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.
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...
Do You Think I Am Living Well? A Four-Season Hair Cortisol Analysis on Leisure Horses in Different Housing and Management Conditions. The satisfaction of leisure horses' behavioral needs has begun to be considered a priority, linked to the awareness that horses kept in single boxes may be deprived of social contact and the possibility to perform natural behaviors. Several factors may influence horses' quality of life also in the paddock, and there are very few data on the effects of those variables on leisure horses' chronic stress, measurable in terms of activation of the hypothalamic-pituitary-adrenocortical axis. Therefore, managerial choices faced by owners and stables managers are only based on experience, common sense,...
Two Variants of KIT Causing White Patterning in Stock-Type Horses. Over 30 polymorphisms in the KIT Proto-Oncogene Receptor Tyrosine Kinase (KIT) gene have been implicated in white spotting patterns ranging from small areas to full dermal depigmentation in the horse. We performed a candidate-gene exon sequencing approach on KIT and MITF, 2 known causatives of white spotting patterns, within 2 families of horses of unknown white spotting. Family 1 (Fam1, N = 5) consisted of a Quarter Horse stallion and 4 offspring with white spotting pattern ranging from legs, lower ventral, and head regions with jagged borders, to almost complete white. The second family (Fam...
Influence of coat color on genetic parameter estimates in horses. The aim of this study was to verify the effect of the inclusion of coat color on the genetic parameter estimation for linear measurements in Campolina horses. Two models (1 and 2) were applied. For model 1, coat color effect was not included as variable of the contemporary group formation; in model 2, it was included. Model 2 presented the best fitting with a Deviance Information Criterion (DIC) of -979,459.020 compared with -1,818,458.572 DIC from model 1. The average of heritability estimates ranged from low to high magnitude (0.15 to 0.53) for model 1 and from moderate to high magnitude for...
Primary sinonasal malignant melanoma with systemic metastasis in a non-gray horse. A 27-y-old Anglo-Arabian gelding with bay coat color was presented with a swelling of the left maxillary region. Fenestration on the left maxilla revealed that the left maxillary sinus was filled with black-red tissue. A portion of the tissue was excised and diagnosed histologically as malignant melanoma. Genotyping of the STX17 gene for gray coat color revealed that the horse did not have the "gray" factor. The horse was euthanized ~3 mo after first presentation. During autopsy, a black-to-gray mass extended from the left nasal cavity to the surrounding paranasal sinus and invaded the hard ...
Inconsistencies in horse coat color registration: A case study. Grullo is a dun dilution on a black coat that is common in the Campolina horse: an autochthonous Brazilian breed. The aims of this case study were to evaluate inconsistencies in grullo coat color registration and to explain their possible causes. A total of 3,270 grullo Campolina horses were evaluated. To confirm the genetic possibility of having grullo animals, the coat color genotypes of parents were inferred by phenotype and compared with those of progeny. A total of 242 horses that were registered as grullos could not have this coat based on their parents' information. Possible explanation...
Genetic characterization of Kushum horses in Kazakhstan based on haplotypes of mtDNA and Y chromosome, and genes associated with important traits of the horses. The Kushum is a relatively new breed of horses in Kazakhstan that was established in the middle of the 20th century through a cross between mares of Kazakhstan local horses and stallions of Thoroughbred, Trotter, and Russian Don breeds to supply military horses. To reveal the genetic characteristics of this breed, we investigated haplotypes of mitochondrial DNA (mtDNA) and single-nucleotide polymorphisms of the Y chromosome, as well as genotypes of five functional genes associated with coat color, body composition, and locomotion traits. We detected 10 mtDNA haplotypes that fell into 8 of the ...
Survey of Risk Factors and Genetic Characterization of Ewe Neck in a World Population of Pura Raza Español Horses. Ewe Neck is a relatively common morphological defect in Pura Raza Español (PRE) horses and other Baroque type horse breeds, which adversely affects the breeding industry; (1) objectives: to establish the within-breed prevalence, possible associated factors, and heritability of Ewe Neck in PRE horses; (2) methods: the database included evaluations of 35,267 PRE horses. The Ewe Neck defect, 16 morphological traits, and 4 body indices were recorded. A Bayesian genetic animal model included the following systematic effects: sex, age, coat color, geographical area of the stud, and birth stud size ...
Hair follicle regional specificity in different parts of bay Mongolian horse by histology and transcriptional profiling. 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,...
