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.
STORMONT C, SUZUKI Y.By means of a starch-gel technique suggested by Kristjansson, 3 albumin phenotypes A, AB and B are demonstrable in the serum of horses. As indicated by data on the inheritance of these phenotypes and by a gene-frequency analysis of the distribution of the phenotypes in 2 breeds of horses, the results are consistent with the interpretation that the 3 phenotypes are controlled by a pair of codominant, autosomal alleles. These 3 phenotypes can be diagnosed by examining either the albumin region or the post-albumin region of the gels. Hence, diagnosis in one region serves as an independent check o...
RANDALL CC, WALKER BM.Randall, Charles C. (University of Mississippi School of Medicine, Jackson) and Barbara M. Walker. Degradation of deoxyribonucleic acid and alteration of nucleic acid metabolism in suspension cultures of L-M cells infected with equine abortion virus. J. Bacteriol. 86:138-146. 1963.-Metabolic alterations in log-phase suspension cultures infected with equine abortion virus (EAV) were determined in L-M cells simultaneously labeled or prelabeled with H(3)- or C(14)-thymidine. Although infection produced an early stimulation of the uptake of labeled thymidine (TdR) into the acid-soluble fraction of...
SAXENA BB, McSHAN WH, MEYER RK.Fresh horse-pituitary glands were extracted with 40% ethanol and the gonadotropins were recovered by increasing the alcohol concentration to 85% followed by drying with acetone. This preparation was further extracted with water at pH 5, and the extract was adjusted to pH 7 and lyophilized. The follicle-stimulating hormone in the pH-5-souluble fraction was purified by zone electrophoresis and resolved into six components by starch-gel electrophoresis. One of these components contained follicle-stimulating hormone which was recovered in the elution cell and the contaminating starch was separated...
Hinrichs K, Choi YH.Embryo cryopreservation presents an essential method for banking of valuable genetics. However, in equine species the cryopreservation of embryos is complicated by three interacting factors: (1) the late entry of the embryo into the uterus (~6 days after ovulation); (2) the rapid expansion of the blastocyst; and (3) the formation of the equine embryonic capsule, a glycoprotein membrane that forms between the embryo and zona. Efforts to freeze or vitrify equine expanded blastocysts were initially met with little success. In addition, it was thought that breaching the capsule led to loss of embr...
Yu MH, Kasem S, Yoshizaki N, Pagamjav O, Yamaguchi T, Ohya K, Fukushi H.EUL47 is a major component of the tegument of equine herpesvirus 1 (EHV-1). To determine its function, we used Red/ET cloning to delete its gene (gene 13) from EHV-1 strain Ab4p inserted into a bacterial artificial chromosome (BAC), yielding Ab4pattBΔ13. We also examined the reverted virus (Ab4pattB13R). Ab4pattBΔ13 replicated in rabbit kidney (RK)-13 cells, indicating that ORF13 is dispensable for virus replication in cell culture. Its intracellular and extracellular titers were about 10- and 100-fold lower than those of the revertant and parent strains, respectively. In addition, the plaqu...
Abraham G, Broddet OE, Ungemach FR.In this study, beta-adrenoceptors of intact equine lymphocytes were identified and subclassified by (-)-[125I]-iodocyanopindolol (ICYP) binding. ICYP binding to intact equine lymphocytes was rapid, saturable (maximal number of binding sites 320 +/- 20 ICYP binding sites/cell, n = 12) and of high affinity (KD value for ICYP 14.4 +/- 1.7 pmol/l, n = 12). Binding was stereospecific as shown by the 10 times greater potency of (-)-propranolol to inhibit binding than its (+)-isomer. Beta-adrenoceptor agonists inhibited ICYP binding with an order of potency: (-)-isoprenaline >(-)-adrenaline >(-...
Väihkönen LK, Ojala M, Pösö AR.In red blood cell membranes, the activity of the main lactate carrier, H+-monocarboxylate co-transporter (MCT), varies interindividually and its distribution is bimodal. To show the repeatability of MCT activity, 2 to 5 blood samples were taken, at an interval of approximately 1 year, from 51 Standardbred horses, age 2 weeks-8 years, for a total of 128 observations. The horses could be divided into low (LT) and high (HT) lactate transport activity groups. Age significantly affected (P<0.05) MCT activity such that activity was highest in foals, reached a nadir at 2-3 years, and tended to inc...
