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Topic:Phenotype

Phenotype in horses refers to the observable physical and behavioral traits of an individual horse, which result from the interaction of its genetic makeup and environmental influences. These traits include characteristics such as coat color, height, conformation, and temperament. Phenotypic expression is a focal point in equine breeding and management, as it influences performance, health, and suitability for specific disciplines. Research in this area examines the genetic basis of phenotypic traits, the impact of environmental factors, and the interaction between genetics and environment. This page aggregates peer-reviewed research studies and scholarly articles that explore the genetic determinants, environmental effects, and practical implications of phenotypic traits in horses.
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...
[Effect of selection on heterozygosity of farm animals].
TSitologiia i genetika    January 1, 1989   Volume 23, Issue 1 36-39 
Rozhkov IuI, Okhapkin SK, Vorob'ev EG, Bezenko SP, Galimov IR.A stabilizing selection which is made in cattle according to phenotypic characters affects simultaneously a genetic character--the level of individual heterozygosity++. As a result animals with mean (modal) level of heterozygosity++ have the least probability of elimination. Similarly, the driving selection in pigs and horses leads to a change in both phenotypic characters and genetic character, the level of individual heterozygosity++. In this case the most heterozygous animals have the least probability of elimination.
Concentration of serum testosterone in XY sex reversed horses.
Journal of endocrinological investigation    September 1, 1988   Volume 11, Issue 8 609-613 doi: 10.1007/BF03350191
Kent MG, Schneller HE, Hegsted RL, Johnston SD, Wachtel SS.The XY Sex Reversal Syndrome of the horse is a condition associated with female or intersexual development in genetic males. In our previous study, 38 sex reversed XY mares were classified according to behavior, gross clinical phenotype, gonadal status, and H-Y phenotype. Four classes were described, ranging from potentially fertile female (Class I) to virilized intersex (Class IV). In the present study, serum testosterone concentrations were measured in 29 sex-reversed XY mares, 3 normal mares and 3 normal stallions. Serums were obtained during the breeding season (March-August), and were sto...
XY sex reversal syndrome in the mare: clinical and behavioral studies, H-Y phenotype.
Human genetics    August 1, 1988   Volume 79, Issue 4 321-328 doi: 10.1007/BF00282169
Kent MG, Shoffner RN, Hunter A, Elliston KO, Schroder W, Tolley E, Wachtel SS.An inherited genetic disorder causes XY embryos of the horse to develop as mares. On the basis of our study of 38 such mares, we have identified four grades or classes of XY sex reversal according to this scheme: class I, nearly normal female, of which some are fertile; class II, female with gonadal dysgenesis, normal mullerian development; class III, intersex mare with gonadal dysgenesis, abnormal mullerian development, enlarged clitoris; class IV, virilized intersex characterized by high levels of testosterone. In general, class I and class II mares were typed H-Y antigen-negative whereas cl...
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...
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 ...
Standardbred stallion gene transmission for twelve protein systems: evidence for selection in trotters.
Animal genetics    January 1, 1988   Volume 19, Issue 4 317-330 doi: 10.1111/j.1365-2052.1988.tb00823.x
Weitkamp LR, MacCluer JW, Guttormsen SA, King RH.The transmission ratios of alleles at 12 protein marker loci were computed individually for American Standardbred stallions in a genealogy of 5392 phenotyped horses. Over all loci there was significant gene transmission distortion for trotting stallions (p = 0.0019) but not for pacing stallions (p = 0.99). The transmission distortion was due to sire-specific effects (p = 0.0024) and not to increased transmission of one or the other allele of a given heterozygous genotype (p = 0.21). Individual-specific, non-random transmission of homologous chromosomes may provide a mechanism for selection to ...
Genetic differentiation associated with gait within American standardbred horses.
Animal genetics    January 1, 1987   Volume 18, Issue 4 285-296 doi: 10.1111/j.1365-2052.1987.tb00772.x
Cothran EG, MacCluer JW, Weitkamp LR, Bailey E.American Standardbred horses are divided into two groups based upon gait: the trot and the pace. The tendency to trot (diagonally opposite legs moving forward together) or pace (the two legs on the same side of the body moving forward together) appears to be genetically determined, although no formal genetic analysis has been undertaken. There is nearly complete assortative mating for gait; however, about 20% of the offspring sired by trotters are registered as pacers, while fewer than 1% of those sired by pacers are registered as trotters. Electrophoretically detectable genic variation at 13 ...
Joint report of the Third International Workshop on Lymphocyte Alloantigens of the Horse, Kennett Square, Pennsylvania, 25-27 April 1984.
Animal genetics    January 1, 1986   Volume 17, Issue 4 363-373 doi: 10.1111/j.1365-2052.1986.tb00730.x
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...
Electrophoretic polymorphism and molecular structure of equine C3.
Animal genetics    January 1, 1986   Volume 17, Issue 3 209-215 doi: 10.1111/j.1365-2052.1986.tb03192.x
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...
XY sex-reversal syndrome in the domestic horse.
