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.
He S, Zhang L, Li W, Liu M.Recently, a SNP (BIEC2-808543) was demonstrated to be associated with equine body size in horses. In this study, we genotyped BIEC2-808543 SNPs in 314 Yili horses in order to evaluate the association between genotype and body composition traits, such as body weight, withers height, chest circumference, and cannon circumference. Results indicate significant associations between polymorphisms of this SNP and body conformation in Yili horse populations. Based on these results, we hypothesize that BIEC2-808543 is strongly related to body conformation of Yili horses and has the potential to be used...
Tessier L, Bienzle D, Williams LB, Koch TG.Multipotent mesenchymal stromal cells (MSC) have attracted interest for their cytotherapeutic potential, partly due to their immunomodulatory abilities. The aim of this study was to test the robustness of our equine cord blood (CB) MSC isolation protocol, to characterize the CB-MSC before and after cryopreservation, and to evaluate their immunosuppressive phenotype. We hypothesized that MSC can be consistently isolated from equine CB, have unique and reproducible marker expression and in vitro suppress lymphoproliferation. Preliminary investigation of constitutive cytoplasmic Toll-like recepto...
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...
Haase B, Rieder S, Leeb T.White spotting phenotypes have been intensively studied in horses, and although similar phenotypes occur in the donkey, little is known about the molecular genetics underlying these patterns in donkeys. White spotting in donkeys can range from only a few white areas to almost complete depigmentation and is characterised by a loss of pigmentation usually progressing from a white spot in the hip area. Completely white-born donkeys are rare, and the phenotype is characterised by the complete absence of pigment resulting in pink skin and a white coat. A dominant mode of inheritance has been demons...
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...
Patterson L, Staiger EA, Brooks SA.The Mangalarga Marchador (MM) is a Brazilian horse breed known for a uniquely smooth gait. A recent publication described a mutation in the DMRT3 gene that the authors claim controls the ability to perform lateral patterned gaits (Andersson et al. 2012). We tested 81 MM samples for the DMRT3 mutation using extracted DNA from hair bulbs using a novel RFLP. Horses were phenotypically categorized by their gait type (batida or picada), as recorded by the Brazilian Mangalarga Marchador Breeders Association (ABCCMM). Statistical analysis using the plink toolset (Purcell, 2007) revealed significant a...
Legarra A, Croiseau P, Sanchez MP, Teyssèdre S, Sallé G, Allais S, Fritz S, Moreno CR, Ricard A, Elsen JM.With dense genotyping, many choices exist for methods to detect quantitative trait loci (QTL) in livestock populations. However, no across-species study has been conducted on the performance of different methods using real data. We compared three methods that correct for relatedness either implicitly or explicitly: linkage and linkage disequilibrium haplotype-based analysis (LDLA), efficient mixed-model association (EMMA) analysis, and Bayesian whole-genome regression (BayesC). We analyzed one chromosome in each of five datasets (dairy cattle, beef cattle, sheep, horses, and pigs) using real g...
Druml T, Dobretsberger M, Brem G.In this experiment, which is based on a cohort of 44 Lipizzan mares from the Austrian state stud farm of Piber, we present new statistical techniques for the analysis of shape and equine conformation using image data. In addition, we examined which strategies and procedures of image processing techniques led to a successful interpretation of the traits implemented in horse breeding programs. A total of 246 two-dimensional anatomical and somatometric landmarks were digitized from standardized photographs, and the variation of shape has been analyzed by the use of generalized orthogonal least-sq...
Alipour F, Parham A, Kazemi Mehrjerdi H, Dehghani H.Because of the therapeutic application of stem cells (SCs), isolation and characterization of different types of SCs, especially mesenchymal stem cells (MSCs), have gained considerable attention in recent studies. Adipose tissue is an abundant and accessible source of MSCs which can be used for tissue engineering and in particular for treatment of musculoskeletal disorders. This study was aimed to isolate and culture equine adipose-derived MSCs (AT-MSCs) from little amounts of fat tissue samples and determine some of their biological characteristics. Methods: In this descriptive study, only 3-...
