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.
Hultgren BD.Pulmonary lobar hypertrophy was diagnosed in a 4-hour-old Quarter Horse full-term foal that had respiratory arrest shortly after birth. The gross and microscopic appearances were consistent with polyalveolar lobe, a congenital anomaly of human infants.
Smith JE, Cipriano JE, DeBowes R, Moore K.Values for serum ferritin, serum iron, and serum total-iron binding capacity were determined in 100 hospitalized horses. Six foals had iron deficiency, as indicated by low serum ferritin and iron concentrations. Twenty-eight horses had low serum iron content and normal or high serum ferritin content and were considered to have pseudo-iron deficiency, possibly in response to infection. Ten horses had serum ferritin concentrations that were quite high, probably indicating iron overload.
Nation PN, Klavano GG.This account describes two neonatal foals affected with osteopetrosis. One of these foals, a full term Peruvian Paso, was born alive, was bright and alert but was unable to stand and was euthanized at two days of age. The second foal, an Appaloosa, was also born alive at full term and was blind, weak, uncoordinated and unable to stand. Postmortem examination of both foals revealed generalized osteopetrosis and brachygnathia inferior. The osteopetrosis was characterized by failure of bone remodelling resulting in spicules of mineralized and nonmineralized cartilage covered by osteoid occupying ...
Antczak DF, Bailey E, Barger B, Guerin G, Lazary S, McClure J, Mottironi VD, Symons R, Templeton J, Varewyck H.The Third International Workshop on Lymphocyte Alloantigens of the Horse was held on 25-27 April 1984 in Kennett Square, Pennsylvania. Twelve laboratories from five countries participated. The principal purpose of this Workshop was to determine the phenotypic and gene frequencies of the 10 equine lymphocyte antigens (ELA) and a non-ELA lymphocyte antigen, ELY-2.1, in several breeds of horse. A total of 86 alloantisera characterized in previous workshops were tested against lymphocytes from 1179 horses. In addition, several experimental antisera were also tested against the same panel of lympho...
Mäkinen A, Katila T, Kuokkanen MT.Only one X chromosome was found in each of the lymphocyte metaphases studied in an infertile mare. Karyotype analysis was made with the CBG and GTG banding techniques. The most obvious clinical abnormality was gonadal hypoplasia.
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,...
Magnuson N, Perryman L, Wyatt C, Mason P.Severe combined immunodeficiency (SCID) occurs in horses of the Arabian breed and is inherited as an autosomal recessive trait1. Affected foals are severely lymphopenic with an absence of functional B and T lymphocytes.2 The few lymphocytes that can be found in affected foals resemble large granular lymphocytes (LGL) and can be grown long-term with media containing interleukin-2 (IL-2).3 The disorder is restricted to the lymphoid system, as other leukocytes are functionally and quantitatively normal.4
Stanek C, Hantak E.POLYDACTYLY is perhaps the most frequently reported congenital phalangeal anomaly in horses and, with reference to the stallion Boukephalos ridden by Alexander the Great, it has commanded attention since antiquity (Leipold and MacDonald 1971). Polydactylism is defined as the occurrence of a larger number of digits than typical for a certain species. It has been described in horse, cattle, swine, dog, cat, pigeon, poultry and guinea pig as well as in man (Wiesner and Willer 1974). In horses, the supernumerary digit is found in the forelimb in about 80 per cent of cases, and mainly on the medial...
Cho DY, Taylor HW.Blind-end atresia coli was observed in two genetically unrelated foals at about the same time and location. The two foals, one an Appaloosa and the other a Quarterhorse, were born 4 days apart on nearby but separate farms. The Appaloosa foal died after surgical anastomosis of the affected segments of the colon. The Quarterhorse foal was euthanized after the defect was found at laparotomy. Both foals were necropsied and representative tissues were examined histopathologically. Histopathologic results were unremarkable. No cause of the defects could be determined and the timing and geographical ...
Gomez-Perretta C, Armas-Portela R, Stockert JC, Tato A, Ferrer JM.The acidophilic reaction of eosinophil leucocyte granules from human, pig and horse blood smears was investigated by using May-Grünwald-Giemsa staining after previous treatment with EDTA and sodium citrate solutions. The same peak at 530 nm, but absorption values considerably higher than those of controls, were found in eosinophil granules after application of chelating agents, indicating that removal of metal cations could unmask basic groups in these structures.
Hollanders B, Mougin A, N'Diaye F, Hentz E, Aude X, Girard A.A new two-step gradient technique has been used in the separation of the different classes of lipoproteins from the serum of cows, horses, dogs, pigs, rabbits and rats. Total lipoproteins were first isolated at d 1.21 then floated through a d 1.006 to d 1.21 gradient. Collection by mean of a gradient fractionator provided directly comparable lipoprotein profiles, allowed the determination of the exact density range of each lipoprotein class and the fraction by fraction analysis of composition. Cholesterol and apo AI recoveries were high. Horse, dog, rabbit and pig exhibited three distinct lipo...
Bowling AT.Preliminary evidence for the fifth autosomal linkage group in the horse, comprised of the loci for a red cell alloantigen (U) and serum protease inhibitor (Pi), was demonstrated by means of paternal half-sib groups in thoroughbred, standardbred and Arabian breeds. Recombination frequency in males was estimated to be 0.125 +/- 0.019.
