5.5 mM) during embryo culture was also investigated. The nuclear maturation rates of expanded (Ex) oocytes were significantly (P < 0.001) higher than those of compact (Cp) oocytes at all maturation times (61-72 vs 23-2...
Allen WR, Wilsher S, Tiplady C, Butterfield RM.The growth parameters exhibited by seven Thoroughbred (Tb) foals that had experienced a 'restricted' in utero existence following transfer as embryos to the uteri of smaller Pony (P) mares (Tb-in-P) and, conversely, six P foals that experienced a 'luxurious' in utero existence after transfer to larger Tb mares (P-in-Tb), were compared from birth to 3 years of age with those exhibited by six normal Tb-in-Tb and six P-in-P foals conceived by within-breed artificial insemination. Bodyweight, height at the withers, girth, poll-to-nose length, crown-rump length and three foreleg longbone measuremen...
Allison N, Moeller RB, Duncan R.A teratocarcinoma was diagnosed in the amnion of a 5-year-old Arabian mare that delivered a healthy, full-term foal. The foal died at 2.5 months of age as a result of metastasis of an undifferentiated component of the mass. This case is unique because it is the first reported case of placental teratocarcinoma in animals and the malignant component apparently metastasized to the foal resulting in its death.
Balasuriya UB, Dobbe JC, Heidner HW, Smalley VL, Navarrette A, Snijder EJ, MacLachlan NJ.We have used an infectious cDNA clone of equine arteritis virus (EAV) and reverse genetics technology to further characterize the neutralization determinants in the GP5 envelope glycoprotein of the virus. We generated a panel of 20 recombinant viruses, including 10 chimeric viruses that each contained the ORF5 (which encodes GP5) of different laboratory, field, and vaccine strains of EAV, a chimeric virus containing the N-terminal ectodomain of GP5 of a European strain of porcine reproductive and respiratory syndrome virus, and 9 mutant viruses with site-specific substitutions in their GP5 pro...
Wallraf A, Hamann H, Deegen E, Ohnesorge B, Distl O.The prevalence of pastern dermatitis was investigated in 917 German Coldblood horses aged 2.5 to 26 years. Pastern dermatitis was prevalent in Black Forest Draught horses with 47.5% and in South German Draught horses with 58.5%. High prevalences were found in Mecklenburg (76.4%), Saxon-Thuringa (84.3%), Schleswig (86.0%), and Rhenisch German Coldblood (96.1%) horses. All four legs or both hind legs were affected most frequently. The most prevalent forms of pastern dermatitis were crusted and hyperkeratotic-hyperplastic. The occurrence of pastern dermatitis was dependent of age. The statistical...
Collins MD, Lundström T, Welinder-Olsson C, Hansson I, Wattle O, Hudson RA, Falsen E.Phenotypic and phylogenetic studies were performed on four unidentified Gram-positive staining, catalase-negative, alpha-hemolytic Streptococcus-like organisms recovered from the teeth of horses. SDS PAGE analysis of whole-cell proteins and comparative 16S rRNA gene sequencing demonstrated the four strains were highly related to each other but that they did not correspond to any recognised species of the genus Streptococcus. Phylogenetic analysis based on 16S rRNA gene sequences showed the unidentified organisms form a hitherto unknown sub-line within the Streptococcus genus, displaying a clos...
Di Bernardo G, Galderisi U, Del Gaudio S, D'Aniello A, Lanave C, De Robertis MT, Cascino A, Cipollaro M.DNA extracted from the skeletons of five equids discovered in a Pompeii stable and of a horse found in Herculaneum was investigated. Amino acid racemization level was consistent with the presence of DNA. Post-mortem base modifications were excluded by sequencing a 146 bp fragment of the 16S rRNA mitochondrial gene. Sequencing of a 370 bp fragment of mitochondrial (mt)DNA control region allowed the construction of a phylogenetic tree that, along with sequencing of nuclear genes (epsilon globin, gamma interferon, and p53) fragments, gave us the possibility to address some questions puzzling arch...