Brard S, Ricard A.A genome-wide association study was performed to identify single nucleotide polymorphisms (SNPs) associated with jumping performances of warmbloods in France. The 999 horses included in the study for jumping performances were sport horses [mostly Selle Français (68%), Anglo-Arabians (13%) and horses from the other European studbooks]. Horses were genotyped using the Illumina EquineSNP50 BeadChip. Of the 54,602 SNPs available on this chip, 44,424 were retained after quality testing. Phenotypes were obtained by deregressing official breeding values for jumping competitions to use all available ...
Ludwig A, Reissmann M, Benecke N, Bellone R, Sandoval-Castellanos E, Cieslak M, Fortes GG, Morales-Muñiz A, Hofreiter M, Pruvost M.Leopard complex spotting is inherited by the incompletely dominant locus, LP, which also causes congenital stationary night blindness in homozygous horses. We investigated an associated single nucleotide polymorphism in the TRPM1 gene in 96 archaeological bones from 31 localities from Late Pleistocene (approx. 17 000 YBP) to medieval times. The first genetic evidence of LP spotting in Europe dates back to the Pleistocene. We tested for temporal changes in the LP associated allele frequency and estimated coefficients of selection by means of approximate Bayesian computation analyses. Our result...
Mohanty N, Gulati BR, Kumar R, Gera S, Kumar S, Kumar P, Yadav PS.Mesenchymal stem cells (MSCs) offer promise as therapeutic aid in the repair of tendon and ligament injuries in race horses. Fetal adnexa is considered as an ideal source of MSCs due to many advantages, including non-invasive nature of isolation procedures and availability of large tissue mass for harvesting the cells. However, MSCs isolated from equine fetal adnexa have not been fully characterized due to lack of species-specific markers. Therefore, this study was carried out to isolate MSCs from equine umbilical cord blood (UCB) and characterize them using cross-reactive markers. The plastic...
Jun J, Cho YS, Hu H, Kim HM, Jho S, Gadhvi P, Park KM, Lim J, Paek WK, Han K, Manica A, Edwards JS, Bhak J.The horse (Equus ferus caballus) is one of the earliest domesticated species and has played an important role in the development of human societies over the past 5,000 years. In this study, we characterized the genome of the Marwari horse, a rare breed with unique phenotypic characteristics, including inwardly turned ear tips. It is thought to have originated from the crossbreeding of local Indian ponies with Arabian horses beginning in the 12th century. Results: We generated 101 Gb (~30 × coverage) of whole genome sequences from a Marwari horse using the Illumina HiSeq2000 sequencer. The seq...
Anaya G, Moreno-Millán M, Bugno-Poniewierska M, Pawlina K, Membrillo A, Molina A, Demyda-Peyrás S.Horses are characterized as having a greater rate of chromosomal abnormalities than other species, which are mainly related to the sex chromosome pair and produce a series of different anomalies known as disorders in sexual development (DSD). In the present study, three Pura Raza Española (PRE) and one Menorquín (MEN) horses were studied and an incompatibility in their genetic and phenotypic sex were detected. Animals were karyotyped by conventional and molecular cytogenetic analyses and characterized using genomic techniques. Although all individuals, were totally unrelated, these animals h...
Kehrli D, Jandova V, Fey K, Jahn P, Gerber V.Multiple hypersensitivities (MHS) have been described in humans, cats, and dogs, but not horses. Objective: Horses suffering from recurrent airway obstruction (RAO), insect bite hypersensitivity (IBH), or urticaria (URT) will have an increased risk of also being affected by another one of these hypersensitivities. This predisposition for MHS also will be associated with decreased shedding of strongylid eggs in feces and with a single nucleotide polymorphism (SNP BIEC2-224511), previously shown to be associated with RAO. Methods: The first population (P1) included 119 randomly sampled horses re...
Legrand R, Tiret L, Abitbol M.Seven donkey breeds are recognized by the French studbook. Individuals from the Pyrenean, Provence, Berry Black, Normand, Cotentin and Bourbonnais breeds are characterized by a short coat, while those from the Poitou breed (Baudet du Poitou) are characterized by a long-hair phenotype. We hypothesized that loss-of-function mutations in the FGF5 (fibroblast growth factor 5) gene, which are associated with a long-hair phenotype in several mammalian species, may account for the special coat feature of Poitou donkeys. To the best of our knowledge, mutations in FGF5 have never been described in Equi...
