The leopard complex is a group of genetically related coat patterns in horses. These patterns range from progressive increases in interspersed white hair similar to graying or roan to distinctive, Dalmatian-like leopard spots on a white coat. Secondary characteristics associated with the leopard complex include a white sclera around the eye, striped hooves and mottled skin. The leopard complex gene is also linked to abnormalities in the eyes and vision. These patterns are most closely identified with the Appaloosa and Knabstrupper breeds, though its presence in breeds from Asia to western Europe has indicated that it is due to a very ancient mutation.
Coat patterns in the leopard complex range from being hardly distinguishable from an unaffected coat, to nearly pure white. Unlike most other spotting patterns, the spotting and especially the white regions associated with the leopard complex tend to be symmetrical and originate over the hips. [1] Furthermore, a certain amount of this inherited white patterning is present at birth. [2] The amount of white, even if none is present at birth, often grows throughout the horse's life by gradual "roaning" which is not related to graying or true roan. [2] Colored spots reflect the underlying coat color, be it black, chestnut, gray, or silver dun-buckskin. [3] A number of factors, each separately, genetically controlled, interact to produce familiar patterns such as "snowflake," "leopard," and "fewspot".
A single, incomplete dominant gene (Lp) controls the presence of leopard-spotting in horses. [4] [5] A dominant gene requires only a single copy to produce an affected phenotype; an incomplete dominant gene produces a different result depending on whether one or two copies are present. A horse's genotype may be lp/lp (homozygous recessive), Lp/lp (heterozygous), or Lp/Lp (homozygous dominant). Horses without a dominant Lp gene do not exhibit leopard-complex traits, and cannot produce offspring with the Lp gene unless it is contributed by the other parent. Such horses are termed "non-characteristic" among Appaloosa horse aficionados. [6] Horses with at least one Lp gene possess, at the very least, leopard-complex "characteristics":
The presence of regions of alternating pigmented and unpigmented skin may not definitively suggest the leopard gene. They may not be visible due to the effects of other genes. For example, extensive white markings on the face may mask the presence of mottling around the eyes and muzzle, and white markings on the legs often end in white hooves. Furthermore, other genes may produce similar conditions: white sclera are associated with broad white face markings, striped hooves with the Silver dapple gene, and freckled skin with the Champagne gene. A DNA test can now identify the Lp gene, though a combination of pedigree knowledge and coat characteristics also help.
While both heterozygous and homozygous Lp horses possess the aforementioned characteristics, heterozygotes and homozygotes differ significantly in the presence of true spots. True leopard spots are produced only by the Lp gene, and directly reflect the underlying coat color (bay, black, gray, cremello, red dun, and so on). [3] Since these spots match the coat color, they are not visible unless the surrounding pigment is removed. As a rule, heterozygous leopards have larger, more abundant spots, while homozygotes have smaller, scarcer spots. [5]
There is at least one genetically controlled type of white patterning that is strictly associated with the leopard complex. [2] These white patterns permit the spots associated with the leopard complex to become visible. Other white patterns, such as tobiano or white leg markings, obscure leopard spots. A certain amount of leopard-associated white patterning may be present at birth. Temporal changes in the amount of white patterning are discussed below. [7] Leopard-associated white patterning is usually symmetrical and originates over the hips. [1] A proposed gene, PATN-1, may be responsible for the most familiar expressions of white: heterozygotes possessing common-size "blankets" and homozygotes possessing extensive "blankets" that may affect the entire coat. [2] Even horses with extensive white usually retain dark colored regions just above the hooves, on the knees and hocks, stifles and elbows, hips and points of shoulder, the tail, mane, and the bony parts of the face. The smallest amount of white patterning is just a sprinkling of white over the hips.
Just as there is white patterning specifically associated with the leopard complex, there is a type of progressive roaning that is unrelated to graying out or true roan. [2] Horses with coat patterns within the leopard complex are known for their mystifying coat changes. [8] This unusual characteristic is due at least in part to leopard roaning, also called "varnish roaning." While the gray gene only affects the hair, some horses with the Lp gene will progressively lose pigment in both the skin and hair as they age. Also unlike graying out, the leopard spots are not affected by this roaning process. Neither are the "bony prominences" strongly affected. As a varnish roan horse lightens, the leopard spots indistinguishable from the rest of the coat become visible. Some horses without any dense white patterning at birth seem to spontaneously develop into white, leopard-spotted horses with maturity. [8] Varnishing is more common among Appaloosa horses, and less common among Norikers and Knabstruppers, whose breed associations find it undesirable. [5]
Like much of coat color genetics, commonly used terms do not necessarily correspond to precise genetic states. Nevertheless, terminology can reveal a lot about the genetic interactions surrounding the leopard complex.
