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Topic:Alleles
Alleles in horses refer to the different versions of a gene that exist within the equine genome, contributing to the diversity of traits observed in horse populations. These genetic variations can influence a wide range of characteristics, including coat color, height, temperament, and susceptibility to certain diseases. Understanding alleles is crucial for breeding programs, as they help predict the inheritance of desirable traits and manage genetic disorders. Common examples include the alleles responsible for coat color variations, such as the Extension (E) and Agouti (A) loci. This page compiles peer-reviewed research studies and scholarly articles that explore the identification, function, and impact of alleles on equine genetics, offering insights into their role in shaping the phenotypic and health-related traits of horses.
Polymorphic restriction sites in the horse beta-globin gene cluster. 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...
DNA polymorphism in the major histocompatibility complex of man and various farm animals. In the past few years it has been possible by combining enzymatic cleavage of genomic DNA and the Southern blot hybridization technique to explore the endonuclease recognition site polymorphism of the MHC. HLA class I and DR and DQ alpha and beta class II specific probes as well as human C4 and Bf class III probes were used. All these probes were shown to cross-hybridize with DNA from pigs, cattle, sheep and horses. Hybridization of human genomic DNA with a class I probe showed 15-25 bands per genome depending on the enzyme used. Distinct endonucleases generated clusters of restriction fragmen...
Equine leucocyte antigens in sarcoid-affected horses. The distribution of equine leucocyte antigens (ELA) in horses affected by equine sarcoid tumours was determined and compared with unaffected controls. ELA-haplotype W3,B1 occurred more frequently in affected riding horses of Irish, Swiss and French background. The combined data for the three breeds resulted in a chi 2 value of 20.35 (P less than 0.0005 after correction). Simultaneously, ELA-specificity W11 was more frequently found in horses of Irish background, while W5 was found in Swiss and French horses with sarcoids. The combined data for haplotype W3,B1 and/or W5 specificity demonstrated...
Blood group and protein polymorphism gene frequencies for seven breeds of horses in the United States. Gene frequencies at 20 blood group and protein polymorphism loci (A, C, D, K, P, Q, U, Al, Tf, Pi, Xk, Es, Gc, PGD, CA, Cat, PGM, AP, Hb and PHI) are given for seven horse breeds in the United States (Thoroughbred, Arabian, Standardbred, Morgan, Quarter Horse, Paso Fino and Peruvian Paso). These data are used to calculate that the battery of tests is at least 96% effective for recognizing incorrect paternity in these breeds. In addition to paternity testing, these tests can be applied to studies of breed relationships.
Equine lymphocyte antigens in four major Belgian horse populations. Contribution to serology and antigen distribution. 158 Belgian Saddlebreds, 130 Belgian Trotters, 108 Belgian Draft horses and 92 Shetland ponies have been typed for serologically defined antigens at the ELA and ELY systems. Gene frequencies were estimated in each breed for the internationally established ELA, ELY-1 and ELY-2 alleles as well as for locally assigned additional ELA markers and for subtypes of ELA-W3, W9 and W11. The distribution of ELA alleles was in agreement with the expected Hardy-Weinberg equilibrium for the 4 horse breeds described here. Differences in gene frequencies between these main Belgian horse populations were obser...
Genetic organization of the polymorphic equine alpha globin locus and sequence of the BII alpha 1 gene. The equine alpha globin gene complex comprises two functional alpha genes and an alpha-like pseudogene arranged in the order 5'-alpha 2-(5kb)-alpha 1-(3kb)-psi alpha-3'. A single (embryonic) zeta-like sequence lies within a 12 kb region 5' to the alpha 2 gene. We have determined the sequence of the alpha 1 gene of the BII haplotype, one of two most common haplotypes (the other being BI) which encode alpha globins with either Tyr (BI) or Phe (BII) at codon 24 in both linked alpha genes. In BI and BII the non-allelic alpha 2 and alpha 1 genes respectively code for Gln or Lys at codon 60, thus ac...
