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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.
Correlation between the individual heterozygosity of parents and their offspring.
Heredity    July 1, 1993   Volume 71 ( Pt 1) 59-63 doi: 10.1038/hdy.1993.107
Mitton JB, Schuster WS, Cothran EG, De Fries JC.Specific formulations are derived for the correlation between the heterozygosity of a randomly mating parent and its offspring for a diallelic locus, and for the correlation when multiple loci are considered. The expected correlation is maximal, approaching r = 0.50, when allelic frequencies are highly asymmetric, and it is zero when the allelic frequencies are equal to 0.50. Parent-offspring correlations, up to a maximum of 0.50 for diallelic loci, indicate that levels of heterozygosity can respond to selection. Multilocus allozyme data from limber pine, Pinus flexilis, and from horses of sta...
DNA sequence analysis of serologically detected ELA class II haplotypes at the equine DQ beta locus.
Animal genetics    June 1, 1993   Volume 24, Issue 3 187-190 doi: 10.1111/j.1365-2052.1993.tb00285.x
Szalai G, Bailey E, Gerber H, Lazary S.The genetic diversity at the ELA DQ beta locus was investigated using polymerase chain reaction and DNA sequencing. Based upon serological methods 16 class II homozygous animals were selected and their genomic DNA was used. A DQ beta gene from an equine cDNA library was also sequenced. Our methodology and the similarity between the genomic and the cDNA sequences suggest that the studied locus is expressed on equine lymphocytes. In the predicted amino acid sequence the most extensive variation is located at residues 56-60. The pattern of these five amino acids is strongly correlated to the sero...
Characterization of a novel variant of amino acid transport system asc in erythrocytes from Przewalski’s horse (Equus przewalskii).
Canadian journal of physiology and pharmacology    August 1, 1992   Volume 70, Issue 8 1117-1127 doi: 10.1139/y92-155
Fincham DA, Ellory JC, Young JD.In thoroughbred horses, red blood cell amino acid transport activity is Na(+)-independent and controlled by three codominant genetic alleles (h, l, s), coding for high-affinity system asc1 (L-alanine apparent Km for influx at 37 degrees C congruent to 0.35 mM), low-affinity system asc2 (L-alanine Km congruent to 14 mM), and transport deficiency, respectively. The present study investigated amino acid transport mechanisms in red cells from four wild species: Przewalski's horse (Equus przewalskii), Hartmann's zebra (Zebra hartmannae), Grevy's zebra (Zebra grevyi), and onager (Equus hemonius). Re...
[Genetic differentiation between breeds of horses by polymorphic blood protein loci].
Genetika    April 1, 1992   Volume 28, Issue 4 152-165 
Dubrovskaia RM, Starodumov IM, Bannikova LV.The estimation of genetic differentiation between 27 horses breeds originated in USSR, based on serum proteins polymorphism (loci Tf, Al, Es) is shown. Genetical variability among aborigine breeds is higher then among cultural ones. The erosion of gene pool of Przewalski's Horse is explained by special history of this population and a few horses in analyzing group. Genetic distances reflect the directions and intensity of breeding. High genetical distances between Przewalski's Horse, Shetland Pony and other horses obtained could be explained by overcoming the "bottle neck" of selections in bre...
Common white facial markings in Arabian horses that are homozygous and heterozygous for alleles at the A and E loci.
The Journal of heredity    January 1, 1992   Volume 83, Issue 1 73-77 doi: 10.1093/oxfordjournals.jhered.a111163
Woolf CM.No abstract available
A new genetic variant Z2 in the Pi system of horses.
Animal genetics    January 1, 1992   Volume 23, Issue 3 279-281 doi: 10.1111/j.1365-2052.1992.tb00143.x
Zurkowski M, Kuryl J.A new genetic variant in the horse Pi system, designated Z2, was reported in Polish Arabs by using two-dimensional agarose polyacrylamide gel electrophoresis. The frequencies of Pi alleles F, G, L, L2, N, S, U, W, Z and Z2 were found to be 0.036, 0.005, 0.171, 0.013, 0.008, 0.237, 0.416, 0.003, 0.107 and 0.004 respectively.
Cloning of highly polymorphic microsatellites in the horse.
