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.
Association between population structure and allele frequencies of the glycogen synthase 1 mutation in the Austrian Noriker draft horse. The aim of this study was to determine the allele frequency of the glycogen synthase 1 (GYS1) mutation associated with polysaccharide storage myopathy type 1 in the Austrian Noriker horse. Furthermore, we examined the influence of population substructures on the allele distribution. The study was based upon a comprehensive population sample (208 breeding stallions and 309 mares) and a complete cohort of unselected offspring from the year 2014 (1553 foals). The mean proportion of GYS1 carrier animals in the foal cohort was 33%, ranging from 15% to 50% according to population substructures based...
Length of winter coat in horses depending on husbandry conditions. This paper analyzes changes in the length of coat on selected body areas in horses and ponies kept under different husbandry (stable) conditions during the winter-spring period. The study included 12 Małpolski geldings and 12 geldings of Felin ponies aged 10-15 years. Horses were kept in two stables (six horses and six ponies in each stable). The type of performance, husbandry conditions and feeding of the studied animals were comparable. As of December 1, samples of hair coat from the scapula, sternum, back and abdomen areas of both body sides were collected seven times. The lengths of 20 ra...
Distribution of coat-color-associated alleles in the domestic horse population and Przewalski’s horse. Considering the hidden mode of inheritance of some coat-color-associated alleles, we investigated the presence/absence of coat-color-associated alleles in 1093 domestic horses of 55 breeds and 20 specimens of Przewalski's horse. For coat-color genotyping, allele specific PCR, pyrosequencing and Li-Cor analyses were conducted on 12 coat-color-associated alleles of five genes. Our data provide deep insight into the distribution of coat-color-associated alleles within breeds. We found that the alleles for the basic colorations (bay, black, and chestnut) are widely distributed and occur in nearly ...
Bayesian Inference of Natural Selection from Allele Frequency Time Series. The advent of accessible ancient DNA technology now allows the direct ascertainment of allele frequencies in ancestral populations, thereby enabling the use of allele frequency time series to detect and estimate natural selection. Such direct observations of allele frequency dynamics are expected to be more powerful than inferences made using patterns of linked neutral variation obtained from modern individuals. We developed a Bayesian method to make use of allele frequency time series data and infer the parameters of general diploid selection, along with allele age, in nonequilibrium populati...
The MC1R and ASIP Coat Color Loci May Impact Behavior in the Horse. Shared signaling pathways utilized by melanocytes and neurons result in pleiotropic traits of coat color and behavior in many mammalian species. For example, in humans polymorphisms at MC1R cause red hair, increased heat sensitivity, and lower pain tolerance. In deer mice, rats, and foxes, ASIP polymorphisms causing black coat color lead to more docile demeanors and reduced activity. Horse (Equus caballus) base coat color is primarily determined by polymorphisms at the Melanocortin-1 Receptor (MC1R) and Agouti Signaling Protein (ASIP) loci, creating a black, bay, or chestnut coat. Our goal was...
Promoting effects of an extended photoperiod treatment on the condition of hair coats and gonadal function in Thoroughbred weanlings. The effects of an extended photoperiod (EP) treatment (14.5 hr light, 9.5 hr dark) on Thoroughbred colts and fillies from December 25 at 7-9 months old to the following May at 12-14 months old on coat condition and gonadal functions were investigated. Coat condition was evaluated in April. The colts and fillies in the EP treatment group changed from winter to summer coats (molting of winter coats), whereas those in the control group did not. To determine the day of first ovulation, the plasma concentrations of progesterone were measured once a month in fillies. The day of first ovulation was a...
[Association of skin problems with coat colour and white markings in three-year-old horses of the Franches-Montagnes breed]. In the last 30 years the amount of white markings in the population of Franches-Montagnes horses (FM) has more than doubled which has led to some controversy, particularly in respect to the health of the horses. The objective of this study was to investigate if the coat colour and white markings have an impact on selected skin diseases and hoof horn abnormalities. To this purpose 974 three-year-old FM were subjected to a clinical examination during the field and station tests organized by the FM breeding association. In 16.9% of the horses, one or several equine sarcoids were detected, 15.2% o...
Genotyping and Coat Colour Detection of Ancient Horses from Buryatia. From genetic point of view, differences between ancient and modern horses can be reconstructed by using the phylogeographic analysis of mitochondrial genomes and by studying phenotypically important nuclear loci. The variety of modern horse coat colors resulted from artificial selection indicates a high degree of domestication. We have conducted the phylogenetic analysis of mitochondrial DNA extracted from bone samples of six ancient horses from Tsaramburial in the Republic of Buryatia, and established that they belong to a haplogroup E by Achilli’s classification. This haplogroup is found a...
Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses. Dun is a wild-type coat color in horses characterized by pigment dilution with a striking pattern of dark areas termed primitive markings. Here we show that pigment dilution in Dun horses is due to radially asymmetric deposition of pigment in the growing hair caused by localized expression of the T-box 3 (TBX3) transcription factor in hair follicles, which in turn determines the distribution of hair follicle melanocytes. Most domestic horses are non-dun, a more intensely pigmented phenotype caused by regulatory mutations impairing TBX3 expression in the hair follicle, resulting in a more circu...
Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting. Leopard complex spotting (LP), the result of an incompletely dominant mutation in TRPM1, produces a collection of unique depigmentation patterns in the horse. Although the LP mutation allows for expression of the various patterns, other loci are responsible for modification of the extent of white. Pedigree analysis of families segregating for high levels of patterning indicated a single dominant gene, named Pattern-1 (PATN1), as a major modifier of LP. Linkage analysis in two half-sibling families segregating for PATN1 identified a 15-Mb region on ECA3p that warranted further investigation. Wh...
Frequency of gray coat color in native Chinese horse breeds. Gray horses are born colored, and they then gradually lose their hair pigmentation. Tremendous progress has been made in identifying the genes responsible for graying with age in horses in recent years. Results show that gray coat color in horses is caused by a 4.6-kb duplication in intron 6 of the syntaxin 17 gene (STX17), which constitutes a cis-acting-regulatory mutation. However, little is known about the gray phenotype in native Chinese horses. This study was conducted to explore the frequency distribution of the gray mutation in native Chinese horse breeds. A total of 489 samples from 14...
Changes of coat cover in primitive horses living on a reserve. Changes in the coat cover are important for mammalian thermoregulation. This is especially true where variable environmental conditions exist throughout the seasons. Coat cover shedding is the replacement of old coat hair with new hair. The process differs in various equids. The aim of the study was to examine the changes in the coat of primitive Polish Konik horses living on a reserve in southeast Poland (50.6319° N). The reserve is located in a temperate climate. The mean temperature is below 0°C in winter (December 8 to March 9) and over 15°C in summer (June 8 to September 8). Five adult...
Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spotting phenotype in the donkey. 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...
A Novel Spectral Method for Inferring General Diploid Selection from Time Series Genetic Data. The increased availability of time series genetic variation data from experimental evolution studies and ancient DNA samples has created new opportunities to identify genomic regions under selective pressure and to estimate their associated fitness parameters. However, it is a challenging problem to compute the likelihood of non-neutral models for the population allele frequency dynamics, given the observed temporal DNA data. Here, we develop a novel spectral algorithm to analytically and efficiently integrate over all possible frequency trajectories between consecutive time points. This advan...
Twenty-five thousand years of fluctuating selection on leopard complex spotting and congenital night blindness in horses. 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...
A missense mutation in melanocortin 1 receptor is associated with the red coat colour in donkeys. 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...
Brainstem auditory evoked responses in an equine patient population: part I–adult horses. Brainstem auditory evoked response has been an underused diagnostic modality in horses as evidenced by few reports on the subject. Objective: To describe BAER findings, common clinical signs, and causes of hearing loss in adult horses. Methods: Study group, 76 horses; control group, 8 horses. Methods: Retrospective. BAER records from the Clinical Neurophysiology Laboratory were reviewed from the years of 1982 to 2013. Peak latencies, amplitudes, and interpeak intervals were measured when visible. Horses were grouped under disease categories. Descriptive statistics and a posthoc Bonferroni test...
Genetic parameters for chronic progressive lymphedema in Belgian Draught Horses. Genetic parameters for chronic progressive lymphedema (CPL)-associated traits in Belgian Draught Horses were estimated, using a multitrait animal model. Clinical scores of CPL in the four limbs/horse (CPLclin ), skinfold thickness and hair samples (hair diameter) were studied. Due to CPLclin uncertainty in younger horses (progressive CPL character), a restricted data set (D_3+) was formed, excluding records from horses under 3 years from the complete data set (D_full). Age, gender, coat colour and limb hair pigmentation were included as fixed, permanent environment and date of recording as ra...
Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses. Appaloosa horses are predisposed to equine recurrent uveitis (ERU), an immune-mediated disease characterized by recurring inflammation of the uveal tract in the eye, which is the leading cause of blindness in horses. Nine genetic markers from the ECA1 region responsible for the spotted coat color of Appaloosa horses, and 13 microsatellites spanning the equine major histocompatibility complex (ELA) on ECA20, were evaluated for association with ERU in a group of 53 Appaloosa ERU cases and 43 healthy Appaloosa controls. Three markers were significantly associated (corrected P-value <0.05): a SNP ...
Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses. 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...
Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL. 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 ...