Jenner F, Närväinen J, de Ruijter-Villani M, Stout TA, van Weeren PR, Brama P.Equine embryogenesis post implantation is not well studied, and only two-dimensional illustrations are available. A thorough appreciation of the complex three-dimensional relationship between tissues and organs and their development is, however, crucial for understanding physiological and pathological mechanisms. Objective: The goals were 2-fold: 1) to establish a freely accessible online atlas as a reference tool for the scientific and pedagogic communities; and 2) to create a framework for integration of data with known spatiotemporal distribution, such as gene expression or cell lineage. Me...
Retamal C, Urzúa J, Alves EW, López ML.It has been suggested that proteins produced in specific regions of the epididymis, mostly androgen dependent glycoproteins, are involved in the sperm maturation process. In the present work, the glycoconjugated distribution pattern and the electrophoretic characteristics of the stallion epididymal proteins were examined using lectin probes. The identification in the luminal fluid of some new proteins, probably synthesized and secreted by the epididymis, is an important initial step to investigate their interaction with the stallion sperm membrane. The binding of FITC-lectins (ConA, WGA, LPA, ...
Greaves HE, Kalariotes V, Cleaver BD, Porter MB, Sharp DC.The potential involvement of ovarian factors in regulating GnRH and LH postovulation was studied in ovarian intact (Group 1; n=3) and ovariectomized (OVX; Group 2; n=3) mares (OVX within 12 hr of ovulation). Blood samples were collected every 10 min for 6 hr from jugular vein (JV) and intercavernous sinus (ICS) during estrus and on Day 8 postovulation for LH and GnRH analysis. Additionally, JV samples were collected twice daily (12-hr intervals) for 30 days for LH and progesterone (P4) analysis. A significant treatment x day effect (P<0.0001) describes declining plasma LH concentrations in ...
Fernández-Garayzábal JF, LaFrentz S, Casamayor A, Abarca E, Mohammed HH, Cuming RS, Arias CR, Domínguez L, Vela AI.Twenty-two unidentified Gram-positive, rod-shaped organisms were recovered from the conjunctival surface of apparently healthy horses and subjected to a polyphasic taxonomic analysis. Based on cellular morphology and biochemical criteria, the isolates were tentatively assigned to the genus , although they did not match any recognized species. Comparative 16S rRNA gene sequencing studies demonstrated that all of the isolates were phylogenetically members of the genus The isolates shared 99.4 to 100% 16S rRNA gene sequence similarity among the strains and 96.5% similarity with 2385/12, which w...
Ellerbrock RE, Podico G, Scoggin KE, Ball BA, Carossino M, Canisso IF.The expression pattern and distribution of sex steroid receptors and steroidogenic enzymes during development of the equine accessory sex glands has not previously been described. We hypothesized that equine steroidogenic enzyme and sex steroid receptor expression is dependent on reproductive status. Accessory sex glands were harvested from mature stallions, pre-pubertal colts, geldings, and fetuses. Expression of mRNA for estrogen receptor 1 (ESR1), estrogen receptor 2 (ESR2), androgen receptor (AR), 3β-Hydroxysteroid dehydrogenase/Δ5-4 isomerase (3βHSD), P450,17α hydroxylase, 17-20 lyase...
Ginther OJ, Meira C, Beg MA, Bergfelt DR.Deviation during a follicular wave in mares begins when the largest follicle (F1) reaches a mean diameter of 22.5 mm and is characterized by continued growth of F1 to become the dominant follicle and regression of F2 to become the largest subordinate follicle. In the present study, F1 was ablated at the expected beginning of deviation (Hour 0) to provide a reference point for characterizing the intrafollicular changes preceding experimental deviation between F2 and F3. Diameters and concentrations of follicular fluid factors in F2 and F3 were determined in F1-ablated mares at Hours 0, 12, 24, ...