Abitbol M, Legrand R, Tiret L.The seven donkey breeds recognised by the French studbook are characterised by few coat colours: black, bay and grey. Normand bay donkeys seldom give birth to red foals, a colour more commonly seen and recognised in American miniature donkeys. Red resembles the equine chestnut colour, previously attributed to a mutation in the melanocortin 1 receptor gene (MC1R). We used a panel of 124 donkeys to identify a recessive missense c.629T>C variant in MC1R that showed a perfect association with the red coat colour. This variant leads to a methionine to threonine substitution at position 210 in th...
Jäderkvist K, Andersson LS, Johansson AM, Árnason T, Mikko S, Eriksson S, Andersson L, Lindgren G.In a previous study it was shown that a nonsense mutation in the DMRT3 gene alters the pattern of locomotion in horses and that this mutation has a strong positive impact on trotting performance of Standardbreds. One aim of this study was to test if racing performance and trotting technique in the Nordic (Coldblood) trotters are also influenced by the DMRT3 genotype. Another aim was to further investigate the effect of the mutation on performance in Standardbreds, by using a within-family analysis and genotype-phenotype correlations in a larger horse material than in the previous study. We gen...
Lee JR, Hong CP, Moon JW, Jung YD, Kim DS, Kim TH, Gim JA, Bae JH, Choi Y, Eo J, Kwon YJ, Song S, Ko J, Yang YM, Lee HK, Park KD, Ahn K, Do KT, Ha HS....DNA methylation is an epigenetic regulatory mechanism that plays an essential role in mediating biological processes and determining phenotypic plasticity in organisms. Although the horse reference genome and whole transcriptome data are publically available the global DNA methylation data are yet to be known. Results: We report the first genome-wide DNA methylation characteristics data from skeletal muscle, heart, lung, and cerebrum tissues of thoroughbred (TH) and Jeju (JH) horses, an indigenous Korea breed, respectively by methyl-DNA immunoprecipitation sequencing. The analysis of the DNA m...
Britz E, Spier SJ, Kass PH, Edman JM, Foley JE.Equine infection with Corynebacterium pseudotuberculosis can manifest in several forms, including external or internal abscesses. The objective of this study was to phenotype clinical isolates of C. pseudotuberculosis and to investigate the relationship between lesion location and extent of lesions in the animals from which they were collected. One hundred and seventy-one C. pseudotuberculosis biovar equi isolates were collected from horses presenting to the University of California Veterinary Medical Teaching Hospital and two other sources in the period between September 1996 and December 201...
Haase B, Signer-Hasler H, Binns MM, Obexer-Ruff G, Hauswirth R, Bellone RR, Burger D, Rieder S, Wade CM, Leeb T.Coat color and pattern variations in domestic animals are frequently inherited as simple monogenic traits, but a number are known to have a complex genetic basis. While the analysis of complex trait data remains a challenge in all species, we can use the reduced haplotypic diversity in domestic animal populations to gain insight into the genomic interactions underlying complex phenotypes. White face and leg markings are examples of complex traits in horses where little is known of the underlying genetics. In this study, Franches-Montagnes (FM) horses were scored for the occurrence of white fac...
Christen G, Gerber V, Dolf G, Burger D, Koch C.The mode of inheritance for susceptibility to equine sarcoid disease (ES) remains unknown. The objectives of this study were to analyse a large sample of the Franches-Montagnes (FM) horse population and investigate the heritability and mode of inheritance for susceptibility to ES. Horses were clinically examined for the presence of sarcoid tumours. A standardized examination protocol and client questionnaire were used and a pedigree- and subsequent segregation-analysis for the ES trait performed. To investigate the mode of inheritance, five models were evaluated and compared in a hierarchical ...
Andersson LS, Wilbe M, Viluma A, Cothran G, Ekesten B, Ewart S, Lindgren G.Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome is a heritable eye disorder mainly affecting silver colored horses. Clinically, the disease manifests in two distinct classes depending on the horse genotype. Horses homozygous for the mutant allele present with a wide range of ocular defects, such as iris stromal hypoplasia, abnormal pectinate ligaments, megaloglobus, iridociliary cysts and cataracts. The phenotype of heterozygous horses is less severe and predominantly includes iridociliary cysts, which occasionally extend into the temporal retina. In order to determine the genetic ...