Gasser RB, Hung GC, Chilton NB, Beveridge I.Infections of equids with parasitic nematodes of the order Strongylida (subfamilies Strongylinae and Cyathostominae) are of major veterinary importance. In last decades, the widespread use of drugs against these parasites has led to problems of resistance within the Cyathostominae, and to an increase in their prevalence and intensity of infection. Novel control strategies, based on improved knowledge of parasite biology and epidemiology, have thus become important. However, there are substantial limitations in the understanding of fundamental biological and systematic aspects of these parasite...
Oldfield C, Bonella H, Renwick L, Dodson HI, Alderson G, Goodfellow M.Rhodococcus equi is a facultative pathogen of foals. Infection causes an often fatal pulmonary pneumonia. The organism has also been isolated from pigs, cattle, humans and the environment. Equine virulence has a high positive correlation with the expression of a 17.4 kD polypeptide of unknown function, VapA, the product of the plasmid-encoded vapA gene. More recently an isogene of vapA, referred to as vapB and encoding an 18.2 kDa polypeptide, has been identified among pig and human isolates. The two genes share > 80% sequence identity, yet their host strains apparently exhibit different patho...
Terry RB, Archer S, Brooks S, Bernoco D, Bailey E.A single autosomal dominant locus, leopard complex (LP) controls the presence of appaloosa pigmentation patterns in the horse. The causative gene for LP is unknown. This study was undertaken to map LP in the horse. Two paternal half sib families segregating for the LP locus and including a total of 47 offspring were used to perform a genome scan which localized LP to horse chromosome 1 (ECA1). LP was linked to ASB08 (LOD = 9.99 at Theta = 0.02) and AHT21 (LOD = 5.03 at Theta = 0.14). To refine the map position of LP, eight microsatellite markers on ECA1 (UM041, LEX77, 1CA41, TKY374, COR046, 1C...
Lai AC, Rogers KM, Glaser A, Tudor L, Chambers T.Phylogenetic and antigenic analyses indicate that recent circulating equine-2 influenza viruses in the United States have been alternating between two genetic and antigenic distinct lineages since 1996. The evolution rates for these two lineages, the Kentucky and the Florida lineage, are very similar. For the earlier isolates in the Kentucky lineage, there are multiple and sequential nonsynonymous substitutions at antigenic sites B and D. However, there are no changes at any of these antigenic sites for KY98 and OK00. In the Florida lineage, except for NY99 with one amino acid substitution at ...
Perryman LE.Severe combined immunodeficiency (SCID) is an inherited disorder of humans, mice, horses, and dogs, in which affected individuals are incapable of generating antigen-specific immune responses. It occurs when lymphocyte precursors fail to differentiate into mature lymphocytes because of mutations within recombinase-activating genes 1 and 2 or within the genes encoding deoxyribonucleic acid (DNA)-dependent protein kinase (DNA-PK). It also occurs when differentiated lymphocytes are incapable of completing signal transduction pathways because of defects in cell surface receptors for interleukins (...
Lindgren G, Backström N, Swinburne J, Hellborg L, Einarsson A, Sandberg K, Cothran G, Vilà C, Binns M, Ellegren H.Genetic studies using mitochondrial DNA (mtDNA) have identified extensive matrilinear diversity among domestic horses. Here, we show that this high degree of polymorphism is not matched by a corresponding patrilinear diversity of the male-specific Y chromosome. In fact, a screening for single-nucleotide polymorphisms (SNPs) in 14.3 kb of noncoding Y chromosome sequence among 52 male horses of 15 different breeds did not identify a single segregation site. These observations are consistent with a strong sex-bias in the domestication process, with few stallions contributing genetically to the do...
Breathnach CC, Rudersdorf R, Lunn DP.Recombinant modified vaccinia Ankara (MVA) vectors expressing equine influenza virus genes were constructed and evaluated for use in equine vaccination. Two strains of recombinant MVA, expressing either hemagglutinin (HA) or nucleoprotein (NP) genes were constructed. Each influenza virus gene was cloned from A/equine/Kentucky/1/81 (Eq/Ky) into an MVA construction plasmid, and was introduced to the deletion III locus of the wild type MVA genome by homologous recombination. Recombinant viruses were plaque purified, and antigen expression was confirmed by immunostaining. Two ponies were primed by...
