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.
Haider W, Brehm W, Keller H.An apparently unilateral cryptorchid stallion was referred to the clinic with a history of colic. In the course of laparotomy an ileus caused by strangulation of the small intestine was found and the horse was euthanized because of poor prognosis. During autopsy strictures and ectasia of the jejunum were found as well as hermaphroditism along with male phenotype. The frequency of cryptorchidism in the case of intersexuality is discussed.
De La Peña-Moctezuma A, Prescott JF, Goodfellow M.Four isolates of Rhodococcus equi, from pneumonic foals, and containing the 85 kb virulence plasmid, a porcine isolate containing an 80 kb plasmid, and their plasmid cured derivatives, were examined for 239 phenotypic properties in an attempt to find characters other than the virulence-associated protein (VapA) which might be encoded by the virulence plasmid in organisms grown at 37 degrees C. Tests chosen included those which have previously given variable results for R. equi isolates, since such variability might be attributed to plasmid curing, and characteristics which have been described ...
Fraser DG, Bailey E.Single-strand conformational polymorphism (SSCP) gel electrophoresis and DNA sequencing were used to characterize the second exon of the horse DRB homologue as well as to identify eight new DRB alleles. The SSCP gels presented a complex pattern, with phenotypes exhibiting between 4 and 13 bands. The DRB SSCP patterns were studied for two families (6 to 13 bands per pattern). For both families, the patterns showed simple Mendelian inheritance. The polymerase chain reaction products from two individuals possessing homozygous major histocompatibility complex (MHC) alleles by descent were cloned a...
The Journal of heredityMarch 1, 1995
Volume 86, Issue 2 129-135 doi: 10.1093/oxfordjournals.jhered.a111542
Woolf CM.One method of assessing the influence of stochastic events on phenotypic variation is to study morphological differences in paired limbs of the same individual. These limbs have identical genotypes and similar intra-uterine environments and are analogous to monozygotic twins. Common white leg markings have a multifactorial mode of inheritance in the Arabian horse. Asymmetry occurs frequently for these markings. Using computerized registration records obtained from the Arabian Horse Registry of America, Inc., the types of markings were quantified in the left foreleg and left hind leg of bay and...
Kakoi H, Gawahara H, Miura N.An unusual D system phenogroup appeared in one family line of Anglo-Arab horse. This phenogroup probably originated from inheritance with an apparent absence of factors and was transmitted through successive generations.
Walker RL, de Peralta TL, Villanueva MR, Snipes KP, Madigan JE, Hird DW, Kasten RW.Isolates of Salmonella choleraesuis serotype ohio (S. ohio) recovered during an outbreak of equine neonatal salmonellosis on a Thoroughbred farm were compared with isolates of the same serotype from various animal, feed and environmental sources. Biochemical profiles, antimicrobial susceptibility patterns, phage susceptibility, plasmid profiles, restriction endonuclease analysis and ribotyping were used to compare relatedness of the strains. A total of 46 outbreak and non-outbreak associated isolates of S. ohio were studied. Differences in antimicrobial susceptibility patterns, phage susceptib...
Hardy J, Bednarski RM, Biller DS.Pharmacologically induced splenic contraction might be useful during certain medical or surgical procedures in horses. The effects of phenylephrine, an alpha 1-adrenergic receptor agonist, on hemodynamic function and splenic dimensions were examined in 6 healthy adult horses. Phenylephrine infusion (1, 3, or 6 micrograms/kg of body weight/min for 15 minutes) resulted in a dose-related increase in mean pulmonary artery pressure; right atrial pressure; systolic, mean, and diastolic arterial pressures; and packed cell volume (P = 0.0001). Concurrent decreases in heart rate and specific cardiac ou...
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...
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.
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...
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...
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 Journal of heredityMarch 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...
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 Journal of heredityJuly 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...
The Journal of heredityJuly 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....
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.
The Journal of heredityMay 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...
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...
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.
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...
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...
The Journal of heredityMarch 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...
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.
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.
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 ...
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 ...
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 ...
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...