Cytogenetics and cell genetics    January 1, 1986   Volume 42, Issue 1-2 8-18 doi: 10.1159/000132243
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-...
Polymorphic restriction sites in the horse beta-globin gene cluster.
Animal genetics    January 1, 1986   Volume 17, Issue 3 245-253 doi: 10.1111/j.1365-2052.1986.tb03196.x
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...
Sex chromosome mosaicism and infertility in mares.
The Veterinary record    May 18, 1985   Volume 116, Issue 20 542-543 doi: 10.1136/vr.116.20.542
Halnan CR.From the standpoint that cytogenetic screening in mares is seldom necessary as an aid to diagnosis of the gonadal dysgenesis syndrome, a series of double-blind trials were conducted to test the proposal that present practice failed to explore the potential for cytogenetics in clinical practice. It was demonstrated that diagnoses of infertility might be made where mares were found to be of normal phenotype by clinical examination. Such mares were found to be gonosmic mosaics. One stallion had a polymorphism of the X chromosome and had poor conception rates. It was demonstrated that the true val...
Morphology of three strains of contagious equine metritis organism.
Infection and immunity    April 1, 1985   Volume 48, Issue 1 94-108 doi: 10.1128/iai.48.1.94-108.1985
Hitchcock PJ, Brown TM, Corwin D, Hayes SF, Olszewski A, Todd WJ.Examination of recently isolated cultures of three strains of Contagious Equine Metritis Organism grown on specially formulated, serum-free, clear typing medium revealed the presence of numerous colonial opacity variants. These colonies were prepared by a number of fixation and staining techniques and examined by scanning and transmission electron microscopy. Opaque and transparent phenotypes produced copious amounts of extracellular material compared with intermediate-opacity phenotypes which produced little or none. Also unique to intermediate colonies were numerous thin intercellular strand...
Obtaining of pure transferrins D, M and R from equine serum and determination of transferrin level in relation to phenotype.
Acta physiologica Polonica    September 1, 1984   Volume 35, Issue 5-6 529-538 
Didkowski S, Kaminski M, Kerjan P, Tomaszewska-Guszkiewicz K, Zurkowski M.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...
Two-dimensional electrophoresis of horse serum proteins: genetic polymorphism of ceruloplasmin and two other serum proteins.
Animal blood groups and biochemical genetics    January 1, 1984   Volume 15, Issue 4 237-250 doi: 10.1111/j.1365-2052.1984.tb01124.x
Juneja RK, Andersson L, Sandberg K, Gahne B, Adalsteinsson S, Gunnarsson E.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...
Horse haemoglobin phenotyping by agarose gel isoelectric focusing comparison of Thoroughbreds with other Equidae.
Animal blood groups and biochemical genetics    January 1, 1984   Volume 15, Issue 1 37-40 doi: 10.1111/j.1365-2052.1984.tb01095.x
Osterhoff DR, Groenewald J.By using isoelectric focusing in thin agarose slab gels 1049 Thoroughbred, 82 Nooitgedachter, 45 Percheron and 244 horses of other breeds were examined. The numbers of other Equidae tested were 107 donkeys, 50 mules, 4 common zebras (Equus burchelli boehmi) and 8 mountain zebras (Equus zebra hartmannae). Phenotypic data are presented for all tested animals and gene frequencies are calculated for the horses.
Lymphocyte alloantigens of the horse. I. Serologic and genetic studies.
Tissue antigens    September 1, 1982   Volume 20, Issue 3 172-187 doi: 10.1111/j.1399-0039.1982.tb00343.x
Antczak DF, Bright SM, Remick LH, Bauman BE.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 contribution to the D system in horses.
Animal blood groups and biochemical genetics    January 1, 1981   Volume 12, Issue 3 187-192 doi: 10.1111/j.1365-2052.1981.tb01549.x
Bouquet Y, Van Zeveren A, Van de Weghe A, Mériaux JC.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.
Antigen-antibody crossed electrophoretic studies and quantitative comparisons of serum transferrin types in horses.
Acta veterinaria Scandinavica    January 1, 1981   Volume 22, Issue 2 246-259 doi: 10.1186/BF03547514
Ek N.Selected transferrin phenotypes from 14 horses were investigated by antigen-antibody crossed electrophoresis. Horse sera were subjected to starch gel electrophoresis followed by right angle electrophoresis in agarose gels containing rabbit produced anti-horse transferrin. This technique gave an additional zone in the front as compared with 2 transferrin zones seen after ordinary starch gel electrophoresis. Comparisons of transferrin concentrations in horse sera were performed by an immunodiffusion technique. Values were related to a chosen reference serum. A total of 372 horses (210 Norwegian ...
Variation of acidic prealbumins in the donkey (Equus asinus).
Animal blood groups and biochemical genetics    January 1, 1980   Volume 11, Issue 2 77-80 doi: 10.1111/j.1365-2052.1980.tb01496.x
Braend M, Romagnoli A.Starch gel electrophoresis of 55 donkey serum samples revealed three prealbumin (Pr) phenotypes temporarily designated Pr M, Pr MT and Pr T. The distribution was in agreement with a genetic theory of two codominant alleles of frequencies, PrM = 0.87 and PrT - 0.13. Variation was also observed for proteins migrating with the same rate as the Xh zones in the horse.
