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.
Aleman M, Riehl J, Aldridge BM, Lecouteur RA, Stott JL, Pessah IN.Equine malignant hyperthermia MH has been suspected but never genetically confirmed. In this study, we investigated whether mutations in a candidate gene, RyR1, were associated with MH in two clinically affected horses. RyR1 gene sequences revealed polymorphisms in exons 15, 17, and 46 in WTRyR1 and MHRyR1 horses with one derived amino acid change in MHRyR1 exon 46, R2454G. The MHRyR1 horses were genetically heterozygous for this mutation, but presented an MH phenotype with halothane challenge. Skeletal sarcoplasmic reticulum from a R2454G heterozygote collected during a fulminant MH episode s...
Mealey RH, Leib SR, Pownder SL, McGuire TC.Equine infectious anemia virus (EIAV) is a lentivirus that causes persistent infection in horses. The appearance of antigenically distinct viral variants during recurrent viremic episodes is thought to be due to adaptive immune selection pressure. To test this hypothesis, we evaluated envelope SU cloned sequences from five severe combined immunodeficient (SCID) foals infected with EIAV. Within the SU hypervariable V3 region, 8.5% of the clones had amino acid changes, and 6.4% had amino acid changes within the known cytotoxic T lymphocyte (CTL) epitope Env-RW12. Of all the SU clones, only 3.1% ...
White SD, Affolter VK, Bannasch DL, Schultheiss PC, Hamar DW, Chapman PL, Naydan D, Spier SJ, Rosychuk RA, Rees C, Veneklasen GO, Martin A, Bevier D....Data on fifty horses with hereditary equine regional dermal asthenia (HERDA; "hyperelastosis cutis") were collected on clinical, histopathological, ultrastructural and immunohistological findings. All horses were Quarter horses or of Quarter horse ancestry. Pedigree evaluation strongly supported an autosomal recessive mode of inheritance. The most common lesions were seromas/haematomas, open wounds, sloughing skin, and loose, easily tented skin that did not return to its initial position. Definitive diagnosis could not be made via histopathology, although the presence of tightly grouped thin a...
White KS, Fuji RN, Valentine BA, Bildfell RJ.Abstract Congenital cutaneous papillomas were identified in five foals. Age at diagnosis ranged from 305 days' gestation to 2 days of age. Breeds were thoroughbred (2), standard-bred (1), warmblood (1) and paint (1). Two were female, one was male and the gender of two cases was not specified. Masses were pedunculated with a roughened, wart-like (verrucous) or a smoother, cauliflower-like surface. Masses occurred as single lesions on the forelimb, lip and face, or as multiple lesions on the trunk. Histological features included relatively uniform epidermal papillary hyperplasia with variable me...
Howden KJ.A Thoroughbred mare was presented for stallion-like behavior. Reproductive and ultrasonographic evaluation, testosterone assays, and karyotyping confirmed a diagnosis of androgen insensitivity syndrome (64, XY--testicular feminization). Surgery to remove abdominal testicles was successful in alleviating the behavioral abnormality. This condition is discussed with reference to the current literature. Une jument Thoroughbred a été présentée parce qu’elle avait un comportement d’étalon. Une évaluation reproductrice et échographique, des dosages de testostérone et un caryotypage ont c...
Sutter WW, Kaneps AJ, Bertone AL.To evaluate the buffy coat and apheresis methods for preparation of platelet concentrates from equine blood by comparing platelet and growth factor concentrations. Methods: 15 mature mixed-breed geldings. Methods: Whole blood samples were collected and processed by use of a buffy coat or apheresis method to obtain platelet poor and platelet concentrated fractions. The PCV, WBC count, and platelet count were compared among whole blood samples, platelet poor fractions, concentrates obtained by use of the apheresis method (ie, apheresis platelet concentrates), and concentrates obtained by use of ...
Saint-Dizier M, Chopineau M, Dupont J, Combarnous Y.The full-length equine luteinizing hormone/chorionic gonadotropin (LH/CG) receptor (eLH/CG-RA) cDNA and two alternatively spliced isoforms (eLH/CG-RB,C) were isolated from luteal tissue and characterized using a combination of reverse transcription-polymerase chain reaction (RT-PCR) and 5'-rapid amplification of cDNA ends. The 680-amino acid full sequence of eLH/CG-RA displayed 87-92% homology with other mammalian LH/CG-Rs. The eLH/CG-RB and eLH/CG-RC cDNA isoforms were truncated from the 3'-end of exon X: eLH/CG-RB spliced out of frame into the last exon whereas eLH/CG-RC contained an in-fram...