Sevane N, Sanz CR, Dunner S.Four loci seem responsible for the dilution of the basic coat colours in horse: Dun (D), Silver Dapple (Z), Champagne (CH) and Cream (C). Apart from the current phenotypes ascribed to these loci, pearl has been described as yet another diluted coat colour in this species. To date, this coat colour seems to segregate only in the Iberian breeds Purebred Spanish horse and Lusitano and has also been described in breeds of Iberian origin, such as Quarter Horses and Paint Horse, where it is referred to as the 'Barlink Factor'. This phenotype segregates in an autosomal recessive manner and resembles ...
Zhao RY, Zhao YP, Li B, Bou G, Zhang XZ, Mongke T, Bao T, Gereliin S, Gereltuuin T, Li C, Bai DY, Dugarjaviin ML.Mammalian coat color is one of the first phenotypic changes resulting from positive selection by humans, and it serves important roles in genetic and evolutionary processes. Among them, horses show a broad variety of coat color patterns, based on which it is difficult to distinguish the real phenotypes, resulting in confused records in horse breed registration. Thus, research in the genetic mechanisms on the development of coat color patterns is significant in horse reproduction and breeding. With the recent establishment of genomics and sequencing technologies, there are significant advances ...
Krüger B, Siesenop U, Böhm KH.In 1993 and 1994 a highly increased occurrence of equine dermatophilosis was observed, and a study was initiated to determine phenotypic heterogeneity among 120 clinical isolates using biochemistry, antibiotic resistance profiles, membrane protein profiles and Western blotting. The biochemical examinations contained 1% equine serum in medium. Moreover, the API ZYM-test from bioMérieux was used. The biochemical reactions were suited to identify Dermatophilus congolensis but did not allow a differentiation among the various isolates. Antibiotic resistance in one or more isolates was observed ag...
Horsington JJ, Gilkerson JR, Hartley CA.Equine rhinitis B virus (ERBV) is the single species in the genus Erbovirus, family Picornaviridae. Equine rhinitis B viruses exist in three serotypes and are associated with respiratory disease in horses. Members of the species vary in stability at acid pH. To date there has been discordance in genotype, serotype and acid stability phenotype groupings. To identify capsid regions associated with acid stability, two viruses were serially treated at pH 3.3 to isolate acid-stable mutants. An acid-stable mutant of the prototype acid-labile serotype 1 virus contained a single amino acid change in t...
Posta J, Komlósi I, Mihók S.The aims of this study were to estimate phenotypic and genetic parameters for a range of traits in Hungarian Sport Horses, and to compare several methods of estimating breeding value (BV) in this breed. The analyses were based on the Hungarian Sport Horse Studbook, results of self-performance tests (SPTs) and show-jumping competition results. An SPT comprises subjective judgement of conformation traits, movement analysis traits and free-jumping performance, assessed via ordinal scores. Genetic parameters of SPTs were estimated with an animal model. Different measurements of the competition per...
Zhao R, Yihan W, Zhao Y, Li B, Han H, Mongke T, Bao T, Wang W, Dugarjaviin M, Bai D.Different morphological structures of hairs having properties like defense and camouflage help animals survive in the wild environment. Horse is one of the rare kinds of animals with complex hair phenotypes in one individual; however, knowledge of horse hair follicle is limited in literature and their molecular basis remains unclear. Therefore, the investigation of horse hair follicle morphogenesis and pigmentogenesis attracts considerable interest. Results: Histological studies revealed the morphology and pigment synthesis of hair follicles are different in between four different parts (mane,...
Olsen HF, Klemetsdal G, Odegård J, Arnason T.There have been several approaches to the estimation of breeding values of performance in trotters, and the objective of this study was to validate different alternatives for genetic evaluation of racing performance in the North Swedish and Norwegian cold-blooded trotters. The current bivariate approach with the traits racing status (RACE) and earnings (EARN) was compared with a threshold-linear animal model and the univariate alternative with the performance trait only. The models were compared based on cross-validation of standardized earnings, using mean-squared errors of prediction (MSEP) ...
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...
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...