Coat color genotypes and risk and severity of melanoma in gray quarter horses. Both graying and melanoma formation in horses have recently been linked to a duplication in the STX17 gene. This duplication, as well as a mutation in the ASIP gene that increases MC1R pathway signaling, affects melanoma risk and severity in gray horses. Objective: To determine if melanoma susceptibility in gray Quarter Horses (QH) is lower than gray horses from other breeds because of decreased MC1R signaling resulting from a high incidence of the MC1R chestnut coat color allele in the QH population. Methods: A total of 335 gray QH with and without dermal melanomas. Methods: Blood or hair roo...
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes. Variants in the EDNRB, KIT, MITF, PAX3 and TRPM1 genes are known to cause white spotting phenotypes in horses, which can range from the common white markings up to completely white horses. In this study, we investigated these candidate genes in 169 horses with white spotting phenotypes not explained by the previously described variants. We identified a novel missense variant, PAX3:p.Pro32Arg, in Appaloosa horses with a splashed white phenotype in addition to their leopard complex spotting patterns. We also found three novel variants in the KIT gene. The splice site variant c.1346+1G>A occur...
Genetic diversity and conservation in a small endangered horse population. The Old Kladruber horses arose in the 17th century as a breed used for ceremonial purposes. Currently, grey and black coat colour varieties exist as two sub-populations with different recent breeding history. As the population underwent historical bottlenecks and intensive inbreeding, loss of genetic variation is considered as the major threat. Therefore, genetic diversity in neutral and non-neutral molecular markers was examined in the current nucleus population. Fifty microsatellites, 13 single nucleotide polymorphisms (SNPs) in immunity-related genes, three mutations in coat colour genes an...
[Clinical evaluation of the new coat colour macchiato in a male Franches-Montagnes horse]. In April 2008 a Franches-Montagnes colt was born with an unusual coat colour phenotype which had never been observed in that population before. The foal showed extended white markings on body and legs, a white head and blue eyes. As both parents have an unremarkable bay coat colour phenotype, a de novo mutation was expected in the offspring and a candidate gene approach revealed a spontaneous mutation in the microphthalmia associated transcription factor gene (MITF). A detailed clinical examination in 2010 indicated an impaired hearing capacity. As in the American Paint Horse large white facia...
Complex inheritance of melanoma and pigmentation of coat and skin in Grey horses. The dominant phenotype of greying with age in horses, caused by a 4.6-kb duplication in intron 6 of STX17, is associated with a high incidence of melanoma and vitiligo-like skin depigmentation. However, the progressive greying and the incidence of melanoma, vitiligo-like depigmentation, and amount of speckling in these horses do not follow a simple inheritance pattern. To understand their inheritance, we analysed the melanoma grade, grey level, vitiligo grade, and speckling grade of 1,119 Grey horses (7,146 measurements) measured in six countries over a 9-year period. We estimated narrow sense...
Ultrasonographic features of PMEL17 (Silver) mutant gene-associated multiple congenital ocular anomalies (MCOA) in Comtois and Rocky Mountain horses. (1) To describe the ultrasonographic appearance of multiple congenital ocular anomalies (MCOA) in the eyes of horses with the PMEL17 (Silver) mutant gene. (2) To compare the accuracy of B-mode ocular ultrasound to conventional direct ophthalmoscopy. Methods: Sixty-seven Comtois and 18 Rocky Mountain horses were included in the study. Methods: Horses were classified as being carriers or noncarriers of the PMEL17 mutant allele based on coat color or genetic testing. Direct ophthalmoscopy followed by standardized ultrasonographic examination was performed in all horses. Results: Seventy-five of 8...
Risk factors for insect bite hypersensitivity in Friesian horses and Shetland ponies in The Netherlands. Insect bite hypersensitivity (IBH) is an equine skin allergy caused by bites of Culicoides spp. and impacts on the welfare of affected horses. The aim of this study was to identify and quantify risk factors for IBH. Data from 3453 Friesian horse mares and 7074 Shetland pony mares scored for IBH by inspectors during obligatory foal inspections were analysed using breed-specific multivariable logistic regression models. The combined effect of month and year of scoring, Province and inspector were significantly associated with IBH in both breeds. In Shetland pony mares, withers height and coat co...
Mutations in MITF and PAX3 cause “splashed white” and other white spotting phenotypes in horses. During fetal development neural-crest-derived melanoblasts migrate across the entire body surface and differentiate into melanocytes, the pigment-producing cells. Alterations in this precisely regulated process can lead to white spotting patterns. White spotting patterns in horses are a complex trait with a large phenotypic variance ranging from minimal white markings up to completely white horses. The "splashed white" pattern is primarily characterized by an extremely large blaze, often accompanied by extended white markings at the distal limbs and blue eyes. Some, but not all, splashed white...
A simplified PCR-based method for detection of gray coat color allele in horse. Coat color of gray horses is associated with a 4.6-kb duplication, which can be determined using PCR amplification of about 5-kb DNA fragment. In practice, this means that amplification might fail frequently. Therefore, a novel genetic screening method based on amplification of the 246 bp DNA fragment has been developed.