Topic:Coat Color
Coat color in horses is determined by genetic factors that influence the pigmentation of the hair. The primary pigments responsible for coat color are eumelanin, which produces black or brown shades, and pheomelanin, which results in red or yellow hues. The interaction between these pigments and various genetic loci, such as the Extension (E) and Agouti (A) loci, leads to the wide range of coat colors observed in horse breeds. In addition to these basic colors, dilution genes and other modifiers can create variations such as palomino, buckskin, and roan. Understanding coat color genetics is not only of interest for breeding purposes but also for its association with certain health conditions and behaviors. This page compiles peer-reviewed research studies and scholarly articles that explore the genetic mechanisms, inheritance patterns, and implications of coat color in horses.
Two Novel Variants in MITF and PAX3 Associated With Splashed White Phenotypes in Horses. Mutations causing depigmentation are relatively common in Equus caballus (horse). Over 40 alleles in multiple genes are associated with increased white spotting (as of February 2023). The splashed white phenotype, a coat spotting pattern described as appearing like the horse has been splashed with white paint, was previously associated with variants in the PAX3 and MITF genes. Both genes encode transcription factors known to control melanocyte migration and pigmentation. We report two novel mutations, a stop-gain mutation in PAX3 (XM_005610643.3:c.927C>T, ECA6:11,196,181, EquCab3.0) and a m...
Characteristic of Przewalski horses population from Askania-Nova reserve based on genetic markers. Przewalski horses are considered the last living population of wild horses, however, they are secondarily feral offspring of herds domesticated ~ 5000 years ago by the Botai culture. After Przewalski horses were almost extinct at the beginning of the twentieth century, their population is about 2500 individuals worldwide, with one of the largest breeding centers in Askania-Nova Biosphere Reserve (Ukraine). The research aimed to establish the maternal variation of Przewalski horses population maintained in Askania-Nova Reserve based on mitochondrial DNA hypervariable 1 and hypervariable 2 r...
5’UTR Variant in KIT Associated With White Spotting in Horses. 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 ...
Juvenile idiopathic epilepsy in Arabian horses is not a single-gene disorder. Valued for their temperament, beauty, athletic ability, and exhibition in the show ring, Arabian horses are an important component of the horse industry. Juvenile idiopathic epilepsy (JIE), a seizure disorder, is most often reported in Arabian foals from birth to 6 months of age. Affected foals exhibit tonic-clonic seizures lasting as long as 5 min and risking secondary complications like temporary blindness and disorientation. Some foals outgrow this condition, while others die or suffer lifelong complications if not treated. Previous work suggested a strong genetic component to JIE and propo...
Prevalence of Chronic Progressive Lymphedema in the Rhenish German Draught Horse. Chronic progressive lymphedema (CPL) is a common disease in Rhenisch German draught horses. The objective of our study was to evaluate the prevalence of this disease and its progression with age in 493 Rhenish German draught horses from different regions in Germany. We employed generalized linear models with binomial, multinomial, and normal distributions to analyse the effects of breeding association, coat colour, sex and age within sex, time of examination, limb on which CPL was recorded, and farm-related factors on disease scores. The occurrence and severity of CPL were significantly influe...
Prevalence, differences, and potential correlation to age, sex, breed, coat color, iris color, and geographic location in naturally occurring refractive errors in the normal equine eye from Germany and North Carolina. To evaluate the normal refractive state in horses in NCSU and ECMR and determine the prevalence of naturally occurring refractive errors and their association with breed, age, coat color, iris color, sex, and geographic location. Methods: Horses from NCSU (January 2009-November 2012) and ECMR (January 2013-September 2016) underwent ophthalmic examination and streak retinoscopy. Location, color, breed, sex, and iris color were recorded. Gross and net refractive values for each meridian (horizontal and vertical), spherical refraction, astigmatism for both eyes, and anisometry were recorded, and ...
Estimating Temporally Variable Selection Intensity from Ancient DNA Data. Novel technologies for recovering DNA information from archaeological and historical specimens have made available an ever-increasing amount of temporally spaced genetic samples from natural populations. These genetic time series permit the direct assessment of patterns of temporal changes in allele frequencies and hold the promise of improving power for the inference of selection. Increased time resolution can further facilitate testing hypotheses regarding the drivers of past selection events such as the incidence of plant and animal domestication. However, studying past selection processes ...