Müller V, Moraes BDSS, Carvalho IR, Wendt CG, Patten RD, Nogueira CEW.The aim of this study was to estimate the genetic parameters for the morphometric measurements of withers height (WH), thoracic circumference (TC) and cannon bone circumference (CBC) of Criollo horses, stratified for maternal and paternal effects. Statistical genetic design of factor crossings was used to evaluate the offspring of full siblings and half-siblings. Fifty stallions were selected (n = 50) who had been crossed with six mares each (n = 6), to provide 300 parental pairings in which two offspring were born per mare (n = 600). WH in females and TC in males were highly influenced ...
Lopes MS, Mendonça D, Rojer H, Cabral V, Bettencourt SX, da Câmara Machado A.The Terceira Pony is a horse indigenous to Terceira Island in the Azores. These horses were very important during the colonization of the island. Due to their very balanced proportions and correct gaits, and with an average withers height of 1.28 m, the Terceira Pony is often confused with a miniature pure-bred Lusitano. This population was officially recognized as the fourth Portuguese equine breed by the national authorities in January, 2014. The aim of this study was to analyze the morphology and the genetic diversity by means of microsatellite markers of this emerging horse breed. The biom...
Karagianni AE, Kapetanovic R, McGorum BC, Hume DA, Pirie SR.Alveolar macrophages (AMs) constitute the first line of defence in the lung of all species, playing a crucial role in the regulation of immune responses to inhaled pathogens. A detailed understanding of the function and phenotype of AMs is a necessary pre-requisite to both elucidating their role in preventing opportunistic bacterial colonisation of the lower respiratory tract and developing appropriate preventative strategies. The purpose of the study was to characterise this important innate immune cell at the tissue level by making functional and phenotypic comparisons with peritoneal macrop...
Brunberg E, Andersson L, Cothran G, Sandberg K, Mikko S, Lindgren G.The Silver coat color, also called Silver dapple, in the horse is characterized by dilution of the black pigment in the hair. This phenotype shows an autosomal dominant inheritance. The effect of the mutation is most visible in the long hairs of the mane and tail, which are diluted to a mixture of white and gray hairs. Herein we describe the identification of the responsible gene and a missense mutation associated with the Silver phenotype. Results: Segregation data on the Silver locus (Z) were obtained within one half-sib family that consisted of a heterozygous Silver colored stallion with 34...
Ramos S, Pinto A, Crespo J, Marques JP, Bettencourt E, Gama LT, Monteiro S.Osteochondrosis (osteochondritis dissecans), OC(D), is an important joint disorder that has been studied through the years in different breeds but, to our knowledge, there are no reports of its prevalence in Lusitano horses. The aim of this study was to assess the prevalence of OC(D) in Lusitanos, define the characteristics of the disorder in this breed and compare with Spanish Purebred horses. This is a retrospective study that analysed the radiographs from the metacarpometatarsophalangeal, tarsocrural and femoropatellar joints that were taken in 302 Lusitano horses (1-12 years; obtained from...
Gmel AI, Brem G, Neuditschko M.Conformation traits are important selection criteria in equine breeding, as they describe the exterior aspects of the horse (height, joint angles, shape). However, the genetic architecture of conformation is not well understood, as data of these traits mainly consist of subjective evaluation scores. Here, we performed genome-wide association studies on two-dimensional shape data of Lipizzan horses. Based on this data, we identified significant quantitative trait loci (QTL) associated with cresty neck on equine chromosome (ECA)16 within the MAGI1 gene, and with type, hereby differentiating heav...
Signer-Hasler H, Flury C, Haase B, Burger D, Simianer H, Leeb T, Rieder S.The molecular analysis of genes influencing human height has been notoriously difficult. Genome-wide association studies (GWAS) for height in humans based on tens of thousands to hundreds of thousands of samples so far revealed ∼200 loci for human height explaining only 20% of the heritability. In domestic animals isolated populations with a greatly reduced genetic heterogeneity facilitate a more efficient analysis of complex traits. We performed a genome-wide association study on 1,077 Franches-Montagnes (FM) horses using ∼40,000 SNPs. Our study revealed two QTL for height at withers on c...