Méténier L, Kaminski M.Immunochemical and enzymatic analyses of horse serum carboxylesterase were carried out with respect to the existence of a silent gene. Sera with positive phenotypic expression of esterase, both heterozygotes and presumed homozygotes, were compared with:--sera with positive phenotypic expression but genotypically +/O;--sera with a negative phenotypic expression, i. e. genotypically O/O;--sera of natural +/O "hemi-zygotes": mules (donkey lacking the esterase);--positive sera heated at 60 degrees C;--positive sera after specific inhibition of enzymatic activity. Titration by immunocompetition has...
Heath E, Aire T, Fujiwara K.A microtubular mass (MM) defect was found in the spermatozoa of 7 Standardbred stallions; 3 stallions were sons of the same sire. Two of these 3 stallions and 2 other stallions (for a total of 4 out of the 7 stallions) were considered subfertile when the defect was first observed. Fertility improved with time, either during the first breeding season or when a given stallion was used less frequently; however, the MM defect persisted, consisting of tortuous arrays of small abnormal microtubules visible only by transmission electron microscopy. The MM probably contained the protein tubulin as ind...
Sharp DC, Garcia MC, Ginther OJ.Luteinizing hormone (LH) was quantified in pony mares during artificially induced sexual maturation. Ovarian follicular development was also assessed by rectal palpation of the ovaries. With the exception of large periovulatory LH concentrations in two mares that ovulated, LH concentrations were not significantly different in mares undergoing sexual maturation and thus having marked follicular development when compared with mares that were not undergoing sexual maturation and thus did not have marked follicular development. These results indicate a dissociation in time between the onset of fol...
Cervantes DT, Ball JM, Edwards J, Payne S.Equine infectious anemia virus (EIAV) causes lifelong infections ranging from acutely fatal, to chronic, to asymptomatic. Within infected animals, EIAV is found as a quasispecies. Many experimental studies on EIAV, carried out in the U.S. over the past 70 years, have used either the highly virulent Wyoming (EIAVWYO) field strain or various derivatives of that strain. These infections have provided insights into the variety of genetic changes that accumulate in the env gene and LTR in experimentally infected horses. In the current study, we obtained EIAV sequences from blood samples collected f...
Hay MF, Allen WR, Lewis IM.Graafian follicles of various sizes obtained from mares at different stages of the oestrous cycle were examined histologically and histochemically for delta5-3beta-hydroxysteroid dehydrogenase (3beta-HSD) activity and related enzymes. The 3beta-HSD activity was not found in the theca interna of any follicles but was present in the membrana granulosa of well-vascularized large follicles in the late luteal phase of the cycle and at oestrus. These findings indicate that pregnenolone cannot be converted into progesterone in the theca interna. It is suggested that this conversion occurs in the memb...
Dierks C, Sieme H, Piechotta M, Lehner S, Merkt JC, Uphaus H, Klug E, Distl O.A female thoroughbred successful in horse racing was positively tested for high testosterone values. This horse neither showed stallion-like-behaviour nor signs of ambiguous external genitalia. The karyotype of this horse was 2n = 64,XY and the sex-determining region of Y (SRY) PCR was positive. Hair samples tested for naturally testosterone revealed values normal for stallions, and tests for eight synthetic testosterone esters remained negative. The phenotype, ultrasonographic examination, hormone status, cytogenetic evaluation and molecular diagnostics lead to the diagnosis of an XY testicul...
Buff PR, Messer NT, Cogswell AM, Wilson DA, Johnson PJ, Keisler DH, Ganjam VK.Endocrine characteristics of Quarter Horse-type mares were determined during a 68 h feed deprivation and again in the same mares following surgical thyroidectomy (THX). A crossover experimental design was implemented, in which mares received brome hay available ad libitum (FED) or were food deprived (RES) for 68 h. Blood samples were collected every 20 min for 48 h, beginning 20 h after the onset of food deprivation. Concentrations of triiodothyronine and thyroxine were undetectable post-THX. Plasma concentrations of thyrotropin were greater post-THX versus pre-THX (P<0 x 001). Plasma conce...