Kailaanmäki A, Kinnunen T, Kwok WW, Rytkönen-Nissinen M, Randell J, Virtanen T.The responses of allergen-specific CD4(+) T cells of allergic and healthy individuals are still incompletely understood. Our objective was to investigate the functional and phenotypic properties of CD4(+) T cells of horse-allergic and healthy subjects specific to the immunodominant epitope region of the major horse allergen Equ c 1. Specific T-cell lines (TCLs) and clones were generated from peripheral blood mononuclear cells with Equ c 1(143-160), the peptide containing the immunodominant epitope region of Equ c 1. The frequency, proliferative response, cytokine production and HLA restriction...
Switonski M, Mankowska M, Salamon S.The melanocortin receptor gene family consists of five single-exon members, which are located on autosomes. Three genes (MC2R, MC4R and MC5R) are syntenic in the human, mouse, cattle and dog genomes, while in the pig, the syntenic group comprises MC1R, MC2R and MC5R. Two genes (MC1R and MC4R) have been extensively studied due to their function in melanogenesis (MC1R) and energy control (MC4R). Conservative organisation of these genes in five mammalian species (human, mouse, cattle, pig and dog), in terms of the encoded amino acid sequence, is higher in the case of MC4R compared to MC1R. Polymo...
Bowser JE, Elder SH, Pasquali M, Grady JG, Rashmir-Raven AM, Wills R, Swiderski CE.Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive disorder of Quarter Horses characterised by skin fragility. Horses with HERDA have a missense mutation in peptidyl-prolyl cis-trans isomerase B (PPIB), which encodes cyclophilin B and alters folding and post translational modifications of fibrillar collagen. Objective: The study aimed to test the hypothesis that tendons, ligaments and great vessels, which, like skin, are rich in fibrillar collagen, will also have abnormal biomechanical properties in horses with HERDA. Methods: Ex vivo biomechanical study comparing...
Seltenhammer MH, Sundström E, Meisslitzer-Ruppitsch C, Cejka P, Kosiuk J, Neumüller J, Almeder M, Majdic O, Steinberger P, Losert UM, Stöckl J....The Grey horse phenotype, caused by a 4.6 kb duplication in Syntaxin 17, is strongly associated with high incidence of melanoma. In contrast to most human melanomas with an early onset of metastasis, the Grey horse melanomas have an extended period of benign growth, after which 50% or more eventually undergo progression and may metastasize. In efforts to define changes occurring during Grey horse melanoma progression, we established an in vitro model comprised of two cell lines, HoMel-L1 and HoMel-A1, representing a primary and a metastatic stage of the melanoma, respectively. The cell lines ...
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...
Metzger J, Philipp U, Lopes MS, da Camara Machado A, Felicetti M, Silvestrelli M, Distl O.Copy number variants (CNVs) have been shown to play an important role in genetic diversity of mammals and in the development of many complex phenotypic traits. The aim of this study was to perform a standard comparative evaluation of CNVs in horses using three different CNV detection programs and to identify genomic regions associated with body size in horses. Results: Analysis was performed using the Illumina Equine SNP50 genotyping beadchip for 854 horses. CNVs were detected by three different algorithms, CNVPartition, PennCNV and QuantiSNP. Comparative analysis revealed 50 CNVs that affecte...
Sipma KD, Cornillie P, Saulez MN, Stout TA, Voorhout G, Back W.Hydrocephalus is uncommon in horses. However, in recent years, it has become clear that the prevalence of hydrocephalus is greater in Friesian horses than in other breeds probably due to their limited gene pool. Before identification of candidate genes that predispose to the development of hydrocephalus in Friesian horses can be pursued, an in-depth, phenotypic, pathological description of the condition in Friesians would be of great benefit. Our study aimed to characterize the morphology of hydrocephalus in Friesian horses, to support further investigation of the genetic background of this co...