Direct evidence for linkage of roan and extension loci in Belgian horses. A bay roan Brabant Belgian stallion (ERn/ ern) was bred to eight chestnut American Belgian mares (ern/ ern), producing 57 foals. Thirty foals were bay roan, 25 were chestnut, one was bay, and one was chestnut roan. The recombination rate was 0.035 +/- 0.024, indicating fairly close linkage between the roan (Rn) and extension (E) loci.
Obtaining of pure transferrins D, M and R from equine serum and determination of transferrin level in relation to phenotype. By the method of precipitation with Rivanol (2-ethoxy-6,9-diaminoacridine lactate) and ammonium sulphate followed by chromatography on DEAE cellulose three genetic variants of transferrin were purified from equine serum: D, M and R. Their molecular mass determined in this study was 80 000, and it was identical for all three variants, which differed slightly in their amino acid composition. The protein level was determined in the serum of 535 two-year-old thoroughbred English horses by the method of rocket immunoelectrophoresis using antibodies obtained against three transferrins. The individua...
Comparison of ELY-2.1 with blood group and ELY-1 markers in the horse. The distribution of ELY-2 was compared to the distribution of blood group factors Aa, Ab, Ac, Ae, Ca, Da, Db, Dc, Dd, De, Df, Dh, Dk, Ka, Pa, Pb, X, Qa, Qc, Ua, and W in 2465 American Standardbred horses and to ELY-1 in 193 American Standardbred horses. The distribution patterns were different in each case. The segregation of ELY-2.1 and factors at the A, C, D, K, P, Q, U and T (W) blood group loci and at the ELA locus indicated that ELY-2.1 is not a product of any of those loci. No segregation data were available for the ELY-1 locus. Family studies indicated that the gene for ELY-2.1 is not s...
The plasma protease inhibitor system (Pi) of Standardbred horses. The plasma protease inhibitor system (Pi) of Standardbred horses was studied by thin-layer, high-voltage, acid polyacrylamide gel electrophoresis (pH 4.6) followed by protein staining and staining for trypsin and chymotrypsin inhibition. In addition to the eight Thoroughbred alleles (PiF, G, I, L, N, S1, S2, U), another 10 alleles, designated PiH, J, K, O, P, Q, R, V, X, Z, were postulated to account for the 98 Pi types which were observed in Standardbreds. Detailed inhibitory spectra of the 'new' alleles were determined and further exceptions to the Pi1, Pi2 classification of Juneja et al. (1...
Two-dimensional electrophoresis of horse serum proteins: genetic polymorphism of ceruloplasmin and two other serum proteins. Two-dimensional agarose gel (pH 8.6)-horizontal polyacrylamide gel (pH 9.0) electrophoresis of horse serum proteins revealed genetic polymorphism of ceruloplasmin (Cp) and two unidentified serum proteins tentatively designated serum protein 1 (SP1) and serum protein 2 (SP2). Family data were consistent with the hypothesis that the observed Cp and SP1 phenotypes were each controlled by two codominant, autosomal alleles. The three common SP2 phenotypes were shown to be controlled by two codominant, autosomal alleles. Population data and limited family data indicated the occurrence of two additio...
Lymphocyte alloantigens of the horse. III. ELY-2.1: a lymphocyte alloantigen not coded for by the MHC. A new polymorphic locus of the horse which has several unusual properties is described. The suggested name for the locus is ELY-2. The gene product of one allele at this locus, designated ELY-2.1, has been identified with antisera raised as a result of pregnancy. Antibody to ELY-2.1 was first detected on day 55 after conception in the serum of a mare in first pregnancy. This early onset of antibody is similar to that seen for antibody to ELA antigens, and suggests that the source of the antigenic stimulus may be the tissue of the equine endometrial cups. The antisera identifying ELY-2.1 are cy...
Linkage of the equine serum esterase (Es) and mitochondrial glutamate oxaloacetate transaminase (GOTM) loci. A horse-mouse homology. Three previously described electrophoretic phenotypes of mitochondrial glutamate oxaloacetate transaminase (GOTM) in horse leukocytes are shown to be controlled by two codominant alleles at a single autosomal locus. The GOTM locus is linked to the serum esterase locus (Es), as no recombination between these loci was observed among 16 informative offspring in one sire family. The results assign GOTM to equine linkage group (LG) II. The hypothesis that a part of LG II (e-Es) shares homologies with mouse chromosome 8 is thus confirmed, as the murine homologue of GOTM is located within the cluster...