Maxwell WM, Evans G, Hollinshead FK, Bathgate R, De Graaf SP, Eriksson BM, Gillan L, Morton KM, O'Brien JK.Sex-sorting of mammalian spermatozoa has applications for genetic improvement of farm animals, in humans for the control of sex-linked disease, and in wildlife as a captive management strategy and for the re-population of endangered species. Considerable research has been undertaken worldwide on the Beltsville sperm sexing technology, the only effective method for pre-selection of sex of offspring. The combination of this method with assisted reproductive technologies has resulted in the birth of offspring in a wide range of animals, including cattle, the only livestock species in which sperm ...
Turner AG.A discussion of ocular conditions of foals with an emphasis on congenital and inherited disorders is presented. An understanding of the normal postnatal development of the eye and adnexae is important. Recognition of inherited abnormalities is essential when giving advice on breeding suitability, and prompt attention or referral of deteriorating ocular conditions in foals ensures the best outcome for future use. Congenital conditions may be recognized for the first time in older animals during their first thorough eye examination.
Traversa D, Giangaspero A, Galli P, Paoletti B, Otranto D, Gasser RB.Gastric or cutaneous habronemosis caused by Habronema microstoma Creplin, 1849 and Habronema muscae Carter, 1865 is a parasitic disease of equids transmitted by muscid flies. There is a paucity of information on the epidemiology of this disease, which is mainly due to limitations with diagnosis in the live animal and with the identification of the parasites in the intermediate hosts. To overcome such limitations, a molecular approach, based on the use of genetic markers in the second internal transcribed spacer (ITS-2) of ribosomal DNA, was established for the two species of Habronema. Charact...
Morris LH.The generally recommended minimum number of spermatozoa required for conventional artificial insemination in the mare is in excess of 200 x 10(6) progressively motile spermatozoa. Recent developments in different insemination techniques such as deep uterine, hysteroscopic and oviductal insemination, which have been designed to use significantly fewer spermatozoa, are reviewed in this paper. A number of studies have demonstrated that ultrasound guided deep uterine insemination of 5 x 10(6) fresh spermatozoa can produce satisfactory pregnancy rates. The use of hysteroscopic insemination enables ...
Achmann R, Curik I, Dovc P, Kavar T, Bodo I, Habe F, Marti E, Sölkner J, Brem G.Blood samples of 561 Lipizzan horses from subpopulations (studs) of seven European countries representing a large fraction of the breed's population were used to examine the genetic diversity, population subdivision and gene flow in the breed. DNA analysis based on 18 microsatellite loci revealed that genetic diversity (observed heterozygosity = 0.663, gene diversity = 0.675 and the mean number of alleles = 7.056) in the Lipizzan horse is similar to other horse breeds as well as to other domestic animal species. The genetic differentiation between Lipizzan horses from different studs, although...
Aberle KS, Hamann H, Drögemüller C, Distl O.We compared the genetic diversity and distance among six German draught horse breeds to wild (Przewalski's Horse), primitive (Icelandic Horse, Sorraia Horse, Exmoor Pony) or riding horse breeds (Hanoverian Warmblood, Arabian) by means of genotypic information from 30 microsatellite loci. The draught horse breeds included the South German Coldblood, Rhenish German Draught Horse, Mecklenburg Coldblood, Saxon Thuringa Coldblood, Black Forest Horse and Schleswig Draught Horse. Despite large differences in population sizes, the average observed heterozygosity (H(o)) differed little among the heavy ...
Puppione DL, Fischer WH, Park M, Whitelegge JP, Schumaker VN, Golfeiz S, MacDonald MH.Apolipoprotein A-II, the second major apolipoprotein of human HDL, also has been observed in a variety of mammals; however, it is either present in trace amounts or absent in other mammals. In humans and chimpanzee, and probably in other great apes, apoA-II with a cysteine at residue 6 is able to form a homodimer. In other primates as well as other mammals, apoA-II, lacking a cysteine residue, is monomeric. However, horse HDL has been reported to contain dimeric apoA-II that following reduction forms monomers. In this report, we extend these observations by reporting on the first complete sequ...