Dougherty SS, Santangelo KS, Bertone AL.To evaluate 2 commercially available transfection reagents for transfection efficiency and distribution of small interfering RNA (siRNA) molecules to chondrocytes in monolayer cultures and full-thickness cartilage explants from guinea pigs and horses. Methods: Cartilage explants from 5 one-month-old and 3 adult guinea pigs and 5 adult clinically normal horses. Methods: Monolayer chondrocytes and uniform cartilage explants were exposed to 1 of 2 siRNA transfection complexes according to manufacturers' protocols (1μM [1×]). Additionally, monolayer chondrocytes were exposed to 2× the suggested...
Ou J, Li J, Wang X, Zhong L, Xu L, Xie J, Lu G, Li S.The family comprises many major viral pathogens that can infect humans and multiple other species, causing severe diseases. However, knowledge of parvoviruses that infect equids is limited. In the present study, we found that three equine parvoviruses (EqPVs), namely, equine parvovirus-hepatitis (EqPV-H), equine parvovirus-cerebrospinal fluid (EqPV-CSF) and equine copivirus (EqCoPV) cocirculated among horses in China. We examined the prevalence of these three EqPVs in 225 horse serum samples in China and found EqPV-H, EqPV-CSF and EqCoPV viremia in 7.6% (17/225), 2.7% (6/225) and 2.2% of samp...
Deriusheva SE, Loginova IuA, Chiriaeva OG, Iasinetskaia NI, Efimov AM.Restriction endonuclease in situ digestion of metaphase chromosomes gives an opportunity to reveal strips with different structure within GC-rich pericentric heterochromatin of the domestic horse and the wild Przewalski horse. Blocks of heterochromatin, which are insensitive to HaeIII and brightly stained with chromomycin A3 after restriction enzyme digestion, are localized on the border with euchromatin in the majority of chromosomes of Equus caballus and E. przewalskii. In contrast to chromosome 5 of E. caballus, acrocentric chromosomes of E. prezewalskii which are homologous to this chromos...
Weitkamp LR, Kenney RM, Bailey E, MacCluer JW, Brown JS, Blanchard TL, Sertich PL, Love CC, Hunt PR.Histological features of the endometrium, as assessed in biopsy samples, were related to Standardbred mare genotypes for transferrin, esterase (as a control) and equine leucocyte antigens (ELA). Pathological changes were found more frequently in each successively older age group of mares. Among mares aged 6-19 years, there were significant pathologic changes on first examination following an infertile breeding season for 46 of 90 (51%) of transferrin homozygotes and 50 of 146 (34%) of transferrin heterozygotes. The difference between the two groups was significant for the total data (chi 1(2) ...
Darmani Kuhi H, Hossein-Zadeh NG, France J, López S.A better knowledge of the growth of horses can facilitate sounder intervention in their health control, nutrition and management. This study compared five growth functions with either diminishing returns (monomolecular and Michaelis-Menten) or asymptotic sigmoidal (Gompertz, Richards and Lopez) behavior for describing the growth curves of horses, based on the relationship between a given somatic growth trait (body weight, withers height, or body weight to withers height ratio) and age. Data used in this study were those available in the literature for quarter horse males and thoroughbred foals...
Watson ED.Corpora lutea were recovered from mares either 4 to 5 days or 12 to 13 days after ovulation. Mixed populations of luteal cells were prepared by collagenase digestion and were incubated for 24 h in the presence or absence of prostaglandin (PG) F-2 alpha (250 ng/ml). PGF-2 alpha significantly (P = 0.03) reduced progesterone secretion by cells from late diestrous corpora lutea and tended (P = 0.06) to reduce secretion by early diestrous cells. PGF-2 alpha had no significant effect on leukotriene B-4 (LTB-4) production by cells from early diestrous corpora lutea, but significantly (P = 0.03) incre...
Kikuchi K, Sasaki K, Akizawa H, Tsukahara H, Bai H, Takahashi M, Nambo Y, Hata H, Kawahara M.Insulin-like growth factor 2 (IGF2) is responsible for a broad range of physiological processes during fetal development and adulthood, but genomic analyses of IGF2 containing the 5'- and 3'-untranslated regions (UTRs) in equines have been limited. In this study, we characterized the IGF2 mRNA containing the UTRs, and determined its expression pattern in the fetal tissues of horses. The complete equine IGF2 mRNA sequence harboring another exon approximately 2.8 kb upstream from the canonical transcription start site was identified as a new transcript variant. As this upstream exon did not cont...
