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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.
Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis.
Human molecular genetics    September 1, 1994   Volume 3, Issue 9 1599-1603 doi: 10.1093/hmg/3.9.1599
Zhou J, Spier SJ, Beech J, Hoffman EP.It is often suggested that polygenic or environmental factors are responsible for clinical variability between patients with identical mutations. However, most dominant diseases are caused by a change-of-function alteration in the mutant allele's protein product. All patients are heterozygous and presumably express both mutant and normal proteins from the corresponding genes. Thus, a possible molecular mechanism for clinical variability could be the difference in relative levels of mutant vs. normal mRNA in different patients with the same mutation. To investigate this hypothesis, it is necess...
Polymorphic expression of an equine T lymphocyte and neutrophil subset marker.
Veterinary immunology and immunopathology    July 1, 1994   Volume 42, Issue 1 83-89 doi: 10.1016/0165-2427(94)90091-4
Lunn DP, Holmes MA, Duffus WP.This report describes the further characterization of a group of antibodies which have been assigned to Workshop Cluster 1 by the First International Workshop on Equine Leucocyte Antigens. These antibodies recognize a 22 kDa antigen, which is present on a large subset of T lymphocytes and neutrophils, and on medullary thymocytes. The antigen is polymorphic in its expression, and three equine phenotypes could be identified using the described antibodies. The function and homology of the antigen recognized by these antibodies are unknown.
Phenotype and biological activity of neonatal equine chondrocytes cultured in a three-dimensional fibrin matrix.
American journal of veterinary research    March 1, 1994   Volume 55, Issue 3 410-414 
Hendrickson DA, Nixon AJ, Erb HN, Lust G.Equine neonatal chondrocytes were cultured in three-dimensional fibrin matrices under conditions of immediate implantation or implantation following monolayer culture for 6 days, and 3 cell concentrations (1 x 10(5), 1 x 10(6), and 5 x 10(6) chondrocytes/cm3). Equine fibrinogen was collected by cryoprecipitation and polymerized by use of activated bovine thrombin. The fibrin implants were harvested and analyzed histologically and biochemically at 3, 7, and 14 days after the chondrocytes were implanted in fibrin. The differentiation ratio (ratio of rounded, chondrocyte-like cells to stellate, f...
Diversity within natural populations of eastern equine encephalomyelitis virus.
Virology    August 1, 1993   Volume 195, Issue 2 700-709 doi: 10.1006/viro.1993.1421
Weaver SC, Bellew LA, Gousset L, Repik PM, Scott TW, Holland JJ.We evaluated genetic and phenotypic diversity within natural populations of the alphavirus, Eastern equine encephalomyelitis (EEE) virus. RNA fingerprinting revealed that most populations within infected hosts (unpassaged isolates) contained a consensus genotype along with minority genotypes differing in one to three T1-resistant oligonucleotides. Mutation frequencies appeared to be similar to those reported for other RNA viruses, suggesting that the slow rate of EEE virus evolution is not limited by fidelity of genome replication. Within a given year, genetic diversity was generally greater a...
Phenotypic analysis of peripheral blood and bronchoalveolar lavage fluid lymphocytes in control and chronic obstructive pulmonary disease affected horses, before and after ‘natural (hay and straw) challenges’.
Veterinary immunology and immunopathology    April 1, 1993   Volume 36, Issue 3 207-222 doi: 10.1016/0165-2427(93)90020-5
McGorum BC, Dixon PM, Halliwell RE.Phenotypic analysis of lymphocytes in peripheral blood (PB) and bronchoalveolar lavage fluid (BALF) of control and chronic obstructive pulmonary disease (COPD) affected horses, both before and after 'natural (hay and straw) challenge', were performed using immunofluorescent labelling with monoclonal antibodies and flow cytometry. BALF lymphocytes were shown to be predominantly EqCD5+ cells, approximately half of which were also EqCD8+, with a smaller proportion of B cells. In comparison with PB, BALF contained higher proportions of EqCD5+ cells and EqCD8+ cells and a lower proportion of B cell...
[The spectral characteristics of the fur as genotypic indices of the diversity of animals].
TSitologiia i genetika    January 1, 1993   Volume 27, Issue 1 74-77 
Posudin IuI, Trofimenko AL, Koval' IaM, Palekha NP.No abstract available
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...
Two autosomal trisomies in the horse: 64,XX,-26,+t(26q26q) and 65,XX,+30.
Genome    October 1, 1990   Volume 33, Issue 5 679-682 doi: 10.1139/g90-101
Bowling AT, Millon LV.The phenotypic effects in a yearling Arab filly of a newly described equine autosomal trisomy syndrome for chromosome 30 (65,XX,+30) consisted of small size and severe angular deviation of front legs accompanied by mild polydactyly, but no mental dullness. This case was associated with advanced maternal age. Additional banding studies of a second trisomy case confirmed the assignment to chromosome 26 (64,XX,-26,+t(26q26q)) and evidence of her fertility was presented.
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...
Multifactorial inheritance of common white markings in the Arabian horse.
The Journal of heredity    July 1, 1990   Volume 81, Issue 4 250-256 doi: 10.1093/oxfordjournals.jhered.a110987
Woolf CM.The results of a previous study were compatible with the hypothesis that common white facial markings in the Arabian horse have a multifactorial mode of inheritance. I expanded that study to (1) include the legs and therefore obtain insight into the heritability of common white markings in all peripheral regions (face and legs) of the Arabian horse and (2) investigate the influence of sex and the genotypes that produce the bay and chestnut phenotypes on the variation in common white markings. Both studies were based on computerized data obtained from the Arabian Horse Registry of America, Inc....
[Minimum health and sexual requirements for breeding stallions].
DTW. Deutsche tierarztliche Wochenschrift    October 1, 1989   Volume 96, Issue 9 459-464 
Merkt H, Klug E.The rules for the minimal requirements in health and genital potency for stallions formulated by GOTZE (1950) are reformulated, taking into consideration the results achieved by KLUG (1982) and KENNEY (1983). A stallion must be free of phenotypic hereditary faults. Furthermore he has to be in general and genital health and must be fit in both, potentia coeundi and generandi. The figures are based on the examination of thoroughbred and so called "warmblood" stallions. However, they can be adapted to other breeds like draughthorses and ponys.
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...
[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...
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.