Brown JJ, Thomson W, Clegg P, Eyre S, Kennedy LJ, Matthews J, Carter S, Ollier WE.The full extent of the polymorphism of ELA-DRA in Equidae is not yet known. Given the apparent differences in DRA polymorphisms between Equidae and other species, the aims of this study were to more fully characterize ELA-DRA, determine the extent of gene polymorphism and establish the allele-frequency distribution. An allele reference panel for the second exon of ELA-DRA was established by sequence-based typing of 69 equine DNA samples consisting of various breeds of domestic horse (Equus caballus), together with donkeys (Equus asinus), Grant's zebras (Equus boehmi) and one onager (Equus hemi...
Arrighi S, Cremonesi F, Bosi G, Domeneghini C.Specimens of testis, excurrent duct including the male accessory glands and urethra, were studied in boars, bulls, horses and donkeys, in order to localize endocrine/paracrine cells. Silver impregnation methods were used to test the argentaffinity and/or argyrophilia of cells. Immunoreactivities to chromogranin A, 5-hydroxytryptamine, somatostatin, [met]- and [leu]- enkephalins, gastrin-releasing peptide, calcitonin gene-related peptide, neuropeptide Y, substance P, vasoactive intestinal peptide, beta-endorphin antisera were tested by a streptavidin-biotin method. In the testis, epididymis, du...
Timoney JF.Streptococci pathogenic for the horse include S. equi (S. equi subsp. equi), S. zooepidemicus (S. equi subsp. zooepidemicus), S. dysgalactiae subsp. equisimilis and S. pneumoniae capsule Type III. S. equi is a clonal descendent or biovar of an ancestral S. zooepidemicus strain with which it shares greater than 98% DNA homology and therefore expresses many of the same proteins and virulence factors. Rapid progress has been made in identification of virulence factors and proteins uniquely expressed by S. equi. Most of these are expressed either on the bacterial surface or are secreted. Notable e...
Ribeiro AA, Davis C, Gabella G.The superior (cranial) cervical ganglion was investigated by light microscopy in adult rats, capybaras (Hydrochaeris hydrochaeris) and horses. The ganglia were vascularly perfused, embedded in resin and cut into semi-thin sections. An unbiased stereological procedure (disector method) was used to estimate ganglion neuron size, total number of ganglion neurons, neuronal density. The volume of the ganglion was 0.5 mm3 in rats, 226 mm3 in capybaras and 412 mm3 in horses. The total number of neurons per ganglion was 18,800, 1,520,000 and 3,390,000 and the number of neurons per cubic millimetre was...
Powell K.A promising new horse vaccine may reignite enthusiasm for DNA vaccine technology in designing prophylactics against infectious disease. Kendall Powell reports.
Ing NH, Laughlin AM, Varner DD, Welsh TH, Forrest DW, Blanchard TL, Johnson L.In the testis of the 1.5-year-old horse, spermatogenesis initiates locally in grossly light, central areas that contrast with grossly dark, peripheral areas that are as yet inactive in spermatogenesis. Gene expression was compared between "light" and "dark" tissues of 1.5-year-old horse testes to identify mechanisms important to the initiation of spermatogenesis. Microarrays containing human cDNAs were used to assess expression levels of 9132 genes simultaneously in matched pairs of dark and light testis tissues from 3 prepubertal colts. In all 3 analyses, dysferlin (DYS), down-regulated in ov...
Blazyczek I, Hamann H, Ohnesorge B, Deegen E, Distl O.The objective of the present study was to analyze the mode of inheritance of guttural pouch tympany (GPT) using pedigrees of Arabian horses. Complex segregation analyses were employed to test for the significance of nongenetic transmission and for monogenic, polygenic, and mixed monogenic-polygenic modes of inheritance. Horses affected by GPT comprised 27 Arabian purebred foals. Of these 27 animals, 22 were patients at the Clinic for Horses, School of Veterinary Medicine Hannover, Hannover, Germany, between 1994 and 2001 and 5 Arabian foals were from stud farms. Information on the pedigrees of...
