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The Genetics of Spots

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The Genetics of Spots Lp and PATN - the genetics of spots A Leopard Complex spotting (Lp), the result of an incompletely dominant mutation in TRPM1, produces a collection of unique pigmentation patterns in several breeds of horse. While the Lp mutation allows for expression of the various patterns, other loci are responsible for modification of the extent of patterning. Pedigree analysis of families segregating for high levels of patterning (80-100% white hair coat) indicated R a single dominant gene (PATN1) as a major effect modifier for Lp. Lp is the gene that switches on or gives the Appaloosa its visual characteristics, of which there are 4: • white sclera in the eye T • mottled skin • striped feet • varnish or Lp Roan which is not to be confused with Classic Roan I Lp is incompletely dominant. Two recessive copies (lplp) gives you a solid or non spotty horse. With one dominant copy and one recessive (heterozygous or Lp/lp) you will get polka dots in the coat. And with 2 dominant copies you will get a horse with no or very few dots in their white pattern. These are called C snowcaps when there is only a white area on the rump/torso, and fewspots or near fewspots where there's white on over 80% of the horse's body. The second part of the spotted ‘coat colour’ equation are the pattern genes, dubbed PATN for short. These L are inherited separately to Lp and are responsible for creating the areas of solid white patterning. This patterning appears to be a polygenic or ‘many gene’ trait in that the extent of patterning varies according to which of the PATN genes, and how many, the horse has - some types of PATN appear to produce large E amounts of patterning whilst others only produce minimal amounts. The type that produces the most white is referred to as PATN1. Lp and PATN are inherited separately so a horse can inherit PATN on its own, Lp on its own, or both Lp and PATN together. A horse that carries Lp on its own may exhibit any or all of the Leopard complex characteristics but will not have the areas of solid white patterning because it doesn’t carry any of the PATN genes. A horse that has inherited both Lp and one or more of the PATN genes displays some amount of white patterning at birth, the extent of which is controlled by which, and how many, of the PATN genes it carries. If only PATN genes are inherited (no Lp) the horse will present as a solid coloured horse because Lp is the gene that "lights up" the appaloosa patterns ie PATN requires Lp to become visible - no Lp = no visible spots, no white patterning and no characteristics. However, if this horse is put to a horse that carries Lp and no PATN and the resulting offspring inherits both Lp and PATN it will display coat patterns not seen in either parent. If only Lp is inherited the horse may present with any or all of the visual characteristics listed above. The most visible version of Lp is varnish - the photos on the right clearly show the varnish effects of Lp on this mare who was born solid but is now completely var- nished out as an adult. She has pretty much all the characteristic darker areas remaining at bony points (on the face, usually in a distinct V on the bridge of the nose; on the cheeks, point of shoulder, el- bows, knees, point of hips, hock). She also has a few leopard spots which have become visible as she varnished out. It is thought that there are dif- ferences between homozygous and heterozygous Lp horses relating to how quickly they varnish out and so on but I don’t know if this has been proven as yet. This mare is heterozygous for Lp as her dam is a Thoroughbred. A horse that inherits both Lp and PATN will exhibit not only the various visual characteristics of Lp but will also have white coat patterns. The size of these patterns will vary according to which PATN genes it has; they can range from just a sprinkling of white over the hips (snowflake) to the extensive white, referred to as PATN1 (or leopard pattern), seen in the leopard and fewspot. The expression of PATN in conjunction with 2 copies of Lp (homozygous Lp so Lp/Lp PATN#/__) can be anywhere from 50% - 100% which creates the snowcap (blanket with no spots inside the blanket) and fewspot coat patterns. These horses will always pass on one copy of Lp to their offspring. The fewspot is the maximum expression of Lp and PATN; it creates a pure white horse that has a few base coloured spots in the coat, generally on the flank, elbow, neck and head. They can also display varnish marks. The genetics of a fewspot is believed to be Lp/Lp PATN1/? ie homozygous Lp with at least one copy of the all over body white version of PATN - PATN1. Fewspot Kaleidoscope (Vol 55 - Page 23) The other homozygous Lp pattern is the snowcap. The snowcap differs Snowcap with from the normal blanket pattern in that the blanket does not have spots or varnish colour within its extent courtesy of the 2 copies of Lp. The blanket can vary in size and can extend across most of the body with the base colour being retained on head, legs, flanks and elbows. The snowcap probably carries another version of PATN which restricts the white patterning to a blanket - Lp/Lp PATN/?) rather than the all over body white PATN1. The Leopard is the other pattern that carries PATN1 or all over body white but instead of being homozygous for Lp, they are heterozygous (Lp/lp PATN1/?). The single copy of Lp allows a greater expres- sion of colour or ‘spots’ which are often also larger than those seen on a fewspot. A leopard is basically a white horse with dark spots in its base colour that cover the entire body. A variation of the leopard is the Near Leopard, a pattern that exhibits extensive leopard type spotting over most of the body but retains some solid colouring (var- nish marks) on the knees, chest, flanks, underside of the neck and cheeks as illus- trated by these two palouse ponies. The popular Blanket pattern has a white blanket with dark spots within the white. The spots are the same colour as the horse's base colour. The blanket can range from just a small area over the hips to one that covers most of the back from the with- ers back. A horse with a spotted blanket pattern is heterozygous for Lp and carries Larger blanket the same type of PATN as the snowcap ie expression may the version that restricts the white pattern be due to the red to an area on the back, hips and rump (Lp/ base of the palo- lp PATN/?) Small blanket mino colour. The Snowflake pattern is white spotting and/or flecking on a dark body, as though the horse has been stand- ing out in the snow collecting snow flakes over its back and sides. In most cases the white spots increase in number and size as the horse ages. The snowflakes can lie just across the topline or may extend over the whole body. Snowflake can also occur in conjunction with other patterns on the same horse. Again, the snowflake will be het- erozygous for Lp and probably carries yet another version of PATN which produces minimal white patterning (Lp/lp PATN?/ ?) Frosting, whilst used by some to describe a horse with extensive roaning or white hairs scattered over the back and hips where the roaning is not as extensive as that seen in the Varnish, is considered by many others to be a term describing the early stages of Varnish. If the concentration of white hairs is particularly heavy over the rump the term ‘frosted blanket’ may be used. Many thanks to some of our BCD owners for the use of these photos in this article. It was great to be able to use photos of horses that we have registered with us to illustrate some of the many and varied coat patterns that make up this most colourful equine. Page 24 - Kaleidoscope (Vol 55) Courtesy of Sheila Archer from the Appaloosa Project. This diagram shows the full spectrum of patterning observed in Appaloosas. The horses in the upper row have coat patterns that indicate they are are heterozygous for LP, and therefore are not affected by CSNB. Note that they have white patterning with moderate to plentiful dark spotting. The lower row of this diagram shows Appaloosas with coat patterns that indicate they are homozygous for LP, and therefore affected by CSNB. Unlike the upper row horses, these have white patterning with few or no dark spots. More interesting stuff about Lp and PATN.... PATN can also be suppressed even when carried with LP and this appears to happen more commonly in mares for some reason. Sometimes the only way of knowing that a mare carries PATN1 is when she produces a leopard or fewspot to a blanket stallion. Owners have also noted that testosterone levels can influence pattern expression - again, not sure if this is proven or just general observations. Then there are the striped hooves. Not all appaloosas have striped hooves. Some have solid amber colored hooves. Usually, but not always, the amber colored hooves are seen on horses that are homozygous for the leopard complex gene, or LpLp.
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