Animal genetics    January 1, 1992   Volume 23, Issue 2 133-142 doi: 10.1111/j.1365-2052.1992.tb00032.x
Ellegren H, Johansson M, Sandberg K, Andersson L.We have isolated equine microsatellites by screening a genomic library with (TG)n and (TC)n probes. TG microsatellites were found to be more abundant than TC repeats, with an estimated frequency of one per 100,000bp. Sequence analysis of eight TG-positive clones revealed varying structures of the repeat regions; perfect stretches of TG repeats, imperfect stretches of TG repeats and compound regions of TG and TC repeats. Five loci were analysed by PCR and showed extensive polymorphism; three to seven alleles and heterozygosities of 0.40-0.76 were observed when screening 20-30 unrelated individu...
New A system allele of red cell alloantigens in Paso Fino horses.
Animal genetics    January 1, 1992   Volume 23, Issue 6 557-559 doi: 10.1111/j.1365-2052.1992.tb00179.x
Bowling AT, Nickel LS.Family data from Paso Fino horses support the existence of a new allele (Aabdf) in the A system of red cell alloantigens. Considering breeds throughout the world, the A system now consists of 13 alleles defined by reagents which serologically detect seven factors.
One-dimensional isoelectric focusing and immunoblotting of equine major histocompatibility complex class I antigens.
Animal genetics    January 1, 1992   Volume 23, Issue 2 87-95 
Schuberth HJ, Anders I, Pape U, Leibold W.The cells of 60 randomly selected Hannoveranian warm-blooded horses were subjected to one-dimensional isoelectric focusing and immunoblotting with a cross-reacting monoclonal antibody (Bo 1) recognizing bovine class I antigens. The banding patterns were correlated with the serologically defined specificities of the ELA-A locus. ELA-A2 was correlated with four bands, while ELA-A5, ELA-W18, ELA-A6, ELA-A14 and ELA-A9 were correlated with a single band each. The complexity of the pattern and additional polymorphic bands which could not be correlated to any of the known ELA specificities may indic...
Common white facial markings in bay and chestnut Arabian horses and their hybrids.
The Journal of heredity    March 1, 1991   Volume 82, Issue 2 167-169 doi: 10.1093/oxfordjournals.jhered.a111053
Woolf CM.Common white facial and leg markings have a multifactorial mode of inheritance in Equus caballus. Evidence for the complexity of the genetic component is the observation that chestnut (e/e) horses have more extensive white markings than do bay (E/-) horses. Computerized records obtained from the Arabian Horse Registry of America, Inc., were used to determine if heterozygous (E/e) bay horses have more extensive white facial markings than do homozygous (E/E) bay horses. Thirty-five sire families were analyzed. Each sire family consists of a sire, his foals, and the dams of those foals. The facia...
Inheritance of the equine Tf F3 allele.
Animal genetics    January 1, 1991   Volume 22, Issue 2 187-190 doi: 10.1111/j.1365-2052.1991.tb00662.x
Cothran EG, Henney PJ, King JA.The inheritance of the equine Tf F3 allele was examined in 39 parent-offspring combinations. For 26 of the cases the allele inherited by the offspring from the heterozygous parent could be determined. The proportion of individuals that inherited the F3 variant compared to the alternative allele was exactly 1:1. In five cases the parental phenotype was identical to that of the offspring. For the remaining eight cases the parent was homozygous for the F3 allele and all offspring had the F3 allele. The results were consistent with Mendelian inheritance.
Donkey and horse alpha 1 B-glycoprotein: partial characterization and new alleles.
Comparative biochemistry and physiology. B, Comparative biochemistry    January 1, 1991   Volume 98, Issue 4 523-528 doi: 10.1016/0305-0491(91)90247-b
Patterson SD, Bell K, Shaw DC.1. The donkey postalbumin protein has been shown to be the equivalent of human alpha 1 B-glycoprotein by protein immunoblotting and N-terminal amino acid sequence. 2. The horse A1B system (already identified as the homologue of human alpha 1 B-glycoprotein) and the donkey alpha 1 B-glycoprotein were characterized further for terminal sialic acid content, isoelectric point, amino acid composition and affinity for the dye-ligand, Cibacron Blue F3GA (known to bind human alpha 1 B-glycoprotein). 3. Two new alleles in the horse A1B system were found, bringing the total number of alleles to five. No...
The inheritance of the leopard complex of spotting patterns in horses.