Campana MG, Whitten CM, Edwards CJ, Stock F, Murphy AM, Binns MM, Barker GW, Bower MA.Historic DNA data have the potential to identify phenotypic information otherwise invisible in the historical, archaeological and palaeontological record. In order to determine whether a single nucleotide polymorphism typing protocol based on single based extension (SNaPshot™) could produce reliable phenotypic data from historic samples, we genotyped three coat colour markers for a sample of historic Thoroughbred horses for which both phenotypic and correct genotypic information were known from pedigree information in the General Stud Book. Experimental results were consistent with the pedig...
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...
Eberth JE, Graves KT, MacLeod JN, Bailey E.Chondrodysplastic dwarfism in Miniature horses appeared to be a recessive genetic trait based on the occurrence of affected offspring by normal parents. Dwarf phenotypes vary and range from abnormal abortuses to viable offspring with evidence of skeletal dysplasia. A genome-wide association study implicated a region of ECA1 with dwarfism in Miniature horses. Aggrecan (ACAN) was a candidate gene in that region, and exons were sequenced to compare DNA sequences for dwarf and non-dwarf horses. Sequencing led to the discovery of variants in exons 2, 6, 7 and 15 associated with dwarfism. The four v...
Vecchione A, Catchpole B, D'Mello F, Kanellos T, Hamblin A.Dendritic cells (DCs) are antigen presenting cells that potently modulate immune responses with varying outcomes depending on the DC sub-population involved. To understand how DC sub-types arise, it is necessary to determine which factors influence their differentiation. At least three major sub-populations of DCs have been described in mice: CD4+/CD8- "myeloid" DCs, CD4-/CD8+ "lymphoid" DCs and Langerhans cell-derived DCs. Whilst somewhat comparable populations have been described in man, in most other species very little is known. The identification of cytokines which stimulate proliferation...
MacFadyen AC, Waller AS, Paterson GK.Strain 28462T, which had Gram-stain-positive, catalase-negative coccus-shaped cells, was isolated from a routine tracheal sample from a 3 year old thoroughbred horse. 16S rRNA gene sequence analysis revealed it to be most closely related to, but distinct from, Streptococcus henryi (95.7 % identity), Streptococcusplurextorum (95.8 %), Streptococcusporci (96.4 %) and Streptococcus caprae (95.1 %). Similarity values derived from sequences from sodA and rpoB genes were consistent with strain 28462T belonging to a species distinct from these four streptococci. At the whole genome level, str...
Andersson LS, Lyberg K, Cothran G, Ramsey DT, Juras R, Mikko S, Ekesten B, Ewart S, Lindgren G.The syndrome Multiple Congenital Ocular Anomalies (MCOA) is the collective name ascribed to heritable congenital eye defects in horses. Individuals homozygous for the disease allele (MCOA phenotype) have a wide range of eye anomalies, while heterozygous horses (Cyst phenotype) predominantly have cysts that originate from the temporal ciliary body, iris, and/or peripheral retina. MCOA syndrome is highly prevalent in the Rocky Mountain Horse but the disease is not limited to this breed. Affected horses most often have a Silver coat color; however, a pleiotropic link between these phenotypes is y...
Li B, He XL, Zhao YP, Wang XJ, Manglai D, Zhang YR.Coat color can be used not only in identifying individuals and species, but also in diagnosing certain diseases. The coat color of horse mainly depends on the distribution and proportion of eumelanin and phaeomelanin, generated by melanocytes, which are regulated by the genes such as MC1R, ASIP, KIT, TYRP, and EDNRB. In addition, STX17, MATP, and PMEL17 also play a role in the formation of coat color of horse. In this review, the action mechanism of candidate genes for coat color and association of DNA sequence polymorphism of these candidate genes with color pattern phenotypes and melanoma we...
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...
Bai DY, Yang LH, Unerhu U, Zhao YP, Zhao QN, Hasigaowa H, Dugarjaviin M.Coat color of horse is an important basis for both species identification and individual recognition and is also one of the important references traits for breeding. Therefore, the research on the mechanism of coat fading has become an important part of horses' coat color study. It has been found that the white phenotype is closely related to the mutation of kit gene, which is located on chromosome 3. Investigated results showed that the formation of the epidermal melanoblast and melanin relies on the expression of kit gene, which determines the presence of white phenotype. Nevertheless, studi...
