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.
Differential Expression and Analysis of TBX3 Gene in Skin Tissues of Dun Mongolian Horses with and Without Bider Markings. (1) Background: The dun coat color, a wild-type phenotype in horses characterized by pigment dilution and primitive markings, is regulated by . This study explored the expression and localization of in the Bider marking (a primitive mark unique to the shoulder of horses); (2) Methods: We compared skin tissues from Bider-marked and non-Bider dun Mongolian horses. Samples were collected from the Bider area (dark-colored/light-colored shoulder), dorsal midline, and croup. Histological staining, qRT-PCR, and Western blotting were used to analyze pigment distribution and expression at mRNA and pr...
Preimplantation genetic testing in horses: biopsy of Piezo-ICSI embryos for sex, coat color, and disease alleles. The introduction of ovum pick-up, Intracytoplasmic Sperm Injection (ICSI) and in vitro embryo production in equine reproduction offers significant advantages, including overcoming infertility, high blastocyst yields, embryo cryopreservation, and preimplantation genetic testing (PGT) by collecting few cells extruded spontaneously during embryo growth using a mouth pipette. PGT enables embryo selection before transfer and is particularly useful in breeds with a preference for specific offspring genders, coat color, and detecting genetic diseases. Here, we present the first large-scale validation...
Identification of Two Genetic Haplotypes Associated with the Roan Coat Color in the American Quarter Horse and Other Equine Breeds. The roan coat color is described as the dispersion of white hairs within an otherwise solid background color coat. This phenotype is primarily expressed on the body of the horse, with the head and legs exhibiting few to no white hairs. Previous studies mapped the locus for roan to the KIT region and observed linked variants in a small number of breeds. However, utilizing those linked markers to determine the roan genotype in other breeds has seen limited success. In this communication we identify a second roan allele (RN2) which, in conjunction with a previously observed roan allele (RN1) disc...
Selection signatures and inbreeding: exploring genetic diversity in five native horse breeds. Horses have undergone extensive natural and artificial selection, shaping the diversity of breeds observed today. Native Italian breeds present unique traits influenced by natural selection, such as adaptation to harsh climates, or hoof strength, but face challenges due to population declines and the reduction of their original breeding purpose. This study focuses on five local Italian breeds: Bardigiano, Haflinger, Maremmano, Murgese, and Italian Heavy Draught Horse, to understand how selection has shaped their populations. A total of 1620 individuals were genotyped with a medium-density SNP ...
Investigating the interplay of stressors and health in horses through fecal cortisol metabolite analysis. Horses are highly sensitive to stress, which can affect their wellbeing and lead to various health issues. Effective and objective stress assessment is therefore crucial for improving their care and management. The production of the glucocorticoid cortisol is increased in response to stressful stimuli and its metabolites can be measured non-invasively in feces. Therefore, this study aimed to explore the impact of different environmental and physiological stressors on fecal cortisol metabolite (FCM) concentrations in horses, with a particular focus on the relationship between stress, health, an...
Three Novel KIT Polymorphisms Found in Horses with White Coat Color Phenotypes. This paper reports three novel KIT variants likely responsible for previously unexplained white patterning phenotypes observed in three groups of horses. White spots and markings may have substantial consequences on the value and health of domesticated horses. This study aims to elucidate the genetic mechanisms underlying depigmented coat colors to aid in producing prosperous herds. Aligned whole genome sequences were manually screened to identify three polymorphisms in a family of Anglo-Arabian horses (N = 7), a family of Warmblood horses (N = 5), and a single stock-type mare with unexplained...
Genetic characterization of phenotypic traits in endangered Taishu horse breed and their breeding strategy. The Taishu horse is a native Japanese breed threatened with extinction. It is important to genotype the causative genes of rare phenotypes in endangered breeds because unique genetic traits might be lost unless a breeding strategy for conservation is constructed. In the present study, nine single-nucleotide variants and three indels of nine genes related to coat color, body composition, and gait were genotyped in 56 Taishu horses. Of these, only three genes were polymorphic. The observed coat color phenotypes coincided with the estimated phenotype from the genotypes, whereas black horses showe...