The Journal of heredity    July 1, 1990   Volume 81, Issue 4 323-331 doi: 10.1093/oxfordjournals.jhered.a110997
Sponenberg DP, Carr G, Simak E, Schwink K.The leopard complex of white spotting patterns in horses consists of the leopard, few-spot leopard, blanket, blanket with spots, varnish roan (or marble), snowflake, frosted, speckled, and mottled patterns. Horses with any of these patterns can produce the other patterns when mated to nonpatterned horses. Twenty-two horses of the Welsh Pony, Noriker, Appaloosa, and Pony of the Americas breeds produced 270 foals in a distribution consistent with a single dominant allele being responsible for the patterns. The symbol for this dominant allele, Lp, is retained from previous work on the leopard pat...
Further evidence for a silent allele in the transferrin locus of the horse.
Animal genetics    January 1, 1990   Volume 21, Issue 4 423-426 doi: 10.1111/j.1365-2052.1990.tb01987.x
Schmid DO, Ek N, Braend M.A silent allele in the transferrin locus (Tf) was observed in a Thoroughbred mare and in five of her offspring from three different matings. Evidence for the silent allele was obtained by quantitative immunodiffusion studies.
Population data and a fourth allele for equine complement component 3 (C3).
Animal genetics    January 1, 1990   Volume 21, Issue 1 83-86 doi: 10.1111/j.1365-2052.1990.tb03210.x
Bowling AT, Dileanis S.The C3 polymorphism of equine serum or plasma revealed by agarose gel electrophoresis can be diagnosed with protein stain following acid protein fixation. In addition to the three alleles previously described (C31, C32, C33), a fourth allele (C34) was found. Population data for 25 domestic breeds and Equus przewalskii are presented.
Equus przewalskii plasma protease inhibitor (Pi) system.
Animal genetics    January 1, 1990   Volume 21, Issue 2 129-139 doi: 10.1111/j.1365-2052.1990.tb03217.x
Patterson SD, Bell K, Manton VJ.A detailed biochemical characterization of four of the five previously described alleles of the plasma protease inhibitor (Pi) system of Equus przewalskii was performed using both one- and two-dimensional electrophoretic techniques. The proteins have been characterized in terms of isoelectric point, relative molecular mass, inhibitory activity to bovine trypsin and chymotrypsin, immunochemical cross-reactivity, terminal sialic acid content and enzyme:inhibitor complex formation and the oxidation sensitivity of this interaction. Using these functional criteria, only three loci (Spi 1, 2 and 3) ...
A single gel for determining genetic variants of equine erythrocyte carbonic anhydrase (CA) and catalase (Cat).
Animal genetics    January 1, 1990   Volume 21, Issue 2 191-197 doi: 10.1111/j.1365-2052.1990.tb03224.x
Bowling AT, Gordon L, Penedo MC, Wictum E, Beebout J.We describe a method for agarose IEF under acid conditions in which a single gel can be used to diagnose from equine red cell lysates genetic variants for carbonic anhydrase (CA) and catalase (Cat). Family and population data for 4801 horses of 27 breeds and seven trap sites of Great Basin feral horses are presented to support the presence of a sixth CA allele, CAE, which has been recognized previously, but not described by published data. Allelic frequencies for the two systems suggest it may be appropriate to use this gel for parentage verification programmes or to obtain population data for...
Multifactorial inheritance of white facial markings in the Arabian horse.
The Journal of heredity    May 1, 1989   Volume 80, Issue 3 173-178 doi: 10.1093/oxfordjournals.jhered.a110831
Woolf CM.The hypothesis was tested that white facial markings in the Arabian horse show multifactorial inheritance. The hypothesis assumes that (1) alleles at different loci acting in a cumulative manner influence the variation in white facial markings, (2) the amount of whiteness is correlated with the number of genes, and (3) interacting nongenetic factors influence the variation. The study was based on computerized data obtained from the Arabian Horse Registry of America, Inc. The facial region was divided into five areas, and each horse was given a score according to the number of areas with a whit...
Genetic polymorphism of horse serum protein 3 (SP3).