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-...
Kailaanmäki A, Kinnunen T, Kwok WW, Rytkönen-Nissinen M, Randell J, Virtanen T.The responses of allergen-specific CD4(+) T cells of allergic and healthy individuals are still incompletely understood. Our objective was to investigate the functional and phenotypic properties of CD4(+) T cells of horse-allergic and healthy subjects specific to the immunodominant epitope region of the major horse allergen Equ c 1. Specific T-cell lines (TCLs) and clones were generated from peripheral blood mononuclear cells with Equ c 1(143-160), the peptide containing the immunodominant epitope region of Equ c 1. The frequency, proliferative response, cytokine production and HLA restriction...
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 sig...
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...
Prieto JMB, Tallmadge RL, Felippe MJB.Identification and classification of B cell subpopulations has been shown to be challenging and inconsistent among different species. Our study tested aspects of ontogeny, phenotype, tissue distribution, and function of equine CD5 B cells, which represented a greater proportion of B cells early in development and in the peritoneal cavity. CD5 and CD5 B cells differentially expressed B cell markers (CD2, CD21, IgM) measured using flow cytometry, but similar mRNA expression of signature genes (DGKA, FGL2, PAX5, IGHM, IL10) measured using quantitative RT-PCR. Sequencing lambda light chain segment...
Rivas VN, Magdesian KG, Fagan S, Slovis NM, Luethy D, Javsicas LH, Caserto BG, Miller AD, Dahlgren AR, Peterson J, Hales EN, Peng S, Watson KD....Idiopathic hypocalcemia in Thoroughbred (TB) foals causes tetany and seizures and is invariably fatal. Based upon the similarity of this disease with human familial hypoparathyroidism and occurrence only in the TB breed, we conducted a genetic investigation on two affected TB foals. Familial hypoparathyroidism was identified, and pedigree analysis suggested an autosomal recessive (AR) mode of inheritance. We performed whole-genome sequencing of the two foals, their unaffected dams and four unaffected, unrelated TB horses. Both homozygosity mapping and an association analysis were used to prior...
Fowden AL, Giussani DA, Forhead AJ.In many species, the pattern of growth and physiological development in utero has an important role in determining not only neonatal viability but also adult phenotype and disease susceptibility. Changes in fetal development induced by a range of environmental factors including maternal nutrition, disease, placental insufficiency and social stresses have all been shown to induce adult cardiovascular and metabolic dysfunction that often lead to ill health in later life. Compared to other precocious animals, much less is known about the physiological development of the fetal horse or the longer-...
Shin JA, Yang YH, Kim HS, Yun YM, Lee KK.The study was carried out to investigate the genetic polymorphism of the serum proteins of horses in Cheju. They were assigned to three groups; 45 Cheju native horses(CNH), 60 Cheju racing horses(CRH) and 60 Thoroughbreds(TB). We analyzed the phenotypes and gene frequencies of serum proteins which were albumin (Alb), vitamin-D binding protein(GC), esterase (ES), A1B glycoprotein(A1B) and transferrin(TF) loci using horizontal polyacrylamide gel electrophoresis (HPAGE). All of the loci, except A1B in TB, showed polymorphisms and different allelic and phenotypic frequencies in all three groups. E...
Lalko CC, Deppe E, Ulatowski D, Lutgen A, Hart AP, Patton EA, Lunn DP, Suresh M, Darien BJ.Acute inflammatory diseases, such as colic, septicemia and endotoxemia are common in equines and have been shown to be correlated to vascular injury and thrombosis. In humans with similar thrombotic conditions, P-selectin and P-selectin glycoprotein ligand-1 (PSGL-1)-mediated platelet-leukocyte adhesion contributes to the pathogenesis of these disorders through the generation of inflammatory mediators and tissue factor. As such, we hypothesized that a P-selectin-PSGL-1 (platelet-leukocyte) interaction, similar to that in humans, may also exist in the horse. The objective of this study was to i...