Bailey E.Segregation distortion was found for a haplotype of the equine lymphocyte antigen (ELA) system in an extended family of American Standardbred horses. In one sire family, consisting of a stallion and his 17 sons and grandsons, the gene for ELA-A10 (A10) was transmitted to 57.7% of 638 offspring scored (P = 0.001). Significant segregation distortion was not seen for mares or for unrelated stallions, regardless of the ELA markers they possessed. Since the effect was seen for this one sire family and not seen for other stallions with A10, it is unlikely that the gene for A10 is the cause of this p...
Hawkins KL.Bilateral salpingitis, hydrosalpinx and oophoritis were diagnosed in a mare with concurrent lymphosarcoma. Salpingitis, hydrosalpinx and oophoritis are rare in the mare (1,2,3,5,8,9,11-13). Bilateral salpingitis is an important cause of infertility in all species and is most often due to ascending infection (3-5,10,11). The source of salpingitis in this mare probably was ascending infection from the uterus after parturition. The apparent infertility of the mare was attributed to debilitation from the lymphosarcoma and multiplicity of genital pathoses.
Dubin A, Potempa J, Kurdowska A, Pajdak W, Koj A.Alpha-1-proteinase inhibitors isolated from plasmas of horse, ox, pig, rabbit and man were used for determination of some kinetic parameters of interaction with three horse leucocyte proteinases and bovine pancreatic trypsin and chymotrypsin. Effective molar ratio of enzyme-to-inhibitor, inactivation rate constant and inhibition constant were measured. In horse, ox, pig and rabbit two principal electrophoretic forms of alpha 1-PI could be distinguished. Both forms effectively inhibited trypsin but usually only one form reacted promptly and stoichiometrically with chymotrypsin and leucocyte ela...
Kay PH, Dawkins RL, Bowling AT, Bernoco D.Plasma or serum samples from 12 Arabian and 181 standardbred horses have been typed using an immunofixation technique to determine electrophoretic polymorphism of equine third complement component (C3). Six distinctly different electrophoretic patterns of equine C3 have been recognized thus far. SDS PAGE analysis of equine C3/anti C3 complexes revealed that the submolecular structure comprised an alpha chain and beta chain of molecular weights approximately 118,000 and 63,000 daltons respectively. The molecular weights of the alpha and beta chains were similar in all electrophoretic variants t...
Dubin A, Potempa J, Schnebli HP, Koj A.Highly purified horse leucocyte proteinases 1, 2A and 2B hydrolyze synthetic substrates which are decomposed also by human leucocyte elastase but they are unable to hydrolyze typical substrates of cathepsin G. Thus in distinction to other mammalian species horse leucocytes are devoid of cathepsin G and contain only elastases.
Kent MG, Shoffner RN, Buoen L, Weber AF.The XY sex-reversal syndrome occurs when a phenotypic mare is born that has the karyotype of a stallion. The syndrome is manifested by both genotypic and phenotypic heterogeneity. The sex-reversed genetic condition occurs frequently within certain pedigrees where XY females have been found and can be readily detected by chromosome karyotyping. The phenotypic spectrum ranges from the feminine mare with a reproductive tract that is within normal limits to the greatly masculinized mare. Pedigree analysis suggests that there are two modes of inheritance: (1) an X-linked recessive or autosomal sex-...
Lew AM, Valas RB, Maloy WL, Coligan JE.Horse serum is shown to contain a soluble class I molecule analogous to the secreted Q10 molecule in the mouse. This molecule has several similarities to the recently described mouse Q10 molecule: it is smaller than membrane-bound equine class I molecules; it occurs in a high molecular mass complex of 200-300 kd in serum; and the serum levels of the equine molecule are similar to that of the Q10 molecule (about 30 micrograms/ml). A soluble molecule is also detected in the sera of species related to the horse; it has in fact been found in all the wild members of the order Perissodactyla so far ...
Rando A, Di Gregorio P, Masina P.Horse DNA samples digested with PstI and probed with the rabbit beta 1 globin gene show three phenotypes determined by one fragment of variable length (about 5.1 or 3.3 kb). Family data demonstrate that these fragments segregate as Mendelian alleles. The frequencies of the two alleles are 0.66 for the 3.3-kb fragment and 0.34 for the 5.1-kb one. Another polymorphism has been detected with BamHI. Again three phenotypes determined by two alleles (fragments of 7.5 and 3.8 kb) have been observed. Allelic frequencies of the 7.5- and 3.8-kb fragments are 0.24 and 0.76 respectively. The two polymorph...
Boyd JS.The deformities observed in 2 Clydesdale foals are described. Both had abnormal joint positions in the forelimbs and discrepancies in the symmetry of the vertebral column. The changes were only mild in one case but extreme in the other where it was accompanied by torticollis, scoliosis and vertebral fusion. A comparison is made with deformities described in the contracted foal syndrome and some of the developmental implications discussed.
Franco MM, Santos JB, Mendonça AS, Silva TC, Antunes RC, Melo EO.The domestication of the Equus genus 5000-6000 years ago has influenced the history of human civilization. As soon as horse and donkey species had been domesticated, they were crossbred, producing humanity's first documented attempt at animal genome manipulation. Since then, the mule (male donkey x female horse) and the reciprocal cross (the hinny, male horse x female donkey) have been the most common equine hybrids in the world. Due to their hybrid vigor, mules and hinnies have been intensively used for carrying loads and people and for tilling the land. Despite their importance, visual disti...
Jabusch JR, Deutsch HF.The amino acid sequence of the high-activity equine erythrocyte carbonic anhydrase (CA-II) has been determined. Two different N-termini are noted, the C1 form having an N-acetyl-serine and the C2 form an N-acetyl-threonine. The sequence of the equine enzyme is most homologous to the human CA-II isozyme, with 224 of the 259 residues being identical.