Animal genetics    January 1, 1989   Volume 20, Issue 1 43-49 doi: 10.1111/j.1365-2052.1989.tb00840.x
Juneja RK, Sandberg K, Kuryl J, Gahne B.Two-dimensional agarose gel (pH 8.6)-horizontal polyacrylamide gel (pH 9.0) electrophoresis of horse serum samples, followed by general protein staining, revealed genetic polymorphism of an unidentified protein tentatively designated serum protein 3 (SP3). The SP3 fractions appeared distinctly when a 14% concentration of acrylamide was used in the separation gels. The 2-D mobilities of SP3 fractions were quite similar to that of albumin. Family data were consistent with the hypothesis that the observed SP3 phenotypes were controlled by four co-dominant, autosomal alleles (D, F, I, S). Evidence...
Association between serum esterase (Es) type and starting proportion in Swedish Trotters: further observations.
Animal genetics    January 1, 1989   Volume 20, Issue 1 93-98 doi: 10.1111/j.1365-2052.1989.tb00846.x
Andersson-Eklund L, Andersson L, Sandberg K.A study was carried out to attempt to explain the basis of the association between the Es locus and starting proportion in Swedish Trotters which had been observed previously. The effect of Es genotype on starting proportion has diminished among horses born in the late 1970s. There are indications that the incidence of leg lesions varies between Es genotypes. If this is true, it is possible that the decreasing effect of the Es locus on starting proportion is due to the environmental changes which have been made at race tracks in the early 1980s to reduce the strain on the legs of the trotters....
Equine lymphocyte antigens and reproduction in the Standardbred mare.
Animal genetics    January 1, 1989   Volume 20, Issue 1 99-104 doi: 10.1111/j.1365-2052.1989.tb00847.x
Park CA, Hines HC, Threlfall WR.Equine lymphocyte antigen (ELA) gene frequencies were estimated for pacing and trotting Standardbred mares residing on a breeding farm in central Ohio. The ELA gene frequencies for Ohio Standardbreds did not differ significantly from the ELA gene frequencies of Kentucky Standardbreds, determined by Bailey (1983). No significant differences were found in the distribution of ELA class I antigens in horses with lower overall fertility or a history of abortion on the investigated breeding farm. Likewise, no significant association was observed when the ELA types of both the mare and the stallion t...
A previously reported polymorphic plasma protein of dogs and horses, identified as apolipoprotein A-IV.
Animal genetics    January 1, 1989   Volume 20, Issue 1 59-63 doi: 10.1111/j.1365-2052.1989.tb00842.x
Juneja RK, Gahne B, Lukka M, Ehnholm C.By using immunoblotting with antiserum specific to human plasma apolipoprotein A-IV (apoA-IV), a previously reported polymorphic plasma protein of dogs viz postalbumin-2 (Pa2) and one of horses viz serum protein 2 (SP2), were identified as apoA-IV of these species. This along with earlier published results implied that: (1) both dog and horse show a high degree of polymorphism at the APOA4 locus with three common alleles in each of the two species; and (2) apoA-IV phenotyping in these two species can be done by analysing plasma/serum samples by a simple method of two-dimensional electrophoresi...
Evidence for eumelanin and pheomelanin producing genotypes in the Arabian horse.
The Journal of heredity    March 1, 1988   Volume 79, Issue 2 100-106 doi: 10.1093/oxfordjournals.jhered.a110461
Woolf CM, Swafford JR.The ultrastructural imaging of melanocytes coupled with analyses to detect sulfur-containing melanosomes by energy-dispersive X-ray spectroscopy were used to test the hypothesis that the yellowish-red and black pigments found in Arabian horses result from pheomelanogenesis and eumelanogenesis, respectively. These procedures detected pheomelanosomes in follicles at the base of hairs in chestnut horses and eumelanosomes in follicles at the base of hairs in black horses. By analyzing tissue obtained by skin biopsy, these procedures also demonstrated that skin melanocytes in a chestnut horse produ...
Excess of heterozygotes at albumin locus in American Standardbred horses.
Animal genetics    January 1, 1988   Volume 19, Issue 4 331-341 doi: 10.1111/j.1365-2052.1988.tb00824.x
Bowling AT, Clark RS.Data from 5934 matings of American Standardbred horses provided evidence for an excess of heterozygotes at the albumin locus, statistically significant (P less than 0.01) in one mating class (A1-AB stallions x Al-A dams), primarily attributed to an excess of heterozygotes among male offspring.
Pigment types of various color genotypes of horses.