Impact of white-spotting alleles, including W20, on phenotype in the American Paint Horse. The American Paint Horse Association (APHA) records pedigree and performance information for their breed, a stock-type horse valued as a working farm or ranch horse and as a pleasure horse. As the name implies, the breed is also valued for its attractive white-spotting patterns on the coat. The APHA utilizes visual inspections of photographs to determine if coat spotting exceeds threshold anatomical landmarks considered characteristic of desirable patterns. Horses with sufficient white patterning enter the 'Regular' registry, rather than the 'Solid Paint-Bred' division, providing a threshold m...
The metabolic profile of Asinara (albino) and Sardo donkeys (pigmented) (Equus asinus L., 1758) points to unequivocal breed assignment of individuals. This study pointed to explore if variations in circulating levels of metabolites in the blood stream of no. 25 feral donkeys occur in view of the different coat color between specimens of Asinara (albino, no. 8) vs. Sardo (dun-grey, no. 17) breed. All individuals involved in this investigation are living in the nature, at Mediterranean latitudes and roam in the same areas all over the National Park of Capo Caccia, where they feed on spontaneous vegetation sources. The study was conducted during the positive photoperiod of the boreal hemisphere (peak in the month of June, 2019) to maximize the ...
Coat Color Roan Shows Association with KIT Variants and No Evidence of Lethality in Icelandic Horses. Roan (Rn) horses show a typical seasonal change of color. Their body is covered with colored and white hair. We performed a descriptive statistical analysis of breeding records of Icelandic horses to challenge the hypothesis of roan being lethal in utero under homozygous condition. The roan to non-roan ratio of foals from roan × roan matings revealed homozygous roan Icelandic horses to be viable. Even though roan is known to be inherited in a dominant mode and epistatic to other coat colors, the causative mutation is still unknown. Nevertheless, an association between roan phenotype and the K...
An Independent Locus Upstream of ASIP Controls Variation in the Shade of the Bay Coat Colour in Horses. Novel coat colour phenotypes often emerge during domestication, and there is strong evidence of genetic selection for the two main genes that control base coat colour in horses- and . These genes direct the type of pigment produced, red pheomelanin () or black eumelanin (), as well as the relative concentration and the temporal-spatial distribution of melanin pigment deposits in the skin and hair coat. Here, we describe a genome-wide association study (GWAS) to identify novel genic regions involved in the determination of the shade of bay. In total, 126 horses from five different breeds were r...
Author Correction: Spotted phenotypes in horses lost attractiveness in the Middle Ages. An amendment to this paper has been published and can be accessed via a link at the top of the paper.
A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse. Splashed white is a coat color pattern in horses characterized by extensive white patterning on the legs, belly, and face often accompanied by blue eyes and deafness. Three mutations in microphthalmia-associated transcription factor (MITF) and two mutations in Paired Box 3 (PAX3) have been identified that explain splashed white patterns (SW1-SW5). An American Paint Horse stallion with a splashed white phenotype and blue eyes, whose parents were not white patterned, was negative for the 5 known splashed white variants and other known white spotting alleles. This novel splashed white phenotype (...
Risk factors for equine recurrent uveitis in a population of Appaloosa horses in western Canada. To characterize clinical manifestations, measure frequency, and evaluate risk factors for equine recurrent uveitis (ERU) in Appaloosa horses in western Canada. Methods: 145 Appaloosa horses. Methods: Ophthalmic examinations were completed and eyes were classified as having no or mild clinical signs, or moderate, or severe damage from ERU. Clinical signs, age, sex, base coat color, and pattern were recorded. Whole blood and/or mane hair follicles were collected for DNA extraction, and all horses were tested for the leopard complex (LP) spotting pattern allele. Pedigree analysis was completed on...
A Genome-Wide Association Analysis in Noriker Horses Identifies a SNP Associated With Roan Coat Color. The roan coat color in horses is characterized by dispersed white hair and dark points. This phenotype segregates in a broad range of horse breeds, while the underlying genetic background is still unknown. Previous studies mapped the roan locus to the KIT gene on equine chromosome 3 (ECA3). However, this association could not be validated across different horse breeds. Performing a genome-wide association analysis (GWAS) in Noriker horses, we identified a single nucleotide polymorphism (SNP) (ECA3:g.79,543.439 A > G) in the intron 17 of the KIT gene. The G -allele of the top associated SNP...
Seroepidemiological study of the exposure to Toxoplasma gondii among horses in Algeria and analysis of risk factors. The aim of this study was to assess the seroprevalence of the in horses in different parts of Algeria and to determine risk factors for the infection. Methods: A total of 736 blood samples were collected from horses of various breeds, gender, coat colors, and ages. All horses came from various farms, racecourses, and equestrian centers. The seroprevalence was investigated by three different methods: Indirect fluorescent antibody test (IFAT) as reference method, enzyme-linked immunosorbent assay (ELISA), and latex agglutination test (LAT). Results: Out of the 736 sera, 178 (24.18%) were positi...