Zablotskij VT, Georgiu C, de Waal T, Clausen PH, Claes F, Touratier L.During its 20th annual meeting in Paris in May 1999, the OIE (World organisation for animal health) Ad Hoc Group on Non-Tsetse Transmitted Animal Trypanosomoses expressed the following concerns about dourine: the discrepancies in some of the results of the complement fixation test (CFT), which is the only international diagnostic test officially recognised by the International Organisation for the Transportation of Equidae; the persistence of suspected cases of dourine in some Asian, European and African countries; the impossibility of differentiating Trypanosoma equiperdum from Trypanosoma ev...
Riley SC, Thomassen R, Bae SE, Leask R, Pedersen HG, Watson ED.Profound hormonally controlled tissue remodelling occurs in the equine ovary for follicle growth and development, and also for the alteration in follicle shape directed towards the ovulation fossa, the site where ovulation occurs. The aim of this study was to examine the spatial and temporal regulation of matrix metalloproteinases (MMP)-2 and MMP-9, important enzymes in tissue remodelling, during follicle growth, and ovulation. Using gelatin substrate zymography, we measured these MMPs in follicular fluid of large anovulatory follicles collected during spring transition, early dominant follicl...
Takahashi T, Yawata M, Raudsepp T, Lear TL, Chowdhary BP, Antczak DF, Kasahara M.In rodents, the Ly49 family encodes natural killer (NK) receptors interacting with classical MHC class I molecules, whereas the corresponding receptors in primates are members of the killer cell immunoglobulin-like receptor (KIR) family. Recent evidence indicates that the cattle, domestic cat, dog, and pig have a single LY49 and multiple KIR genes, suggesting that predominant NK receptors in most non-rodent mammals might be KIR. Here, we show that the horse has at least six LY49 genes, five with an immunoreceptor tyrosine-based inhibition motif (ITIM) and one with arginine in the transmembrane...
Yang F, Fu B, O'Brien PC, Nie W, Ryder OA, Ferguson-Smith MA.We have made a complete set of painting probes for the domestic horse by degenerate oligonucleotide-primed PCR amplification of flow-sorted horse chromosomes. The horse probes, together with a full set of those available for human, were hybridized onto metaphase chromosomes of human, horse and mule. Based on the hybridization results, we have generated genome-wide comparative chromosome maps involving the domestic horse, donkey and human. These maps define the overall distribution and boundaries of evolutionarily conserved chromosomal segments in the three genomes. Our results shed further lig...
Raudsepp T, Lee EJ, Kata SR, Brinkmeyer C, Mickelson JR, Skow LC, Womack JE, Chowdhary BP.Development of a dense map of the horse genome is key to efforts aimed at identifying genes controlling health, reproduction, and performance. We herein report a high-resolution gene map of the horse (Equus caballus) X chromosome (ECAX) generated by developing and typing 116 gene-specific and 12 short tandem repeat markers on the 5,000-rad horse x hamster whole-genome radiation hybrid panel and mapping 29 gene loci by fluorescence in situ hybridization. The human X chromosome sequence was used as a template to select genes at 1-Mb intervals to develop equine orthologs. Coupled with our previou...
Zeller HG, Schuffenecker I.West Nile (WN) virus is a mosquito-transmitted flavivirus. It is widely distributed in Africa, the Middle East, Asia, and southern Europe and was recently introduced to North America. Birds are involved in the cycle of transmission as amplifying hosts. Humans and horses are considered accidental dead-end hosts. WN fever was initially considered a minor arbovirosis, usually inducing a nonsymptomatic or a mild flu-like illness in humans, but some cases of encephalitis associated with fatalities were reported in Israel in the 1950s. After two silent decades, several human and equine outbreaks of ...