Base colors are overlain by various spotting patterns, which are variable and often do not fit neatly into a specific category. These patterns are described as follows:
Pattern | Description | Image [9] |
Blanket or snowcap | A solid white area normally covering, but not limited to, the hip area, with a contrasting base color. [10] [11] | |
Spots | Generic term for a horse which has white or dark spots over all or a portion of its body. [10] | |
Blanket with spots | a white blanket which has dark spots within the white. The spots are usually the same color as the horse's base color. [10] | |
Leopard | Considered an extension of a blanket to cover the whole body. A white horse with dark spots that flow out over the entire body. [11] | |
Few Spot Leopard | A mostly white horse with a bit of color remaining around the flank, neck and head. [11] | |
Snowflake | A horse with white spots, flecks, on a dark body. Typically the white spots increase in number and size as the horse ages. [11] | |
Appaloosa Roan, Varnish roan or Marble | A distinct version of the leopard complex. Intermixed dark and light hairs with lighter colored area on the forehead, jowls and frontal bones of the face, over the back, loin and hips. Darker areas may appear along the edges of the frontal bones of the face as well and also on the legs, stifle, above the eye, point of the hip and behind the elbow. The dark points over bony areas are called "varnish marks" and distinguish this pattern from a traditional roan. [10] [11] | |
Mottled | A fewspot leopard that is completely white with only mottled skin showing. [11] | |
Roan Blanket or Frost | Horses with roaning over the croup and hips. The blanket normally occurs over, but is not limited to, the hip area. [10] [11] | |
Roan Blanket With Spots | refers to a horse with a roan blanket which has white and/or dark spots within the roan area. [10] |
Although the spotting and roaning patterns that make up the leopard complex sometimes appear very different from each other, the ability of leopard-spotted horses to produce the full spectrum of patterns, from mottled skin to roaning to more leopard-spotted offspring, has long suggested that a single gene was responsible. [5] This gene was termed Lp for "leopard complex" by Dr. D. Phillip Sponenberg in 1982, and was described as an autosomal, incomplete dominant gene. [4] Horses without the gene (lplp) were solid-colored, those with two copies of the gene (homozygous or LpLp) were usually "fewspots", while those with a single copy of the gene (heterozygous or Lplp) ranged from mere mottled skin to full leopard. [4]
In 2004, Lp was assigned to equine chromosome 1 (ECA1) by a team of researchers. [1] Four years later, this team mapped the Lp gene to a transient receptor potential channel gene, TRPM1 or Melastatin 1 (MLSN1). [7] The leopard complex allele contains a 1378 bp long terminal repeat insertion of retroviral DNA which disrupts transcription of TRMP1. [13]
In 2011, a study identified the Lp allele in DNA samples collected from prehistoric horses. This finding represents evidence for the presence of leopard complex spotting in prehistoric wild horse populations. The ancient origin of the allele may explain the presence of spotted horse paintings in paleolithic cave art. It is thought that during the ice age the leopard pattern may have been helpful as camouflage against the snowy environment. [12]
Congenital stationary night blindness is an ophthalmologic disorder in horses which is present at birth (congenital), non-progressive (stationary) and affects the animal's vision in conditions of low lighting. Horses with CSNB may be hesitant to enter dimly-lit places - such as indoor arenas, dark stalls, or trailers - and be apprehensive when in such conditions, which may interfere with handling or riding. [7] CSNB is usually diagnosed based on the owner's observations, but some horses have visibly abnormal eyes: poorly aligned eyes (dorsomedial strabismus) or involuntary eye movement (nystagmus). [7] The condition can be confirmed using electroretinography, from which a "negative ERG" indicates CSNB. While the retina is a normal shape, the nerve signal triggered when light reaches rod cells does not reach the brain. Rod cells in the retina are connected to bipolar cells, which transmit the nerve impulse to the next set of neurons. It is thought that these cells fail to undergo the basic chemical reaction for nerve impulse transmission, which involves shuttling of calcium (Ca2+).