Effects of High-Intensity Laser Therapy (HILT) on Skin Surface Temperature and Vein Diameter in Healthy Racehorses with Clipped and Non-Clipped Coat. The aim of this study was to investigate the differences in the effects of high-intensity laser therapy (HILT) on skin surface temperature and vein diameter in the carpal joint region in racehorses with clipped and non-clipped treatment areas. The study included 20 Thoroughbreds split into two equal groups: clipped coat and non-clipped coat. Horses underwent thermographic examination to detect changes in skin surface temperature at the medial surface of the carpal joint, followed by ultrasonographic examination to assess changes in the diameter of the medial palmar vein before and after HILT. ...
Changes in Hair Coat Length and Diameter in Blanketed and Nonblanketed Adult Horses in the Winter. Horses are often blanketed during cold weather for numerous reasons including assisting thermoregulation, cleanliness, and anecdotally to decrease hair coat length. However, the impact of blanketing on the hair coat has yet to be evaluated. The objective of this study was to evaluate changes in hair coat length and diameter over time in blanketed and nonblanketed horses during winter. In October 2019, 16 mature adult horses were blocked by breed and BCS and randomly assigned to a blanketed (n = 8) or nonblanketed (n = 8) treatment; blankets were placed. Data was collected between October 2...
Seroprevalence of Equine Influenza and Its Associated Risk Factors in Northwest Nigeria. Equine influenza (EI) is a fast-spreading respiratory disease of equids caused by equine influenza A virus (EIV), often resulting in high morbidity and a huge economic impact on the equine industry globally. In this cross-sectional study to determine the seroprevalence of EI and its associated risk factors, sera from 830 horses bled on a single occasion in Northwest Nigeria between October 2019 and January 2020 were screened for antibodies to A/equine/Richmond/1/2007 (H3N8) using the single radial haemolysis (SRH) assay. Antibodies were detected in 71.3% (592/830, 95% CI: 68−74%) of horses (...
Risk factors for insidious uveitis in the Knabstrupper breed. Equine recurrent uveitis (ERU) is the leading cause of blindness for horses; previous research implicated the leopard complex spotting allele (LP) as a genetic risk factor for insidious uveitis in the Appaloosa. There is limited information about risk in the Knabstrupper. Objective: To evaluate clinical manifestations, disease frequency and potential risk factors for ERU in Knabstrupper horses. Methods: Cross-sectional study. Methods: Ocular examinations were performed on 116 horses, and based on identified anomalies, horses were classified as suspect, ERU-affected or having no clinical signs....
Seasonal Changes in Trace-Element Content in the Coat of Hucul Horses. The purpose of the study was to evaluate seasonal changes in selected trace elements such as Fe, Cu, Mn, Zn, and Al in the coat of healthy Hucul horses kept in south-eastern Poland in two different facilities and fed with locally sourced feed. The coat for the study was collected from 24 individuals in autumn, winter, and spring. The concentration of elements in the feed was also determined. The date of collection had a significant effect on the concentration of the micronutrients analysed in the coat of Hucul horses. The highest concentration of Zn was found in the coat taken in summer. The c...
Characterization of the Sarcidano Horse Coat Color Genes. The goal of this study was to contribute to the general knowledge of the Sarcidano Horse, both by the identification of the genetic basis of the coat color and by updating the exact locations of the genotyping sites, based on the current EquCab3.0 genome assembly version. One-hundred Sarcidano Horses, living in semi-feral condition, have been captured to perform health and biometric checks. From that total number, 70 individual samples of whole blood were used for DNA extraction, aimed to characterize the genetic basis of the coat color. By genotyping and sequencing analyses of the Exon 1 and...