Pedigree tracing to determine the origins of the modern Palomino Horse Breeders of America stock-type horse. Registration numbers for the Palomino Horse Breeders of America (PHBA) have risen with the assistance of new registration guidelines. These changes in guidelines allowed for registration of any horse with a palomino body color, including those with unknown pedigrees. While this promoted registry growth, documenting the breed's orgins from those known pedigrees making up the breed's foundation is important with the introduction of unknown pedigrees. This can be accomplished using pedigree tracing, which is of particular value for color registries as the study of coat color patterns is plagued w...
Equine intraocular melanocytic neoplasia. To describe the clinical appearance, histopathology, and treatment of equine intraocular melanocytic neoplasia in adult horses. Unassigned: A retrospective review of medical records was conducted. Data recorded included signalment, ocular examination findings, physical examination findings, therapeutic interventions, and case outcomes. Histopathologic characteristics of enucleated globes were evaluated. A Student's -test was used to evaluate differences in the interval from diagnosis to last known outcome between horses receiving therapeutic interventions and horses undergoing monitoring alone...
Survey of ocular abnormalities in a population of Turkmen horses. The aim of this study was to detect and describe ocular abnormalities in a population of Turkmen horses. Methods: A total of 55 Turkmen horses (33 mares and 22 stallions) from one herd were evaluated in this study. Methods: Demographic data (Age, Sex, Coat color) were recorded. All animals underwent complete ophthalmic examination. The Schirmer tear test -I (STT-I) was performed for all horses prior to other diagnostic tests. Neuro-ophthalmic examinations (menace response, dazzle reflex, pupillary light reflex, maze test, and visual tracking) were carried out in different lighting situations (...
An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses. The Greying with age phenotype in horses involves loss of hair pigmentation whereas skin pigmentation is not reduced, and a predisposition to melanoma. The causal mutation was initially reported as a duplication of a 4.6 kb intronic sequence in Syntaxin 17. The speed of greying varies considerably among Grey horses. Here we demonstrate the presence of two different Grey alleles, G2 carrying two tandem copies of the duplicated sequence and G3 carrying three. The latter is by far the most common allele, probably due to strong selection for the striking white phenotype. Our results reveal a rem...
Genetic diversity and signatures of selection in Icelandic horses and Exmoor ponies. The Icelandic horse and Exmoor pony are ancient, native breeds, adapted to harsh environmental conditions and they have both undergone severe historic bottlenecks. However, in modern days, the selection pressures on these breeds differ substantially. The aim of this study was to assess genetic diversity in both breeds through expected (HE) and observed heterozygosity (HO) and effective population size (Ne). Furthermore, we aimed to identify runs of homozygosity (ROH) to estimate and compare genomic inbreeding and signatures of selection in the breeds. Results: HO was estimated at 0.34 and 0.33...
Preliminary investigation of potential links between pigmentation variants and opioid analgesic effectiveness in horses during cerebrospinal fluid centesis. The pleiotropic effects of the melanocortin system show promise in overcoming limitations associated with large variations in opioid analgesic effectiveness observed in equine practice. Of particular interest is variation in the melanocortin-1-receptor (MC1R) gene, which dictates pigment type expression through its epistatic interaction with the agouti signalling protein (ASIP) gene. MC1R has previously been implicated in opioid efficacy in other species; however, this relationship is yet to be explored in horses. In this study, analgesic effectiveness was scored (1-3) based on noted response...
Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes. Variation in coat color among equids has attracted significant interest in genetics and breeding research. The range of colors is primarily determined by the type, concentration, and distribution of melanin pigments, with the balance between eumelanin and pheomelanin influenced by numerous genetic factors. Advances in genomic and sequencing technologies have enabled the identification of several candidate genes that influence coat color, thereby clarifying the genetic basis of these diverse phenotypes. In this review, we concisely categorize coat coloration in horses and donkeys, focusing on t...
Discrepancies between Genetic and Visual Coat Color Assignment in Sarcidano Horse. This study aimed to evaluate the discrepancies between genetic and visual coat color assignment in the Sarcidano Horse and to elucidate potential reasons. Individual DNA from 90 Sarcidano Horses was used for genetic assignment of coat color to explore the correspondence with individual forms containing phenotypical traits. The exon 1 and exon 3 have been genotyped and sequenced to obtain a picture of the coat color distribution in this breed. Surprisingly, once we compared the genetic results with the individual forms reporting the phenotypic data for each subject, a certain degree of non-co...