Haase B, Jude R, Brooks SA, Leeb T.The tobiano white-spotting pattern is one of several known depigmentation phenotypes in horses and is desired by many horse breeders and owners. The tobiano spotting phenotype is inherited as an autosomal dominant trait. Horses that are heterozygous or homozygous for the tobiano allele (To) are phenotypically indistinguishable. A SNP associated with To had previously been identified in intron 13 of the equine KIT gene and was used for an indirect gene test. The test was useful in several horse breeds. However, genotyping this sequence variant in the Lewitzer horse breed revealed that 14% of ho...
Sipma KD, Cornillie P, Saulez MN, Stout TA, Voorhout G, Back W.Hydrocephalus is uncommon in horses. However, in recent years, it has become clear that the prevalence of hydrocephalus is greater in Friesian horses than in other breeds probably due to their limited gene pool. Before identification of candidate genes that predispose to the development of hydrocephalus in Friesian horses can be pursued, an in-depth, phenotypic, pathological description of the condition in Friesians would be of great benefit. Our study aimed to characterize the morphology of hydrocephalus in Friesian horses, to support further investigation of the genetic background of this co...
Gerber V, Swinburne JE, Blott SC, Nussbaumer P, Ramseyer A, Klukowska-Rötzler J, Dolf G, Marti E, Burger D, Leeb T.Recurrent airway obstruction (RAO) is a multifactorial and polygenic disease. Affected horses are typically 7 years of age or older and show exercise intolerance, increased breathing effort, coughing, airway neutrophilia, mucus accumulation and hyperreactivity as well as cholinergic bronchospasm. The environmental factors responsible are predominantly allergens and irritants in haydust, but the immunological mechanisms underlying RAO are still unclear. Several studies have demonstrated a familiar predisposition for RAO and it is now proven that the disease has a genetic basis. In offspring, th...
Mackowski M, Wodas L, Brooks SA, Cieslak J.Although only a few specific pigmentation types are allowed within the Hucul horse registry, accurate determination of particular coat colors can be uncertain due to the presence of variation in color shades and segregation of multiple dun dilution variants. Herein, we genotyped the previously identified polymorphisms within two coat color loci TBX3 (T-box 3) and ASIP (Agouti Signaling Protein) in 462 Hucul individuals and compared the genotype predicted phenotypes with observed pigmentation types provided in the Polish Horse Breeders Association database. We identified disagreement between th...
Back W, van der Lugt JJ, Nikkels PG, van den Belt AJ, van der Kolk JH, Stout TA.An extreme form of abnormal development, dwarfism, is common in man and some animals, but has not been officially reported in horses. Within the Friesian horse breed, congenital dwarfism has been recognised for many years, but no detailed report exists on its phenotype. The most salient feature of the dwarf syndrome is the physeal growth retardation in both limbs and ribs. Affected animals have approximately 25% shorter fore- and hindlimbs and approximately 50% reduced bodyweight. Postnatal growth is still possible in these animals, albeit at a slower rate: the head and back grow faster than t...
Kagan IA, Goodman JP, Seman DH, Lawrence LM, Smith SR.Grasses are a source of nutrients for grazing horses. However, water-soluble carbohydrates (WSCs) of grasses have been implicated in some equine health issues. Grasses also contain phenolic compounds, whose sensory and antimicrobial properties may affect forage intake by horses and horse health. The goals of this study were to assess factors affecting phenolic and WSC concentrations in selected cultivars of cool-season grasses and profile the phenolic compounds. Total phenolics and WSC were quantified in "Linn" and "Calibra" perennial ryegrass (PRG), "Cajun II" tall fescue (Cajun TF), "Persist...
The Journal of heredityApril 30, 2017
Volume 108, Issue 5 505-514 doi: 10.1093/jhered/esx039
Druml T, Grilz-Seger G, Neuditschko M, Neuhauser B, Brem G.Genetic analyses of coat colors are frequently restricted to subjectively categorized phenotype information. The aim of this study was to develop a method to numerically quantify the variability of leopard complex (LP) spotting phenotypes introducing tools from image analysis. Generalized Procrustes analysis eliminates systematic errors due to imaging process. The binarization of normalized images and the application of principal component analysis (PCA) on the derived pixel matrices, transform pixel information into numerical data space. We applied these methods on 90 images to ascertain the ...
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...