Wu D, Murakami K, Liu N, Konishi M, Muneta Y, Inumaru S, Kokuho T, Sentsui H.The equine interleukin-18 (IL-18) cDNA that contains the coding sequence was cloned and a recombinant baculovirus, named AcEIL-18, was constructed. The recombinant protein of the equine IL-18 was expressed by AcEIL-18 and its expression was confirmed by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and Western blotting. Insect cells infected with AcEIL-18 secreted a precursor IL-18 with 24 kilo dalton (kDa) into the culture supernatant. Western blot analysis showed that mature equine IL-18 about 18 kDa was also confirmed without co-expression of caspase-1. Culture supern...
Dai CM, Zhang XY, Zhang RR, Shao YM, Shen RX.To develop a novel vaccine candidate of Equine infectious anemia virus(EIAV). Methods: env genes of EIAV Chinese donkey leukocyte attenuated strain (EIAV DLV) and its parental virus strain (EIAV LN) were expressed using the BAC-To-BAC system, and Env proteins were confirmed by SDS-PAGE and Western blot. BALB/c mice were immunized with recombinant vaccinia viruses containing env genes of EIAV alone or boosted with Env proteins expressed by recombinant baculovirus. Both protective humoral and cellular immune responses were detected. Results: Recombinant baculovirus could express complete Env pro...
Dell'Aquila ME, Caillaud M, Maritato F, Martoriati A, Gérard N, Aiudi G, Minoia P, Goudet G.The aim of this study was to investigate cumulus expansion, nuclear maturation and expression of connexin 43, cyclooxygenase-2 and FSH receptor transcripts in equine cumuli oophori during in vivo and in vitro maturation in the presence of equine FSH (eFSH) and precursors for hyaluronic acid synthesis. Equine cumulus-oocyte complexes (COC) were cultured in a control defined medium supplemented with eFSH (0 to 5 micrograms/ml), Fetal Calf Serum (FCS), precursors for hyaluronic acid synthesis or glutamine according to the experiments. After in vitro maturation, the cumulus expansion rate was incr...
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...
Raudsepp T, Santani A, Wallner B, Kata SR, Ren C, Zhang HB, Womack JE, Skow LC, Chowdhary BP.We herein report a detailed physical map of the horse Y chromosome. The euchromatic region of the chromosome comprises approximately 15 megabases (Mb) of the total 45- to 50-Mb size and lies in the distal one-third of the long arm, where the pseudoautosomal region (PAR) is located terminally. The rest of the chromosome is predominantly heterochromatic. Because of the unusual organization of the chromosome (common to all mammalian Y chromosomes), a number of approaches were used to crossvalidate the results. Analysis of the 5,000-rad horse x hamster radiation hybrid panel produced a map spannin...
Chopineau M, Martinat N, Gibrat JF, Galet C, Lecompte F, Foulon-Gauze F, Pourchet C, Guillou F, Combarnous Y.To identify amino-acids in the alpha-subunit important for expression of heterospecific FSH activity of horse (e) LH/choriogonadotropin (CG) (eLH) and donkey (dk) LH/CG (dkLH) (FSH/LH ratio ten times higher for eLH than for dkLH); this FSH activity absolutely requires an equid (donkey or horse) alpha-subunit combined with an equid beta-LH subunit. Methods: Chimeric alpha-subunits possessing the first 63 amino-acids of the porcine (p) and the last 33 amino-acids of the donkey alpha-subunit (alphap-dk) and the inverse (alphadk-p) were constructed. Porcine-specific amino-acids were introduced by ...
Ginther OJ, Gastal EL, Gastal MO, Bergfelt DR, Baerwald AR, Pierson RA.Deviation in growth rates of the follicles of the ovulatory wave begins at the end of a common growth phase and is characterized by continued growth of the developing dominant follicle (F1) and regression of the largest subordinate follicle (F2). Follicle diameters during an interovulatory interval were compared between 30 mares and 30 women, using similar methods for collecting and analyzing data. Follicles were tracked and measured daily by ultrasonography. Diameter at follicle emergence (mares, 13 mm; women, 6 mm) and the required minimal attained diameter for assessment of follicles (mares...
Verberckmoes S, Van Soom A, de Kruif A.Artificial insemination (AI) is the oldest and currently most common technique in the assisted reproduction of animals and humans. The introduction of AI in farm animals was forced by sanitary reasons and the first large-scale applications with a commercial goal were performed in cattle in the late 1930s of last century. After the Second World War, cryopreservation of semen facilitated distribution and AI was mainly performed for economic reasons, especially in dairy cattle industry. In humans however, AI was initially performed in cases of physiological and psychological sexual dysfunction, b...