Basal Reactivity Evaluated by Infrared Thermography in the “Caballo de Deporte Español” Horse Breed According to Its Coat Color. Horses have been valued for their diversity of coat color since prehistoric times. In particular, the pleiotropic effect that coat color genes have on behavior determines the way the horse perceives and reacts to its environment. The primary aim of this study was to evaluate the influence of coat color on basal reactivity assessed with infrared thermography as eye temperature at rest (ETR), determine their relation with the results obtained by these horses in Show Jumping competitions and to estimate the genetic parameters for this variable to test its suitability for genetic selection. A Gene...
Breed Distribution and Allele Frequencies of Base Coat Color, Dilution, and White Patterning Variants across 28 Horse Breeds. Since domestication, horses have been selectively bred for various coat colors and white spotting patterns. To investigate breed distribution, allele frequencies, and potential lethal variants for recommendations on genetic testing, 29 variants within 14 genes were investigated in 11,281 horses from 28 breeds. The recessive chestnut ea allele in melanocortin 1 receptor (MC1R) (p.D84N) was identified in four breeds: Knabstrupper, Paint Horse, Percheron, and Quarter Horse. After filtering for relatedness, ea allele frequency in Knabstruppers was estimated at 0.035, thus illustrating the importan...
Morpho-Functional Traits in Pura Raza Menorquina Horses: Genetic Parameters and Relationship with Coat Color Variables. The studbook of Pura Raza Menorquina horses only permits the use of black-coated animals with a small quantity of white marks as breeding stock. Its breeding program uses linear morpho-functional traits as selection criteria. Our aim was to estimate the genetic parameters of linear morpho-functional traits, and reveal relationship of quality of black coat color (QB) and percentage of white marks (WM) with the other morphological and functional linear traits in this breed. A total of 46 linear traits were scored by four appraisers using seven classes, with a total of 772 records from 333 animal...
A KIT Variant Associated with Increased White Spotting Epistatic to MC1R Genotype in Horses (Equus caballus). Over 40 identified genetic variants contribute to white spotting in the horse. White markings and spotting are under selection for their impact on the economic value of an equine, yet many phenotypes have an unknown genetic basis. Previous studies also demonstrate an interaction between MC1R and ASIP pigmentation loci and white spotting associated with KIT and MITF. We investigated two stallions presenting with a white spotting phenotype of unknown cause. Exon sequencing of the KIT and MITF candidate genes identified a missense variant in KIT (rs1140732842, NC_009146.3:g.79566881T>C, p.T391A) ...
Roan coat color in livestock. Since domestication, a wide variety of phenotypes including coat color variation has developed in livestock. This variation is mostly based on selective breeding. During the beginning of selective breeding, potential negative consequences did not become immediately evident due to low frequencies of homozygous animals and have been occasionally neglected. However, numerous studies of coat color genetics have been carried out over more than a century and, meanwhile, pleiotropic effects for several coat color genes, including disorders of even lethal impact, were described. Similar coat color phe...
Cortisol Concentration in Horsehair and its Relationship to Body Location, Coat Colour, and Gender. The determination of cortisol concentrations in animal hair appears to be a relatively simple and non-invasive method of assessing chronic stress. This method has advantages but it also has some drawbacks. We discovered that there are specific coat properties and individual factors in animlas that can affect corisol levels and skew the interpretation of results. We removed horsehair from 8 different areas of the body (chest, left saddle, right saddle, right thoracic fetlock, and left thoracic fetlock, the mane was also sampled at the withers, just behind the ears, and the tail strand) in 31 ho...
The origin and domestication history of domestic horses and the domestication characteristics of breeds. The horse (Equus caballus) was domesticated thousands of years after dog, cattle, pig, sheep, and goat. Importantly, it represents the domestic animal that mostly impacted the development of human civilization. Its excellent loading and moving ability prompted the changes from fixed farming mode into mobile sharing mode. Accordingly, its domestication history deserves considerable attention. So far, many issues have long been controversial, due to the extinction of the closest wild relatives and the dramatic reduction of genetic diversity. With the continuous development of sequencing technolo...