The genetic control of antibody formation. Studies of the molecular biology of lymphoid cells have markedly increased our understanding of how millions of different antibodies can be synthesized by a single animal. To date, the most detailed understanding has been achieved for the mouse, primarily because of the relatively greater experimental availability of this species. These studies, as well as those involving other species, have shown that the complete genes for antibody polypeptide chains are assembled from disparate genetic elements which are originally widely separated in the genome. The assembly process itself, together with t...
Population studies on the ELA system in American standardbred and thoroughbred mares. 336 Standardbred mares and 334 Thoroughbred mares in the vicinity of Lexington, Kentucky, were lymphocyte typed for 11 allelic antigenic specificities of the equine lymphocyte antigen (ELA) system. The Standardbred mares were divided into a population of pacers and a population of trotters. Substantial differences in ELA gene frequencies were found between the 3 groups. When the distribution of antigens within populations were compared to Hardy-Weinberg equilibrium expectations, relatively good agreement was found.
Genetics of four plasma protein loci in Equus przewalskii: new alleles at the prealbumin, postalbumin and transferrin loci. This paper reports genetic variation at the prealbumin (Pr), postalbumin (Pa) and transferrin (Tf) loci in Equus przewalskii found using thin layer isoelectric focusing and an amphoteric separator. The method resolves all three loci plus serum esterase (Es) on a single gel, and typing of all four loci is readily achieved. In addition to the esterase alleles previously reported by Fisher & Scott (1979), five alleles were found at the Pr locus, three at the Pa locus and six at the Tf locus. Analysis of several mating types confirms inheritance is autosomal and codominant for all four loci.
Equine marker genes: polymorphism for plasminogen. Polymorphism for two autosomal alleles of equine plasminogen, PLG1 and PLG2, was demonstrated in plasma by isoelectric focusing and immunofixation, with a goat anti-human plasminogen antibody. The frequency of PLG2 was 0.16 in 150 Standardbreds, 0.20 in 96 Thoroughbreds, and 0.39 in 32 Shetland ponies. No evidence for linkage of PLG with any of 13 marker loci was found.
Characterisation of the alpha 1-protease inhibitor system in Thoroughbred horse plasma by horizontal two-dimensional (ISO-DALT) electrophoresis. 1. Protein staining. The isoelectric points and the molecular weights of the major components of the eight Thoroughbred protease inhibitor (Pi) types have been determined by polyacrylamide gel isoelectric focusing and polyacrylamide gel pore gradient (ISO-DALT) electrophoresis respectively. The major Pi proteins focus in the range pH 3.74-4.43 and have molecular weights ranging from 55 000-72 000 daltons. Using the ISO-DALT method of electrophoresis, protein maps for the eight Thoroughbred Pi types have been presented for the first time. None of the homozygous Pi types are identical except for the types S1 and S2 ...
Linkage disequilibrium between the ELA and the A blood group systems in Standardbred horses. The linkage group formed by the ELA and A blood group system in horses was studied in American Standardbred horses. The distance between the ELA locus and the A blood group locus was measured as 1.61 centimorgans, observing only the haplotypes contributed by the sires. Strong linkage disequilibrium was found in pacing Standardbred horses for ELA-W1 with Aa, ELA-W5 with Ab and ELA-W10 with Ab. Linkage disequilibrium was apparent at both the population and family level. Among trotting Standardbred horses, linkage disequilibrium was found for ELA-W1 with Aa and for ELA-W10 with Ab. It was not pos...
Joint report of the First International Workshop on Lymphocyte Alloantigens of the Horse held 24-29 October 1981. Six equine lymphocyte alloantigen (ELA) specificities were defined by an international antiserum comparison test and workshop held in 1981. Twelve laboratories from four countries submitted 195 antisera for analysis. The antisera were exchanged among the 12 laboratories and tested in a standard lymphocyte microcytoxicity assay against the isolated lymphocytes at 1009 horses of several breeds. The data was pooled and analysed by a single computer analysis. The calculated chi 2 values of all cells with all antisera provided comparisons between antisera. Fifteen antisera clusters were formed by t...
