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PAINT HORSE JOURNAL ◆ MARCH 2003 Byahair0304b 2/12/04 10:51 AM Page 145 ByAHair0304B 2/12/04 10:51 AM Page 144 By REBECCA OVERTON 144 ◆ PAINT HORSE JOURNAL ◆ MARCH 2003 ByAHair0304B 2/12/04 10:51 AM Page 145 Consider a hair. If it gets in your eye, you want it out. If it lands on your clothes, you want it off. Each year, balding men spend millions of dollars in the hope of re- plenishing the diminishing supply on their heads. To a Paint Horse breeder, a hair can A simple DNA test using mean the difference between holding your breath for 11 months to see if a foal will be born with Overo Lethal White Syndrome (OLWS), or know- mane or tail hair samples can ing you made a genetic cross that en- sures you won’t get a foal with the dreaded disease. Using hair samples from a horse’s mane or tail, geneticists at the Uni- help Paint Horse breeders avoid versity of California–Davis can deter- mine if a horse is at risk for producing lethal white foals. The test reveals whether a horse carries the mutation associated with lethal white syndrome the heartbreak of producing by looking at DNA extracted from a hair follicle. Offered by the Veterinary Genet- ics Lab at the UC Davis School of Veterinary Medicine, the test costs lethal white foals. $50 and can be ordered by com- pleting a form and returning it to the lab. The test requires 25–30 samples of hair, which must be pulled, not cut, so that the roots are intact. A horse Genetics Lab. Penedo has worked at Although the foal may at first ap- needs to be tested only once. Results UC Davis as a geneticist since 1982. pear to be normal, it usually begins ex- are confidential and available within “The risk of producing a lethal hibiting signs of colic within 12 hours two to three weeks. white comes when people breed two of birth because of a non-functioning The test was developed by Dr. horses that carry the overo lethal white colon, similar to Hirschsprung disease Danika Bannasch while Bannasch was gene,” she explained. “By using the in humans. Because surgery is not suc- conducting post-doctoral research on test, horse owners can determine if cessful, OLWS is always fatal, so foals canine and equine genetics. The uni- white-spotted horses that are predom- are often euthanized shortly after versity began offering the test to the inantly overo carry the mutation re- birth. public in 1998. sponsible for lethal white syndrome.” The affliction occurs more often in During the last five years, the ge- breeds such as Paint and Quarter netics lab has conducted 4,000 to It’s a mystery Horses that have white in their coats. 5,000 tests, a number that researchers The curse of Paint Horse breeders, It rarely occurs in Thoroughbreds. there say is surprising. lethal white syndrome is one of the The disease is most often associated “That is a relatively small number most heartbreaking conditions to af- with horses that have an overo spot- of horses tested when you compare it flict spotted horses. Also known as ting pattern. Overo includes three pri- with the large number of horses reg- congenital intestinal aganglionosis, mary patterns—frame overo, sabino istered,” said Dr. Cecilia Penedo, as- the disease occurs in Paint Horses that and splashed white—that are geneti- sociate director of the Veterinary are all, or predominantly all, white. cally different. PAINT HORSE JOURNAL ◆ MARCH 2004 ◆ 145 ByAHair0304B 2/12/04 10:51 AM Page 146 Frame overo horses are character- ized by white patches centered in the neck and body that are framed by col- ored areas. Research indicates that frame overo horses are most likely to produce lethal whites. The mutation associated with OLWS also has been found in horses that have the sabino and splashed white patterns. The sabino pattern can range from being mini- mally expressed in a horse that has one or more white legs and a blaze to horses that are almost or com- pletely white. Most sabinos that are largely white are quite roaned and speckled. In the splashed white pattern, a horse’s legs and the bottom parts of its body are usually white, which makes the horse look like it has been dipped in white paint. Its head is often white and its eyes are frequently blue. However, seeing is not always be- lieving when it comes to the complex world of genetics. Although it has been shown that frame overos can produce lethal white foals, the disease can also occur in tobianos and solid- colored Paint and Quarter Horses that carry the OLWS gene. For decades, Paint Horse owners sought a