Pigment cell research    January 1, 1988   Volume 1, Issue 6 410-413 doi: 10.1111/j.1600-0749.1988.tb00144.x
Sponenberg DP, Ito S, Eng LA, Schwink K.Hair samples of various colors of horses were analyzed for content of both eumelanin and pheomelanin by a procedure using high performance liquid chromatography. The results are in accord with generally accepted genetic hypotheses accounting for the various colors. However, the results support the hypothesis that the chestnut/sorrel group of colors is conditioned by the extension locus, not the brown locus. The results also indicate that the brown locus is a likely contributor to some rare color phenotypes.
Preliminary evidence for a fourth allele at the phosphohexose isomerase (Phi) locus of horse erythrocytes.
Animal genetics    January 1, 1988   Volume 19, Issue 1 47-49 doi: 10.1111/j.1365-2052.1988.tb00788.x
Bowling AT, Wictum E.A fourth allele at the horse erythrocyte phosphohexose isomerase (Phi) locus was proposed to account for phenotypes observed after starch gel electrophoresis and enzymatic staining of red cell lysates from American Saddlebred and Tennessee Walking Horse breeds. The gene was rare, having an estimated frequency of 0.009 in 949 Saddlebreds tested.
Novel alpha haemoglobin haplotypes in horses.
Animal genetics    January 1, 1988   Volume 19, Issue 2 87-101 doi: 10.1111/j.1365-2052.1988.tb00795.x
Bowling AT, Scott AM, Flint J, Clegg JB.Four minor haplotypes that produce abnormal haemoglobin phenotypes in horses have been characterized. Two of them, AIIb and V, are copy number variants with, respectively, one and three alpha genes instead of the normal complement of two. The AIIa and C haplotypes, on the other hand, each have two alpha genes but, as a result of probable gene conversions, they now encode identical, though haplotype specific, globins. Two out of 60 unrelated and phenotypically normal horses studied had an unusual triplicated rearrangement in the embryonic zeta-gene locus. Each of these variants appears to have ...
Subdivision of equine Tf into H1 and H2.
Animal genetics    January 1, 1988   Volume 19, Issue 2 177-183 doi: 10.1111/j.1365-2052.1988.tb00803.x
Bell K, Pollitt CC, Patterson SD.Subdivision of equine TfH into two variants, designated H1 (faster) and H2 (slower), has been accomplished by high voltage, thin layer polyacrylamide gel electrophoresis at pH 7.9. Transferrin H1 and H2 have been shown to be controlled by codominant alleles and gene frequencies of the Tf alleles have been determined in the Australian Thoroughbred, Standardbred. Quarter Horse and Arabian Horse breeds.
Restriction fragment length polymorphisms of horse class II MHC genes observed using various human alpha- and beta-chain cDNA probes.
Animal genetics    January 1, 1988   Volume 19, Issue 4 395-408 doi: 10.1111/j.1365-2052.1988.tb00831.x
Hänni K, Hesford F, Lazary S, Gerber H.Genomic DNA isolated from 20 horses was digested with up to six restriction endonucleases and subjected to southern blot hybridization analysis using various human class II alpha- and beta-chain cDNA probes. A high degree of restriction fragment length polymorphism (RFLP) was found for the DQ alpha, DP beta, DQ beta and DR beta probes, about 20 polymorphic bands being detected for each. DR alpha showed 2-4 polymorphic bands, whereas no evidence for DP alpha-like genes was found. A number of correlations of RFLPs with individual alloantisera were apparent.
Joint Report of the Fifth International Workshop on Lymphocyte Alloantigens of the Horse, Baton Rouge, Louisiana, 31 October-1 November 1987.
Animal genetics    January 1, 1988   Volume 19, Issue 4 447-456 doi: 10.1111/j.1365-2052.1988.tb00836.x
Lazary S, Antczak DF, Bailey E, Bell TK, Bernoco D, Byrns G, McClure JJ.Six laboratories participated in the Fifth International Workshop on Lymphocyte Alloantigens of the Horse, testing 132 alloantisera against lymphocytes of 880 horses chosen to represent different families and breeds. Most of the alloantisera were produced by lymphocyte immunization between horses matched at the ELA-A locus. All horses were also tested with antisera contributed to the workshop by participating laboratories which identified ELA specificities A1-A10 and W12-W21. Previously identified workshop specificities ELA-W14, W15 and W19 were accepted as products of the ELA-A locus based on...
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