Population Analysis Identifies 15 Multi-Variant Dominant White Haplotypes in Horses. The influence of a horse's appearance on health, sentimental and monetary value has driven the desire to understand the etiology of coat color. White markings on the coat define inclusion for multiple horse breeds, but they may disqualify a horse from registration in other breeds. In domesticated horses (Equus caballus), 35 KIT alleles are associated with or cause depigmentation and white spotting. It is a common misconception among the general public that a horse can possess only two KIT variants. To correct this misconception, we used BEAGLE 5.4-phased NGS data to identify 15 haplotypes poss...
Spotting the Pattern: A Review on White Coat Color in the Domestic Horse. Traits such as shape, size, and color often influence the economic and sentimental value of a horse. Around the world, horses are bred and prized for the colors and markings that make their unique coat patterns stand out from the crowd. The underlying genetic mechanisms determining the color of a horse's coat can vary greatly in their complexity. For example, only two genetic markers are used to determine a horse's base coat color, whereas over 50 genetic variations have been discovered to cause white patterning in horses. Some of these white-causing mutations are benign and beautiful, while o...
Designing an early selection morphological traits index for reproductive efficiency in Pura Raza Española mares. The low rate of reproductive efficiency in horses may be linked to the equine industry's practice of maintaining breeding stock that stands out for its athletic or morphological performance but exhibits poor reproductive efficiency. In this study, the age at first foaling, age at last foaling, interval between first and second foaling, average interval between foaling, foaling number and reproductive efficiency, and their relationship with the morphological records in 19,758 Pura Raza Española (PRE) mares were analyzed. After a partial least squares analysis height at withers, lateral hock an...
Genome-wide search reveals the uniqueness of DNA regions associated with coat color and innate immunity in Hokkaido Native Horse. Hokkaido Native Horse (HKD) is a horse breed native to Hokkaido in Japan known for the traits such as coat color with no white spots and adaptability to the local cold climate. To examine whether those traits of HKD are conferred at the DNA level, we attempted to identify fixed DNA regions in HKD individuals, that is, the selection signatures of HKD. A comparison of genome-wide single nucleotide polymorphism genotypes in 58 HKD individuals by principal component analysis, and cluster analysis between breeds, including HKD, and within the HKD individuals indicated the genetic independence of HK...
Effects of dietary camelina, flaxseed, and canola oil supplementation on transepidermal water loss, skin and coat health parameters, and plasma prostaglandin E2, glycosaminoglycan, and nitric oxide concentrations in healthy adult horses. Camelina oil is derived from a low-input, high-yield crop and, in comparison to many other dietary fat sources currently used in equine diets, provides a greater amount of α-linolenic acid [ALA; (n-3)], than linoleic acid [LA; (n-6)]. However, no research exists assessing the effects of feeding camelina oil to horses in contrast to other commonly used oils. The objective of this study was to compare the effect of supplementing camelina oil to that of flaxseed and canola oil supplementation, on outcomes related to skin and coat health in horses. Thirty adult horses [23 mares, 7 geldings; 14.9 ...
Digital Phenotyping Reveals Phenotype Diversity and Epistasis among White Spotting Alleles in the American Paint Horse. White spotting is an iconic feature of the American Paint Horse. The American Paint Horse Association (APHA) is dedicated to recording pedigree and performance of this stock-type breed, while preserving its distinctive coat color and conformation. Here, the depigmented proportion of the coat (% white coat) was measured using digital photograph analysis of 1195 registered American Paint Horses. Genotypes for nine white-spotting polymorphisms commonly found in Paint Horses, and two pigment-producing loci and genes, were also provided by the APHA. White-coat percent significantly increased in h...
Phenotypic and Genetic Study of the Presence of Hair Whorls in Pura Raza Español Horses. Hair whorls are a hereditary feature in horses that may be associated with temperament and coat color. Hair whorls are described as changes in the hair pattern and may take various forms, such as circular and linear whorls. We first carried out a frequency analysis of hair whorls (circular and linear). Next, a Generalized Non-Linear Model was computed to assess the significance of some potential influencing factors, and a genetic parameter estimation was performed. ENDOG software v4.8 was used to estimate the inbreeding coefficient of all the animals analyzed. It was more common to find 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. ...