Congenital stationary night blindness has been linked with the leopard complex since the 1970s. [14] The presence of CSNB in non-leopard breeds and horses suggested that the two conditions might be located on close, but separate genes. However, one study used ERG findings to diagnose all the homozygous Lp subjects with CSNB, while all heterozygotes and non-Lp horses were free from the disorder. [8] The gene to which Lp has now been localized encodes a protein that channels calcium ions, a key factor in the transmission of nerve impulses. This protein, which is found in the retina and the skin, existed in fractional percentages of the normal levels in homozygous Lp/Lp horses. [7] A 2008 study theorizes that both CSNB and leopard complex spotting patterns are linked to the TRPM1 gene. [15]
Equine Recurrent Uveitis (ERU) is also present in the breed. Appaloosas have an eightfold greater risk of developing Equine Recurrent Uveitis (ERU) than all other breeds combined. Up to 25% of all horses with ERU may be Appaloosas. Uveitis in horses has many causes, including eye trauma, disease, and bacterial, parasitic and viral infections, but ERU is characterized by recurring episodes of uveitis, rather than a single incident. If not treated, ERU can lead to blindness, which occurs more often in Appaloosas than in other breeds. [16] Up to 80% of all uveitis cases are found in Appaloosas, with physical characteristics including light colored coat patterns, little pigment around the eyelids and sparse hair in the mane and tail denoting more at-risk individuals. [17] Researchers may have identified a gene region containing an allele that makes the breed more susceptible to the disease. [18]
The Appaloosa horse is the breed best known for the leopard complex patterns, though the complex also characterizes the Knabstrupper, as well as breeds related to the Appaloosa such as the Pony of the Americas and Colorado Ranger. [2] The gene is also relatively common in the Falabella, the Noriker and the related South German Coldblood. [4] [8] The existence of leopard-spotted coats among Asian breeds such as the Karabair and Mongolian Altai has been recorded since ancient times, and suggests that the gene is very old. [8] Leopard complex patterns may exist in low frequencies among some other breeds, depending on whether horses with leopard complex genetics existed in the foundation bloodstock for a given breed.
The approximately 25,000-year-old paintings "Dappled Horses of Pech Merle" in a cave in France depict spotted horses with a leopard pattern. Archaeologists had debated over whether the artists were painting what they saw or whether the spotted horses had some symbolic meaning. However, a 2011 study of the DNA of ancient horses found that leopard complex was present, and therefore the cave painters most likely did see real spotted horses. [12]
The Appaloosa is an American horse breed best known for its colorful spotted coat pattern. There is a wide range of body types within the breed, stemming from the influence of multiple breeds of horses throughout its history. Each horse's color pattern is genetically the result of various spotting patterns overlaid on top of one of several recognized base coat colors. The color pattern of the Appaloosa is of interest to those who study equine coat color genetics, as it and several other physical characteristics are linked to the leopard complex mutation (LP). Appaloosas are prone to develop equine recurrent uveitis and congenital stationary night blindness; the latter has been linked to the leopard complex.
Roan is a coat color found in many animals, including horses, cattle, antelope, cat and dogs. It is defined generally as an even mixture of white and pigmented hairs that do not "gray out" or fade as the animal ages. There are a variety of genetic conditions which produce the colors described as "roan" in various species.
The American Paint Horse is a breed of horse that combines both the conformational characteristics of a western stock horse with a pinto spotting pattern of white and dark coat colors. Developed from a base of spotted horses with Quarter Horse and Thoroughbred bloodlines, the American Paint Horse Association (APHA) breed registry is now one of the largest in North America. The registry allows some non-spotted animals to be registered as "Solid Paint Bred" and considers the American Paint Horse to be a horse breed with distinct characteristics, not merely a color breed.
Lethal white syndrome (LWS), also called overo lethal white syndrome (OLWS), lethal white overo (LWO), and overo lethal white foal syndrome (OLWFS), is an autosomal genetic disorder most prevalent in the American Paint Horse. Affected foals are born after the full 11-month gestation and externally appear normal, though they have all-white or nearly all-white coats and blue eyes. However, internally, these foals have a nonfunctioning colon. Within a few hours, signs of colic appear; affected foals die within a few days. Because the death is often painful, such foals are often humanely euthanized once identified. The disease is particularly devastating because foals are born seemingly healthy after being carried to full term.
A piebald or pied animal is one that has a pattern of unpigmented spots (white) on a pigmented background of hair, feathers or scales. Thus a piebald black and white dog is a black dog with white spots. The animal's skin under the white background is not pigmented.
Bay is a hair coat color of horses, characterized by a reddish-brown or brown body color with a black point coloration of the mane, tail, ear edges, and lower legs. Bay is one of the most common coat colors in many horse breeds.
Nyctalopia, also called night-blindness, is a condition making it difficult or impossible to see in relatively low light. It is a symptom of several eye diseases. Night blindness may exist from birth, or be caused by injury or malnutrition. It can be described as insufficient adaptation to darkness.
A gray horse has a coat color characterized by progressive depigmentation of the colored hairs of the coat. Most gray horses have black skin and dark eyes; unlike some equine dilution genes and some other genes that lead to depigmentation, gray does not affect skin or eye color. Gray horses may be born any base color, depending on other color genes present. White hairs begin to appear at or shortly after birth and become progressively more prevalent as the horse ages as white hairs become intermingled with hairs of other colors. Graying can occur at different rates—very quickly on one horse and very slowly on another. As adults, most gray horses eventually become completely white, though some retain intermixed light and dark hairs.