One Hundred Years of Coat Colour Influences on Genetic Diversity in the Process of Development of a Composite Horse Breed. Genetic diversity and demographic parameters were computed to evaluate the historic effects of coat colour segregation in the process of configuration of the Hispano-Arabian horse (Há). Pedigree records from 207,100 individuals born between 1884 and 2019 were used. Although coat colour is not a determinant for the admission of Hispano-Arabian individuals as apt for breeding, it may provide a representative visual insight into the gene contribution of Spanish Purebred horses (PRE), given many of the dilution genes described in Há are not present in the Arabian Purebred breed (PRá). The lack ...
Identification of W13 in the American Miniature Horse and Shetland Pony Populations. Coat color is a trait of economic significance in horses. Variants in seven genes have been documented to cause white patterning in horses. Of the 34 variants that have been identified in KIT proto-oncogene, receptor tyrosine kinase (), 27 have only been reported in a single individual or family and thus not all are routinely offered for genetic testing. Therefore, to enable proper use of marker-assisted selection, determining breed specificity for these alleles is warranted. Screening 19 unregistered all-white Shetland ponies for 16 white patterning markers identified 14 individuals whose phe...
Ocular abnormalities in the Icelandic horse with a focus on equine recurrent uveitis: 112 Icelandic horses living in Denmark and 26 Icelandic horses living in the United States. To describe the most common ocular abnormalities in the Icelandic horse with focus on equine recurrent uveitis (ERU) and association between ocular abnormalities and summer eczema and coat colors. Methods: A descriptive cross-sectional study. A complete physical and ophthalmic examination as well as measurement of serum titers for Leptospira serovariants was performed on Icelandic horses from Denmark (DK) and the United States (USA). Results: One hundred and twelve Icelandic horses living in DK and 26 Icelandic horses living in the United States were included in this study (total of 138 horse...
DPF3, A Putative Candidate Gene For Melanoma Etiopathogenesis in Gray Horses. Melanoma prevalence in gray horses reaches up to 50% and more. Several studies have documented a genetic melanoma predisposition which is referred to the 4.6 kb duplication in intron 6 of STX17 and its surrounding haplotype. However, the genetic background and mechanisms responsible for differences in etiopathogenesis of equine dermal melanomatosis still remain unknown. In the current study, we performed a genome wide association analysis in 141 Lipizzan horses and subsequently identified one candidate gene on chromosome 24 putatively involved in melanoma pathogenesis in gray horses. The assoc...
Multiple Congenital Ocular Anomalies in a silver coat Missouri Fox Trotter stallion. This is the first description of Multiple Congenital Ocular Anomalies (MCOA) in a silver coat Missouri Fox Trotter determined to be heterozygous for the Silver PMEL17 missense mutation associated with MCOA and a silver coat in other breeds. The stallion was treated for meningoencephalitis and bilateral uveitis of unknown origin. A complete ophthalmic examination and ocular ultrasonography were performed. As an incidental finding, the patient exhibited bilateral cystic lesions restricted to the temporal anterior uvea consistent with the Cyst phenotype and was genotyped heterozygous for the Silv...
Genetic Background of the Polish Primitive Horse (Konik) Coat Color Variation-New Insight into Dun Dilution Phenotypic Effect. Only the blue dun coat color, produced by the action of the dun allele on the background of a black base coat, is officially permitted in the Polish primitive horse (PPH, Konik) breed, yet the population is not visually homogenous and various coat color shades occur. Herein, the molecular background of PPH coat color was studied based on genotyping of known causative variants in equine coat color-related genes (ASIP, MC1R, TBX3, SLC36A1, SLC45A2, PMEL17, and RALY). Additionally, screening for the new polymorphisms was conducted for the ASIP gene coding sequence and the TBX3 1.6-kb insert (asso...
GWAS Identifies a Region Containing the SALL1 Gene in Variation of Pigmentation Intensity Within the Chestnut Coat Color of Horses. Chestnut coat color in horses is determined by a missense mutation within the MC1R gene. However, the intensity of the chestnut color can vary widely within individuals possessing this genotype. Here, we investigated this variation using standardized photographs of 96 horses. Each horse was ranked lightest to darkest within the cohort for phenotype by 3 blinded observers. A genome-wide association study utilizing the relative shade ranking as the phenotype and using 268 487 single-nucleotide polymorphisms (SNPs) genotyped using the Affymetrix Equine 670k array identified a single significantly...