Genetic investigation of equine recurrent uveitis in Appaloosa horses. Equine recurrent uveitis (ERU) is characterized by intraocular inflammation that often leads to blindness in horses. Appaloosas are more likely than any other breed to develop insidious ERU, distinguished by low-grade chronic intraocular inflammation, suggesting a genetic predisposition. Appaloosas are known for their white coat spotting patterns caused by the leopard complex spotting allele (LP) and the modifier PATN1. A marker linked to LP on ECA1 and markers near MHC on ECA20 were previously associated with increased ERU risk. This study aims to further investigate these loci and identify a...
Effects of hair coat characteristics on radiant surface temperature in horses. Horse owners may lack knowledge about natural thermoregulation mechanisms in horses. Horses are managed intensively; usually stabled at night and turned out during the day. Some are clipped and many wear a blanket, practices which reduce the horse's ability to regulate heat dissipation. The aim of this study was to investigate the relationship between hair coat characteristics, body condition and infrared surface temperatures from different body parts of horses. Under standard conditions, the body surface temperature of 21 adult horses were investigated using infrared thermography. From severa...
Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies. Mushroom is a unique coat color phenotype in Shetland Ponies characterized by the dilution of the chestnut coat color to a sepia tone and is hypothesized to be a recessive trait. A genome wide association study (GWAS), utilizing the Affymetrix 670K array (MNEc670k) and a single locus mixed linear model analysis (EMMAX), identified a locus on ECA7 for further investigation ( = 2.08 × 10). This locus contained a 3 Mb run of homozygosity in the 12 mushroom ponies tested. Analysis of high throughput Illumina sequencing data from one mushroom Shetland pony compared to 87 genomes from horses of var...
A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype. White spotting phenotypes in horses may be caused by developmental alterations impairing melanoblast differentiation, survival, migration and/or proliferation. Candidate genes for white-spotting phenotypes in horses include EDNRB, KIT, MITF, PAX3 and TRPM1. We investigated a German Riding Pony with a sabino-like phenotype involving extensive white spots on the body together with large white markings on the head and almost completely white legs. We obtained whole genome sequence data from this horse. The analysis revealed a heterozygous 1273-bp deletion spanning parts of intron 2 and exon 3 of ...
Correction: Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses. [This corrects the article DOI: 10.1371/journal.pgen.1002653.].
Genetic parameters estimation in an Italian horse native breed to support the conversion from agricultural uses to riding purposes. Horses are nowadays mainly used for sport and leisure purposes, and several local breeds, traditionally used in agriculture, are exposed to the risk of extinction. The long-term survival of local horse breeds depends on strategies to both monitor their genetic diversity and to find their sustainable role in the equine market. Thus, several local horse breeds need to adapt their breeding objective to allow a modernization process. The Bardigiano is an example of such horse breeds; we, therefore, studied the existing evaluation protocol from a genetic standpoint to assess the protocol's suitabil...
Treatment Options for Melanoma of Gray Horses. All gray horses inherited a single gene mutation, STX17G, that unbalances melanocyte behavior to cause graying and propensities to develop vitiligo and melanoma. The coat color genes ASIPa and MC1RE add risk such that relative likelihood of melanoma based on pregraying coat color is black > bay > chestnut. Melanomas begin at about 4 years. Locoregional control of melanoma masses depends on surgical removal and/or intralesional chemotherapy (possibly with adjunctive hyperthermia or electroporation). Systemic treatment is not evidence based but immunomodulators (cimetidine, levamisole) and ...
Analysis of ROH patterns in the Noriker horse breed reveals signatures of selection for coat color and body size. Overlapping runs of homozygosity (ROH islands) shared by the majority of a population are hypothesized to be the result of selection around a target locus. In this study we investigated the impact of selection for coat color within the Noriker horse on autozygosity and ROH patterns. We analyzed overlapping homozygous regions (ROH islands) for gene content in fragments shared by more than 50% of horses. Long-term assortative mating of chestnut horses and the small effective population size of leopard spotted and tobiano horses resulted in higher mean genome-wide ROH coverage (S ) within the ran...
Sex and Age Don’t Matter, but Breed Type Does-Factors Influencing Eye Wrinkle Expression in Horses. Identifying valid indicators to assess animals' emotional states is a critical objective of animal welfare science. In horses, eye wrinkles above the eyeball have been shown to be affected by pain and other emotional states. From other species we know that individual characteristics, e.g., age in humans, affect facial wrinkles, but it has not yet been investigated whether eye wrinkle expression in horses is systematically affected by such characteristics. Therefore, the aim of this study was to assess how age, sex, breed type, body condition, and coat colour affect the expression and/or the as...