Structure and function of the major histocompatibility complex in domestic animals. The major histocompatibility complex (MHC) is a genetic region that has been intensively studied for the past 2 decades. Interest in the MHC has been high because of (i) the particular involvement of the MHC in transplantation reactions, including organ allograft rejection in human beings; and (ii) the more general role of MHC gene products in the genetic control of immune responses in all mammals. The MHC has several remarkable properties that include a distinctive genetic structure which has been well-preserved through evolution, and the extreme plasticity of form of the principal MHC genes,...
Equine leucocyte antigen system. III. Non-MHC linked alloantigenic system in horses. A new, non-MHC linked alloantigenic membrane antigen on the equine lymphocytes is described. This antigen was characterized with alloantisera in the two-stage microcytotoxicity test and designated as ELy-1 antigen. The frequency of ELy-1 antigen positive animals in various populations is close to 50%. ELy-1 shows an autosomal, dominant inheritance. Since an allelic antigen (s) could not be demonstrated in family studies, it is assumed that only two alleles ELy-1+ and ELy-1- exist. The ELy-1 antigen in positive animals is expressed on both T and B lymphocytes but it is not present on erythrocyt...
Lymphocyte alloantigens of the horse. I. Serologic and genetic studies. A genetic system controlling lymphocyte alloantigens of the horse is described. Alloantisera to paternal histocompatibility antigens induced as a result of pregnancy in mares were used in an antibody-mediated complement-dependent microcytotoxicity assay to define 15 Equine Leukocyte Antigen (ELA) specificities using cluster analysis. In this study 369 sera were screened for alloantibody using lymphocytes from 10 randomly selected, unrelated horses. A high proportion (83%) of these sera were found to be positive for antibody to lymphocyte alloantigens. After initial cluster analysis, 120 of the...
A linkage group composed of three coat color genes and three serum protein loci in horses. The equine coat color genes chestnut (e) and roan (Rn) have been tested for linkage to 15 protein and blood group loci. Data showing close or fairly close linkage to the serum albumin locus (Al) and loose linkage to the serum esterase locus (Es) for both e and Rn are presented. This means that three coat color genes (To, e and Rn) and three serum protein loci (Al, Gc, and Es) are linked in the same linkage group. The gene order can tentatively be written Al, Gc, Rn, To-e-Es. The implications of the results for studies on coat color inheritance in horses are discussed. The possibility of using ...
Major histocompatibility locus in the Arabian horse. Combined immunodeficiency disease (CID) is a genetic disorder of T and B lymphocyte production which results in a nonfunctional immune system. It is inherited as an autosomal recessive trait and has been reported in humans and in horses of the Arabian breed. Arabian horses known to have the CID gene and horses of unknown carrier status were tested using a microlymphocytotoxicity technique. Computer chi 2 analysis distinguished six serologically defined specificities. The study of unrelated horses and a limited number of families showed that the specificities behave as codominant alleles segreg...
A contribution to the D system in horses. The inheritance of a new D system red cell antigen, factor 22, is described. It has also been possible to discriminate more efficiently between D system phenogroups enabling genotypes to be identified from phenotypes in the majority of cases. This improves the accuracy of animal identification and gene frequency estimates.
Equine marker genes: Polymorphism for soluble erythrocyte malic enzyme. Polymorphism of equine erythrocyte malic enzyme is detactable on starch gel electrophoresis. The frequency of ME1S was 0.06 in 667 Standardbred and 0.09 in 85 Thoroughbred horses. No genetically determined electrophoretic variation in soluble malate dehydrogenase was detected.
Equine leukocyte antigen system. II. Serological and mixed lymphocyte reactivity studies in families. Mono- and oligospecific lymphocytotoxic alloantibodies from primiparous mares were tested on cells from horse families of various breeds in the two-step microcytotoxicity assay. The results showed that the detected antigens were inherited co-dominantly and autosomally as simple Mendelian traits. The membrane antigens showed different linkage with one or more other antigens and seem to be coded by a limited number of loci (at least three) from one chromosome. In the families tested one recombinant for the serologically defined antigens was recognized. The mixed leukocyte reactions of cells from...