Guignot F, Reigner F, Perreau C, Tartarin P, Babilliot JM, Bed'hom B, Vidament M, Mermillod P, Duchamp G.Preimplantation genetic diagnosis and embryo cryopreservation are important tools to improve genetic management in equine species with marked consequences on the economic value, health, biodiversity, and preservation of the animals. This study aimed to develop a biopsy method at the blastocyst stage that provides viable genotyped cryopreserved Welsh pony embryos. Embryos were collected at d 6.75 to 7 after ovulation. Biopsies were performed with either a microblade or a micropipette. After biopsy, embryos were cryopreserved. The survival rate of biopsied embryos was evaluated on fresh and cryo...
Galantino-Homer H, Brooks SA.Laminitis is a devastating disease with diverse etiologies and few, if any, effective treatments. Gene expression and hypothesis-generating genomic studies have provided a fresh look at the key molecular players at crucial timepoints in diverse experimental and naturally affected tissues. We summarize findings to date, and propose a unifying model of the laminitis disease process that includes several pathogenesis concepts shared with other diseases of epidermal and epithelial tissues. The value of these new pathways as potential therapeutic targets is exciting but will require careful future ...
Elsheikha HM, Mansfield LS.Sarcocystis neurona is an important protozoal pathogen because it causes the serious neurological disease equine protozoal myeloencephalitis (EPM). The capacity of this organism to cause a wide spectrum of neurological signs in horses and the broad geographic distribution of observed cases in the Americas drive the need for sensitive, reliable and rapid typing methods to characterize strains. Various molecular methods have been developed and used to diagnose EPM due to S. neurona, to identify S. neurona isolates and to determine the heterogeneity and evolutionary relatedness within this specie...
Kaminski M, de Andres Cara DF.Genetic variants at eight blood loci were analysed, disclosing in Andalusian breed six rare markers: variants J of transferrin, H of esterase, D and S of Xk, M and W of prealbumin. Two of these, TfJ and PrM appear as characteristic markers of Andalusian breed. Allelic frequencies showed minor differences between Spanish (300 horses) and Lusitanian (100 horses) populations. Comparison was established with historically related breeds, Thoroughbreds or Connemara, and with Arab horses because of a presumed relationship. No visible similarities in genetic profiles were found with two former breeds,...
Edwards L, Finno CJ.Neurologic disease in horses can be particularly challenging to diagnose and treat. These diseases can result in economic losses, emotional distress to owners, and injury to the horse or handlers. To date, there are 5 neurologic diseases caused by known genetic mutations and several more are suspected to be heritable: lethal white foal syndrome, lavender foal syndrome, cerebellar abiotrophy, occipitoatlantoaxial malformation, and Friesian hydrocephalus. Genetic testing allows owners, breeders, and veterinarians to make informed decisions when selecting dams and sires for breeding or deciding t...
Williams ZJ, Bertels M, Valberg SJ.Type 1 polysaccharide storage myopathy (PSSM1) is a glycogen storage disorder of known cause whereas the basis for type 2 PSSM (PSSM2) is unknown. The same diet and exercise regime prescribed for PSSM1 is recommended for PSSM2; however, the benefit of these recommendations for PSSM2 is undocumented. The objectives of this study were to determine traits of PSSM2 Warmblood horses (WB), determine the changes in exercise responses that occur with a recommended low-starch/fat-supplemented diet and exercise regime, and determine if glycogen concentrations correspond to the severity of signs. Owners ...
Ishida N, Hasegawa T, Oyunsuren T, Mukoyama H.The mitochondrial DNA sequence of cytochrome b gene in a Thoroughbred horse was determined. By comparing DNA sequences between the Thoroughbred and published sequence data (two horses and one Grevyi zebra), polymerase chain reaction (PCR) primers were designed for amplification of a 590 bp DNA fragment in the cytochrome b gene, and PCR-restriction fragment length polymorphism (RFLP) analysis was studied in 140 horses of six breeds using three restriction enzymes (AciI, BamHI, RsaI). Two morphs were found using each of the three enzymes. By combining three enzymes morphs, the 140 horses examine...