Quantitative comparisons of acidic prealbumin (PR) phenotypes in horses.
Acta veterinaria Scandinavica    January 1, 1980   Volume 21, Issue 3 380-388 doi: 10.1186/BF03546870
Ek N, Braend M.Comparisons of Pr protein amounts in horse sera have been performed using .’s (1965) immunodiffusion technique. Relative values against a chosen standard of 100 % were determined for a total of 435 horses. There was considerable variation between horses, the highest Pr value being 125 and the lowest 50 % of the standard. In animals of the same Pr phenotype the mean Pr values were significantly higher (P < 0.001) in foals than in mares. In Norwegian Trotter horses the Pr value of Pr NN animals was significantly higher than that of Pr SS phenotypes, whereas the mean Pr values of Pr SS was ...
Irregular transmissions in the acidic prealbumin (Pr) system of the horse.
Animal blood groups and biochemical genetics    January 1, 1980   Volume 11, Issue 2 109-112 doi: 10.1111/j.1365-2052.1980.tb01500.x
Braend M.During the routine parentage control of Norwegian Trotter horses with 10 000 parent offspring combinations two irregular transmissions of Pr alleles were found. The allele products were provisionally named D1 and D2. They appeared in two stallions which were typed as D1I and D2N respectively. The first stallion transmitted PrD1 to seven out of 10 offspring and the second stallion PrD2 to two of four offspring. Photographs of seven new Pr phenotypes are presented.
Hemoglobin polymorphism in Equus przewalskii and E. caballus analyzed by isoelectric focusing.
Comparative biochemistry and physiology. B, Comparative biochemistry    January 1, 1979   Volume 62, Issue 4 305-308 doi: 10.1016/0305-0491(79)90093-2
Ryder OA, Sparkes RS, Sparkes MC, Clegg JB.1. Through the use of isoelectric focusing and peptide analysis, the hemoglobins of Przewalski's horse. Equus przewalskii and the domestic horse, E. caballus have been compared. 2. Przewalski's horses have two separate alpha-globin chain polymorphisms similar to domestic horses. Each hemoglobin phenotype could be accurately determined by isoelectric focusing. 3. Confirmation of the electrofocusing hemoglobin determinations was made by comparison to amino acid composition analyses of purified tryptic peptides and by analysis of the rare hemoglobins phenotypes observed in a family of Norwegian t...
The characterization of equine prealbumin (Pr) proteins by antigen-antibody crossed electrophoresis.
Acta veterinaria Scandinavica    January 1, 1979   Volume 20, Issue 2 180-190 doi: 10.1186/BF03546610
Ek N. Acta vet. scand. 1979, , 180–190. — Selected equine Pr phenotypes from a total of 55 horses of mixed breeds were investigated. The horse sera were subjected to acid starch gel electrophoresis at pH 4.8, followed by right angle electrophoresis in agarose gels containing rabbit-produced anti-Pr protein. This technique gives peaks in the agarose gels corresponding to the Pr zones in acid gels. The investigation revealed patterns of the Pr protein which were more complex than those seen when using ordinary acid starch gel electrophoresis. The phenotypes FF, II and LL showed a total of eight p...
Linkage of tobiano coat spotting and albumin markers in a pony family.
The Journal of heredity    July 1, 1978   Volume 69, Issue 4 214-216 doi: 10.1093/oxfordjournals.jhered.a108933
Trommershausen-Smith A.Genetic segregation patterns among blood type markers and various phenotypically observed traits were studied in a small herd of ponies. The herd consisted of 10 mares without white spotting and a single stallion with the dominant pattern of tobiano spotting. Comparison of segregation patterns at loci for which the stallion was heterozygous showed tight linkage for the Alb-B and tobiano markers. In 17 cases in which the Alb contribution of the sire could be determined, all 10 foals that inherited AlbB from him were tobiano spotted, and all 7 non-spotted foals inherited his AlbA. The use of the...
Inheritance of yellow dun and blue dun in the Icelandic toelter horse.
The Journal of heredity    May 1, 1978   Volume 69, Issue 3 146-148 doi: 10.1093/oxfordjournals.jhered.a108913
Adalsteinsson S.The coat colors of 161 progeny from matings between 10 yellow dun and 6 blue dun stallions and mares of 8 different colors are described. The results confirm the previous hypothesis that a dominant dilution gene, D, converts bay to yellow dun with dark mane and tail, chestnut to yellow dun and dun mane and tail, and black to blue dun (mouse, grullo). The palomino gene, c cr, on the other hand, is hypostatic to black and blue dun. In heterozygous form, c cr converts bay to buckskin, and chestnut and sorrel to palomino, and results in blue-eyed white when homozygous. No particular effect of D is...
[Immunochemical investigations on the gene expression of horse serum carboxylesterase (author’s transl)].
Annales d'immunologie    February 1, 1978   Volume 129, Issue 2-3 353-365 
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...