reliable, scientific way to identify the deadly characteristic. When none could be found, many ac- cepted the risk of getting a lethal white foal as the cost of breeding Paints. Then, in 1997, three independent research groups made a significant discovery. Geneticists at the Univer- sity of Minnesota, the University of California and at a hospital in Aus- tralia located the DNA mutation and gene associated with OLWS. The Minnesota research was funded by a grant from the American Paint Horse Association. By analyzing the DNA sequence of the gene in affected foals and their parents, scientists determined that lethal white foals have two copies of the gene responsible for APHA PHOTOS the disease. As in all genetics, the The overo pattern includes three primary patterns that are genetically offspring gets one copy of a gene different. Frame overo horses (top) are the most likely to produce lethal from each parent. white foals. Although the mutation linked with OLWS has been found in Once the gene was located, the sabino (middle) and splashed white (bottom) horses, the risk of their mystery began to unravel. producing lethal whites is less. 146 ◆ PAINT HORSE JOURNAL ◆ MARCH 2004 ByAHair0304B 2/12/04 10:51 AM Page 147 How it works Inherited diseases, such as lethal N O N O white syndrome, are caused by mu- tations or changes in DNA. In 25% 25% 25% 25% lethal whites, a receptor gene con- N NN NO N NN NO tains a change in the order of the Solid Overo Solid Overo basic DNA building blocks, which results in a mutation that affects the 25% 25% 25% 25% normal development of the foal’s in- O NO OO N NN NO testines. Overo Lethal Solid Overo Animals receive one copy of each Many people believe they increase their chances of getting an overo foal if gene, which may be dominant or re- they breed two overos. However, as the Punnett Square on the left shows, cessive, from their parents. A horse these breeders have a 25 percent chance of getting a lethal white. If an overo that has two copies of the lethal white is bred to a solid-colored horse that does not carry the OLWS gene (square at gene will be a lethal white. right) they have a 50 percent chance of getting an overo—the same as when By knowing a horse’s genetic breeding two overos—but without the risk of producing a lethal white. makeup and avoiding the crossing of a stallion and mare that both carry the if they breed two overos, said Penedo. Looks can be deceiving lethal white gene, it is possible to pro- But research reveals this is not the Just as you cannot tell whether a duce foals that are overo, but not case. horse is at risk for producing lethal lethal white. “If they breed an overo to a solid- white foals by looking at its coat, a With a Punnett Square, scientists colored horse that does not carry the completely white horse is not always a can predict the possible gene combi- OLWS gene, their chance of getting lethal white. nations when crossing two horses. If overo offspring is 50 percent, the Interestingly enough, the white one uses the letter “O” to symbolize same as if they bred two overos,” she gene (W) is dominant over all other the overo lethal white gene and “N” explained. “But they eliminate the 25 coat colors, including gray. This for horses that do not have that gene, percent chance of getting a lethal means that a foal that receives only lethal white foals can be symbolized white.” one dominant white gene from either as “OO” because they have two copies Equine genetics can be very tricky. parent will be white. This horse has of the lethal white gene. You can’t always tell by looking at a white hair, pink skin and dark eyes. The overo parents of the aforemen- horse if it carries an overo gene. To- But even though the white gene is tioned foal would be represented ge- bianos, toveros and solid-colored dominant, scientists know that two netically as “NO.” White-spotted or horses can all produce lethal white dark-colored horses have produced a solid horses that do not have the mu- foals if they have the OLWS gene in white foal. One explanation is that tation would be “NN.” their pedigrees. the white gene may have a high rate When two overos carrying one copy That’s where the test comes in. of spontaneous mutation because of the OLWS gene, or (NO), are bred, Using a process called allele spe- foals produced by such crosses have the resulting ratio of offspring as solids, cific polymerase chain reaction gone on to breed as if they had a dom- overos and lethal whites is 1:2:1.
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