Equine coat color genetics determine a horse's coat color. Many colors are possible, but all variations are produced by changes in only a few genes. The "base" colors of the horse are determined by the Extension locus, which in recessive form (e) creates a solid chestnut or "red" coat. When dominant (E), a horse is black. The next gene that strongly affects coat color, Agouti, when present on a horse dominant for E, limits the black color to the points, creating a shade known as Bay that is so common and dominant in horses that it is informally grouped as a "base" coat color.
A pinto horse has a coat color that consists of large patches of white and any other color. The distinction between "pinto" and "solid" can be tenuous, as so-called "solid" horses frequently have areas of white hair. Various cultures throughout history appear to have selectively bred for pinto patterns.
Horses exhibit a diverse array of coat colors and distinctive markings. A specialized vocabulary has evolved to describe them.
Varnish roan describes a horse with coloration similar to roan, but with some changes in color over the years, though not to the extreme of a gray. This type of roaning only occurs in conjunction with the Leopard complex. Varnish roans are born with a dark base coat color, usually with some spotting. As the horse ages, white hairs increase over most of the body, and many spotted markings blur or fade. The varnish roan pattern often appears to spread from the white of any original markings. This color pattern is best known in the Appaloosa breed of horse.
A white horse is born predominantly white and stays white throughout its life. A white horse has mostly pink skin under its hair coat, and may have brown, blue, or hazel eyes. "True white" horses, especially those that carry one of the dominant white (W) genes, are rare. Most horses that are commonly referred to as "white" are actually "gray" horses whose hair coats are completely white. Gray horses may be born of any color and their hairs gradually turn white as time goes by and take on a white appearance. Nearly all gray horses have dark skin, except under any white markings present at birth. Skin color is the most common method for an observer to distinguish between mature white and gray horses.
Black is a hair coat color of horses in which the entire hair coat is black. Black is a relatively uncommon coat color, and it is not uncommon to mistake dark chestnuts or bays for black.
Sabino describes a distinct pattern of white spotting in horses. In general, Sabino patterning is visually recognized by roaning or irregular edges of white markings, belly spots, white extending past the eyes or onto the chin, white above the knees or hocks, and "splash" or "lacy" marks anywhere on the body. Some sabinos have patches of roan patterning on part of the body, especially the barrel and flanks. Some sabinos may have a dark leg or two, but many have four white legs. Sabino patterns may range from slightly bold face or leg white markings—as little as white on the chin or lower lip—to horses that are fully white.
A leopard pattern is a spotted color pattern, particularly in the hair coat or skin of animals, but can also describe spotting patterns in plants and fabrics. When used as spotting patterns in fabrics, leopard pattern or print makes a great fashion statement in bold, unique and funny ways.
A cropout, crop-out or crop out is a horse with body spots, including pinto or leopard complex spotting, or "high white" horse markings, with a sire and dam who both appeared to have been solid-colored. There are several variations in the definition, depending on the breed registry involved. There are multiple genetic reasons that may cause a horse to be a cropout. Sometimes solid-colored horses throw cropouts because some spotting patterns are recessive genes that are not necessarily expressed unless the relevant allele is inherited from both parents. Other times a gene may be a dominant or incomplete dominant but so minimally expressed that the horse looks solid but can pass flashy color on to its offspring.
Dominant white (W) is a group of genetically related coat color alleles on the KIT gene of the horse, best known for producing an all-white coat, but also able to produce various forms of white spotting, as well as bold white markings. Prior to the discovery of the W alllelic series, many of these patterns were described by the term sabino, which is still used by some breed registries.
Roan is a horse coat color pattern characterized by an even mixture of colored and white hairs on the body, while the head and "points"—lower legs, mane, and tail—are mostly solid-colored. Horses with roan coats have white hairs evenly intermingled throughout any other color. The head, legs, mane, and tail have fewer scattered white hairs or none at all. The roan pattern is dominantly inherited, and is found in many horse breeds. While the specific mutation responsible for roan has not been exactly identified, a DNA test can determine zygosity for roan in several breeds. True roan is always present at birth, though it may be hard to see until after the foal coat sheds out. The coat may lighten or darken from winter to summer, but unlike the gray coat color, which also begins with intermixed white and colored hairs, roans do not become progressively lighter in color as they age. The silvering effect of mixed white and colored hairs can create coats that look bluish or pinkish.
The horse genome was first sequenced in 2006. The Horse Genome Project mapped 2.7 billion DNA base pairs, and released the full map in 2009. The horse genome is larger than the dog genome, but smaller than the human genome or the bovine genome. It encompasses 31 pairs of autosomes and one sex chromosome pair.
Based on these data, we conclude that a susceptibility allele for ERU in Appaloosas exists in the MHC region.