Yudkowsky ML, Beech J, Fletcher JE.In equine hyperkalemic periodic paralysis (HyperPP), there is evidence suggesting that the primary defect in the sodium channel is associated with a secondary alteration in triacylglycerol-associated fatty acid metabolism (TAFAM) in skeletal muscle. Furthermore, TAFAM may be involved in the therapeutic action of phenytoin. The effects of phenytoin treatment on the transcript levels of three key proteins in TAFAM, hormone sensitive lipase (HSL), carnitine palmitoyltransferase (CPT), and fatty acid binding protein (FABP), were examined. These transcripts were quantitated by competitive reverse t...
Ząbek T, Semik E, Szmatoła T, Oklejewicz B, Fornal A, Bugno-Poniewierska M.Methylation profiles across three CpG islands of the RNASEL gene were determined in blood leukocyte samples of Anglo-Arabian and Hucul horses. Bisulfite sequencing revealed hypomethylated state of the RNASEL promoter coinciding with methylated CpG island placed inside the gene. Several CpG sites were identified for which the methylation state was influenced by DNA polymorphism. Two of them showed monoallelic methylation. One of the CpG sites revealed functional polymorphism. A number of partially methylated CpG sites have been observed in the promoter area of RNASEL, which were used for the co...
Watson JL, Jackson KA, King DP, Stott JL.Expression of the low-affinity IgE receptor (CD23) on the surface of mononuclear cells is a critical event in the development of IgE-mediated immunologic responses. Using PCR and cDNA library screening, a 2.7kb cDNA encoding equine CD23 and a 627bp PCR fragment of cattle CD23 were sequenced and characterized. The equine CD23 sequence encodes a complete and continuous open reading frame of 327 amino acids, while the shorter cattle fragment encodes 209 amino acids corresponding to nucleotides 325-1098 of the equine CD23 transcript. In addition to high identities in their nucleotides and translat...
Zsoldos RR, Khayatzadeh N, Soelkner J, Schroeder U, Hahn C, Licka TF.Type 1 polysaccharide storage myopathy caused by genetic mutation in the glycogen synthase 1 gene is present in many breeds including the Noriker and Haflinger horses. In humans, EMG has already been used to document changes in the muscle activity patterns of patients affected by human glycogen storage disorders. Therefore, the aim of the present study was to describe gluteus muscle activity with surface electromyography (sEMG) in Haflinger and Noriker horses with known GYS1 mutation status during walk and trot. Thirty-two horses (11 Haflinger and 21 Noriker horses) with homozygous non-affecte...
Watson ED, Sertich PL, Zanecosky HG.Ovulation has been likened to an inflammatory process. Inflammatory cells accumulate in the ovulating follicle, presumably because of chemotactic factors. Chemotactic activity was measured in fluid aspirated from follicles of estrous mares 0, 12, 24, and 36 hours after ultrasonographic detection of a 35-mm follicle and IV treatment with 2,500 IU of human chorionic gonadotropin. Chemotaxis was assessed by measuring directional migration of equine neutrophils under agarose. Follicular fluid acted as a chemoattractant for neutrophils, but there was no significant difference in chemotactic activit...
Pinzón-Osorio CA, Cortés-Beltrán D, Sanchez-Isaza CA, Jiménez-Robayo LM, Lozano-Márquez H, Zambrano-Varón J, Jiménez-Escobar C.A 4-year-old Colombian Creole mare was presented for diagnosis because the external orifice of her cervix was not detectable when a uterine lavage as therapy for uterine fluid accumulation was attempted. Clinical and ultrasonographic evaluation of the genital tract revealed that ovaries were of normal size and showed structures suggestive of regular ovarian activity. However, granular free-floating fluid material distending the uterus was detected by ultrasound. Upon vaginal examination, the normal external cervical morphology was not evident. The vagina ended in a blind bag with a small papil...