Watanabe R, Huruta H, Ueno Y, Nukada T, Niwa H, Shinyashiki N, Kano R.Trichophyton equinum is a zoophilic dermatophyte that is frequently isolated from horse dermatophytosis and rare infections in humans. In the present study, molecular and physiological testing were performed on T. equinum isolates from dermatophytoses of Japanese racehorses to assess genotype and phenotype patterns of these strains. Comparative nucleotide sequence analysis showed that internal transcribed spacer (ITS) region sequences amplified from all Japanese isolates were 99.5% identical to T. equinum reference strains. ITS sequences amplified among the isolates were 100% (BT2) showed that...
Petersen JL, Mickelson JR, Rendahl AK, Valberg SJ, Andersson LS, Axelsson J, Bailey E, Bannasch D, Binns MM, Borges AS, Brama P, da Câmara Machado A....Intense selective pressures applied over short evolutionary time have resulted in homogeneity within, but substantial variation among, horse breeds. Utilizing this population structure, 744 individuals from 33 breeds, and a 54,000 SNP genotyping array, breed-specific targets of selection were identified using an F(ST)-based statistic calculated in 500-kb windows across the genome. A 5.5-Mb region of ECA18, in which the myostatin (MSTN) gene was centered, contained the highest signature of selection in both the Paint and Quarter Horse. Gene sequencing and histological analysis of gluteal muscle...
Andrade DGA, Basso RM, Castiglioni MCR, Silva JP, Machado VMV, Laufer-Amorim R, Borges AS, Oliveira-Filho JP.Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the equine () gene. Homozygotes for one of these mutations and heterozygotes for any combination of these mutations exhibit the disproportionate dwarfism phenotype. However, no case description of homozygotes for D4 (D4/D4) has been reported in the literature, to our knowledge. We report 2 Miniature horses with the genotype D4/D4 in the gene. Clinically, the 2 dwarfs had a domed head that was large compared to the rest of the body, mandibular prognathism, and short and bowed limbs, mainly in t...
Gao KX, Chen NB, Liu WJ, Li R, Lan XY, Chen H, Lei CZ, Dang RH.Gray horses are born colored, and they then gradually lose their hair pigmentation. Tremendous progress has been made in identifying the genes responsible for graying with age in horses in recent years. Results show that gray coat color in horses is caused by a 4.6-kb duplication in intron 6 of the syntaxin 17 gene (STX17), which constitutes a cis-acting-regulatory mutation. However, little is known about the gray phenotype in native Chinese horses. This study was conducted to explore the frequency distribution of the gray mutation in native Chinese horse breeds. A total of 489 samples from 14...
Farries G, Bryan K, McGivney CL, McGettigan PA, Gough KF, Browne JA, MacHugh DE, Katz LM, Hill EW.While over ten thousand genetic loci have been associated with phenotypic traits and inherited diseases in genome-wide association studies, in most cases only a relatively small proportion of the trait heritability is explained and biological mechanisms underpinning these traits have not been clearly identified. Expression quantitative trait loci (eQTL) are subsets of genomic loci shown experimentally to influence gene expression. Since gene expression is one of the primary determinants of phenotype, the identification of eQTL may reveal biologically relevant loci and provide functional links ...
Kniazev SP, Reissmann M, Wagner HJ, Kuraĭ MV, Samovolov NV.Results of the first in Russia survey of the gene pool of the breeding nucleus of the Russian population of thoroughbred horses by means of PCR analysis of the E (Extension) locus MC1R gene mutations are presented. The data on the structure of breeding populations from the leading stud farms Voskhod and Oros with regard to color phenotypes as well as genotype and allele frequencies are presented. The population structure parameters are discussed with respect to possible specific features of microevolution processes.
McFadden A, Martin K, Foster G, Vierra M, Lundquist EW, Everts RE, Martin E, Volz E, McLoone K, Brooks SA, Lafayette C.Mutations in KIT, a gene that influences melanoblast migration and pigmentation, often result in mammalian white spotting. As of February 2023, over 30 KIT variants associated with white spotting were documented in Equus caballus (horse). Here we report an association of increased white spotting on the skin and coat with a variant in the 5'UTR of KIT (rs1149701677: g.79,618,649A>C). Horses possessing at least one alternate allele demonstrate phenotypic characteristics similar to other KIT mutations: clear borders around unpigmented regions on the body, face, and limbs. Using a quantitative ...