Yang F, Fu B, O'Brien PC, Robinson TJ, Ryder OA, Ferguson-Smith MA.Complete sets of chromosome-specific painting probes, derived from flow-sorted chromosomes of human (HSA), Equus caballus (ECA) and Equus burchelli (EBU) were used to delineate conserved chromosomal segments between human and Equus burchelli, and among four equid species, E. przewalskii (EPR), E. caballus, E. burchelli and E. zebra hartmannae (EZH) by cross-species chromosome painting. Genome-wide comparative maps between these species have been established. Twenty-two human autosomal probes revealed 48 conserved segments in E. burchelli. The adjacent segment combinations HSA3/21, 7/16p, 16q/1...
Ward TL, Valberg SJ, Lear TL, Guérin G, Milenkovic D, Swinburne JE, Binns MM, Raudsepp T, Skow L, Chowdhary BP, Mickelson JR.Comparative biochemical and histopathological data suggest that a deficiency in the glycogen branching enzyme (GBE) is responsible for a fatal neonatal disease in Quarter Horse foals that closely resembles human glycogen storage disease type IV (GSD IV). Identification of DNA markers closely linked to the equine GBE1 gene would assist us in determining whether a mutation in this gene leads to the GSD IV-like condition. FISH using BAC clones as probes assigned the equine GBE1 gene to a marker deficient region of ECA26q12-->q13. Four other genes, ROBO2, ROBO1, POU1F1, and HTR1F, that flank GB...
Lieto LD, Cothran EG.Epitheliogenesis imperfecta (EI) is a hereditary junctional mechanobullous disease that occurs in newborn American Saddlebred foals. The pathological signs of epitheliogenesis imperfecta closely match a similar disease in humans known as Herlitz junctional epidermolysis bullosa, which is caused by a mutation in one of the genes (LAMA3, LAMB3 and LAMC2) coding for the subunits of the laminin 5 protein (laminin alpha3, laminin beta3 and laminin gamma2). The LAMA3 gene has been assigned to equine chromosome 8 and LAMB3 and LAMC2 have been mapped to equine chromosome 5. Linkage disequilibrium betw...
Myka JL, Lear TL, Houck ML, Ryder OA, Bailey E.The genus Equus is unusual in that five of the ten extant species have documented centric fission (Robertsonian translocation) polymorphisms within their populations, namely E. hemionus onager, E. hemionus kulan, E. kiang, E. africanus somaliensis, and E. quagga burchelli. Here we report evidence that the polymorphism involves the same homologous chromosome segments in each species, and that these chromosome segments have homology to human chromosome 4 (HSA4). Bacterial artificial chromosome clones containing equine genes SMARCA5 (ECA2q21 homologue to HSA4q31. 21) and UCHL1 (ECA3q22 homologue ...
Stock KF, Hamann H, Distl O.Factors associated with the prevalence of osseous fragments (OF) in fetlock and hock joints were investigated in a population of young Hanoverian Warmblood horses selected for sale at auction from 1991 to 1998. The study was based on results of a standardized radiological examination of 3127 horses. The prevalences of OF in the two joints were significantly dependent on the date, type and quality of the auction, the region of origin and on the anticipated suitability of the horses for dressage and/or show-jumping. The probability of finding OF increased with wither-height. Furthermore, there w...
Robert P, Amsellem S, Christophe S, Benifla JL, Bellet D, Koman A, Bidart JM.To investigate the possibility that specific structural determinants within the equine follitropin receptor (eFSHR) are critical to the enhanced specificity of this receptor compared to other FSHRs, we used the RACE-PCR technique to clone the eFSHR from equine testis. Sequence analysis revealed that the eFSHR is highly homologous to other mammal FSHRs, but it presents 10 unique amino acid residue replacements in the extracellular domain. Furthermore, a potential N-glycosylation site was detected at a position not encountered in other receptors. Northern blot analysis identified three transcrip...
Harrington JP, Carrier TL.The effect of several different types of perturbants and pH on the rate of autoxidation of horse heart ferrocytochrome c was investigated. The kinetic behavior is unique to each perturbant used. Rates of autoxidation followed first-order kinetics over the time span (0-180 min) studied. The Cl- and Br- anions exhibit an initial increase in the rate of autoxidation up to 100 mM, followed by a decrease in kinetics at 500 mM anion concentration. The ClO4- anion exhibits only an increase in the rate of autoxidation with increasing ionic strength, where as, propylurea, a hydrophobic perturbant, is n...
Schuh JC, Valentine BA.Basal cell tumors from 11 horses were examined histologically. Distinct patterns identified in the order of frequency are adenoid (six), solid (three), and medusoid (two). A minor component of most of these neoplasms was a ribbon pattern and cystic spaces. Hyalinized connective tissue and clear cells reminiscent of hair follicle glassy membranes and outer root sheath were present in a solid and the medusoid tumors. Heavy melanin pigmentation was present in one solid basal cell tumor. In eight cases for which information was available, the tumors had not recurred 3 to 8 years after excision.
Sato T, Itou T, Sato G, Kobayashi Y, Endo H, Sakai T.In order to investigate the utilization of glucose in equine skeletal muscle, we determined the coding and proximal promoter sequences of the hexokinase type II (HKII) gene in thoroughbred horse, Grevy's zebra and Hartmann's mountain zebra. The deduced amino acid sequence of thoroughbred horse HKII showed 100, 100, 94.4, 92.7 and 92.6% identities with Grevy's zebra, Hartmann's mountain zebra, human, mouse and rat HKIIs, respectively. In equine HKIIs, specific amino acid substitutions, Ile 159 and Arg 610, were found in the potential binding site for glucose. In addition, the nucleotide sequenc...
Goudet G.The mammalian oviduct plays a crucial role in the preparation of gametes for fertilisation (transport and final maturation) and fertilisation itself. An increasing number of studies offers a comprehensive overview of the functions of the oviduct and its secretions, but this topic has had limited investigation in the horse. Limited data are available on the final oocyte maturation in the equine oviduct. However, in vitro and in vivo systems have been established to analyse the influence of equine oviduct epithelial cells (OEC) during maturation on the potential of oocytes for fertilisation and ...
Antczak DF.The development of placentation that coincided with the evolution of mammals presented new challenges to the transmission of life from one generation to the next, particularly with regard to the possibility of maternal immunological recognition and destruction of the developing conceptus. The balance between immunity and tolerance dominates the immunological relationship between mother and fetus during mammalian pregnancy, and the focal point of this relationship lies at the interface between the trophoblast cells that comprise the outermost layer of the placenta and the maternal endometrial t...
Hicks J, Stuber T, Lantz K, Erdman M, Robbe-Austerman S, Huang X.Contagious equine metritis is a disease of worldwide concern in equids. The United States is considered to be free of the disease although sporadic outbreaks have occurred over the last few decades that were thought to be associated with the importation of horses. The objective of this study was to create finished, reference quality genomes that characterize the diversity of Taylorella equigenitalis isolates introduced into the USA, and identify their differences. Five isolates of T. equigenitalis associated with introductions into the USA from unique sources were sequenced using both short an...
We compared the composition and content of fatty acids (FAs) in the liver, muscles, and subcutaneous fat of Yakut horses inhabiting extreme environment in the Cryolithozone. Essential linoleic and alpha-linolenic acids, supplied to horses with their food, were accumulated in different tissues. Linoleic acid was accumulated in the liver but alpha-linolenic acid was accumulated in muscle and subcutaneous fat. Such a distribution indicates different roles of these fatty acids in the metabolism of horses. Yakut horse meat is a valuable dietary product owing to its fatty acid composition and conten...
Studdert MJ.Set in a context of immunodeficiency diseases in general this paper provides a brief, illustrated review of a primary, severe, combined immunodeficiency (PSCID) disease of Arabian foals. Affected foals are clinically normal at birth but beginning at about 10 days of age they develop a range of clinical signs particularly bronchopneumonia and diarrhoea with which adenoviruses are peculiarly associated. Despite intensive therapy foals invariably die by about 3 months of age. Affected foals are profoundly lymphopagenic (greater than 1000 lymphcoytes per mm3). There is thymic and lymph node hypopl...