Poyato-Bonilla J, Sánchez-Guerrero MJ, Cervantes I, Gutiérrez JP, Valera M.Measurements from 13 different morphological traits of importance in the Pura Raza Español (PRE) horse were used to estimate genetic and environmental parameters following a heteroscedastic model in which data were assigned to stallions. Data sets used ranged from 20,610 (height at withers) to 48,486 measurements (length of shoulder), and the number of animals analysed in the pedigrees varied from 17,662 (height at withers) to 23,962 (dorsal-sternal diameter). Results of heritabilities of the traits varied from 0.09 (width of chest and upper neck line) to 0.30 (muscular development). Further,...
Finno CJ, Stevens C, Young A, Affolter V, Joshi NA, Ramsay S, Bannasch DL.Horses belong to the order Perissodactyla and bear the majority of their weight on their third toe; therefore, tremendous force is applied to each hoof. An inherited disease characterized by a phenotype restricted to the dorsal hoof wall was identified in the Connemara pony. Hoof wall separation disease (HWSD) manifests clinically as separation of the dorsal hoof wall along the weight-bearing surface of the hoof during the first year of life. Parents of affected ponies appeared clinically normal, suggesting an autosomal recessive mode of inheritance. A case-control allelic genome wide associat...
Maĭboroda SN.Study of the variability and heritability of sprightliness and exterior characteristics which are the constituent factors of capacity for work of trotting horse breed, permits predicting and planning the direction of selection work in the breed, and determining the efficiency of animals selection according to phenotype. To increase the level of capacity for work of Orloff trotting horse breed, according to the paper data, more consideration should be given to correctness of the exterior, as a biomechanical basis of the horse motion.
Han H, McGivney BA, Farries G, Katz LM, MacHugh DE, Randhawa IAS, Hill EW.Thoroughbred horse racing is a global sport with major hubs in Europe, North America, Australasia and Japan. Regional preferences for certain traits have resulted in phenotypic variation that may result from adaptation to the local racing ecosystem. Here, we test the hypothesis that genes selected for regional phenotypic variation may be identified by analysis of selection signatures in pan-genomic SNP genotype data. Comparing Australian to non-Australian Thoroughbred horses (n = 99), the most highly differentiated loci in a composite selection signals (CSS) analysis were on ECA6 (34.75-34.85 ...
Horín P, Smola J, Matiasovic J, Vyskocil M, Lukeszová L, Tomanová K, Králík P, Glasnák V, Schröffelová D, Knoll A, Sedlinská M, Krenková L....Polymorphic markers identified in the horse genes encoding the interleukin 12 p40 subunit, interferon gamma, tumor necrosis factor receptor 1, and inducible nitric oxide synthase were identified and tested, along with additional markers, for associations with two important horse infections: Rhodococcus equi and Lawsonia intracellularis. Eight immune response-related and 14 microsatellite loci covering 12 out of 31 equine autosomes were used for the association analysis. Markers located on horse Chromosomes Eca10 and 15 were significantly associated with the presence of high numbers of R. equi ...
Ewart SL, Robinson NE.This review highlights the critical importance of phenotype definition in the understanding of the pathogenesis of respiratory disease in horses. The general approach to genetic studies is discussed and comparative studies of recurrent airway obstruction (RAO) conditions, such as asthma, described in the context of learning more about equivalent equine conditions. The availability of methods to study genetic tests have previously relied on DNA sequence knowledge from man, laboratory and domesticated animals, but recent data from the horse genome sequence are now available. This should facilita...
Bartolomé E, Menéndez-Buxadera A, Valera M, Cervantes I, Molina A.The purpose of this study was to study phenotypic plasticity ability for Show Jumping performance in horses according to age differences. For this study, 11 352 participations, belonging to 1085 horses grouped by age (4-, 5- or 6-year olds), were analysed. repeatability animal models (RAM) and multiple trait animal models (MTAM) were compared. RAM assumed the same covariance components for all age groups, whereas MTAM considered the results of every animal at every age group as different (but correlated) traits. The age, sex, starting order and training level were included as fixed effects. T...