Berti A, Liguri G, Stefani M, Nassi P, Ramponi G.Horse muscle acylphosphatase antibodies were obtained by immunizing rabbits with the highly purified antigen cross-linked with glutaraldehyde. Specific antibodies were purified from the immunoglobulin fraction by affinity chromatography using a matrix coupled with the pure antigen as immunoadsorbent. The purified antibodies were partially characterized by immunodiffusion and immunoprecipitin techniques. These antibodies could be used to study aspects of the muscle acylphosphatase structure, localization and other biological properties.
Laing JA, Leech FB.In a group of 852 Thoroughbred mares, 69-7% had foals which survived beyond 6 weeks, 7-1% had dead, premature or full-term foals and 1-1% had foals which died within 6 weeks after birth. Possible factors which may have influenced these data are mentioned.
van Ginneken MM, Keizer HA, Wijnberg ID, van Dam KG, Schaart G, de Graaf-Roelfsema E, van der Kolk JH, van Breda E.To investigate whether protein kinase C (PKC) isoforms are expressed in equine skeletal muscle and determine their distribution in various types of fibers by use of immunofluorescence microscopy. Methods: 5 healthy adult Dutch Warmblood horses. Methods: In each horse, 2 biopsy specimens were obtained from the vastus lateralis muscle. Cryosections of equine muscle were stained with PKC isoform (alpha, beta1, beta2, delta, epsilon, or zeta)-specific polyclonal antibodies and examined by use of a fluorescence microscope. Homogenized muscle samples were evaluated via western blot analysis. Results...
Valera M, Galisteo AM, Molina A, Miró F, Gómez MD, Cano MR, Agüera E.The purpose of this study was to estimate the genetic parameters of biokinematic variables in Spanish Purebred (SPB) horses in order to select those of sufficient interest to be measured in the pre-selection of the animals for possible inclusion in the breeding programme. Kinematic analysis of 130 SPB horses 4.6+/-1.5 years old were recorded at the trot (4m/s) on a treadmill. Genetic parameters were estimated using VCE software and a bivariate mixed animal model including age and stud as fixed effects and animal additive genetic effect and residual error as random effects. In general, heritabi...
Koziorowska-Gilun M, Gilun P, Mietelska K, Kordan W.The key prerequisite for successful insemination is sperm characterized to have positive values for morphological and biological variables which are determined by, among others, effective antioxidant protection during the lifespan of sperm cells. This study evaluated the activity and relative abundance of mRNA for antioxidant enzymes in stallion testicular and epididymal tissues during breeding (n = 5) and non-breeding (n = 5) seasons. The activity of superoxide dismutase (SOD) was greater (P < 0.05) during the breeding season, in particular in the testes and the caput epididymis, ...
Cavalcante AL, Dias LM, Alves JT, Veras AA, Guimarães LC, Rocha FS, Gala-García A, Retamal P, Ramos RT, Azevedo V, Silva A, Carneiro AR.Corynebacterium pseudotuberculosis is related to several diseases infecting horses and small ruminants, causing economic losses to agribusiness. Here, we present the genome sequence of C. pseudotuberculosis strain E19. The genome includes one circular chromosome 2,367,956 bp (52.1% G+C content), with 2,112 genes predicted, 12 rRNAs, and 48 tRNAs.
Berger J, Kock M, Cunningham C, Dodson N.Twenty-three (9 male, 14 female) wild horses (Equus caballus) in the Great Basin Desert were immobilized by ground techniques with succinylcholine chloride during 1,950 person-hr. Induction (means = 2.09 +/- 0.59 min) and recovery (means = 12.4 +/- 5.0 min) were rapid and most animals were returned in less than 10 min to original bands. Dosages ranged from 0.66-0.77 mg/kg body weight and neither abortions nor band changes in group membership resulted. However, a few concerted efforts up to 24 hr were needed to return some animals to original bands and three non-drug related mortalities occurre...