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PURINA Pro Club Cocker Update Vol. 7, No. 1 ■ June 2008

Cocker Spaniel DNA Bank Begins with Research

hen a buyer called When she learned that researchers trait,” explains Liz Hansen, the DNA Wilma Parker to report that thought that epilepsy is possibly due bank project coordinator at the Uni- Wher Cocker Spaniel had tested to a recessive gene, Parker searched versity of Missouri. “In some breeds, positive for , Parker was her bitch’s pedigree to see if she had breeders send us DNA from every surprised. As she began calling owners any related to the stud . She puppy they whelp. Some of these of littermates to make them aware, found a few Cockers several genera- breeders have been doing this for six she learned that two Cockers from the tions back. or seven years, establishing extensive litter were having . After realizing the prevalence of family group data.” Parker was baffled. She and her epilepsy in the breed, Parker contacted The American Spaniel Club already husband, Sam, of West Chester, Ohio, Bobbie Kolehouse, grant and scholar- had a comprehensive online health had been breeding Triannon Cocker ship director for the American Spaniel survey with data about epilepsy and since 1978. Though they had other diseases common to Cockers. bred many litters, this was the first DNA samples were needed to augment time they had experienced epilepsy A COMPLEX, DIFFICULT DISEASE TO the survey information. Parker began in their dogs. calling owners and breeders from “When I asked these owners UNDERSTAND, EPILEPSY IS MOST her pedigree asking them to donate why they had not contacted me, they blood samples. LIKELY CAUSED BY A BIOCHEMICAL replied that their had “We wanted to collect as many told them epilepsy was common in DEFECT IN THE BRAIN CELLS OR IN samples from one family as we could Cockers and that seizures could be get,” Parker says. “Other people started expected,” Parker recalls. THE BRAIN CELL ENVIRONMENT. helping me recruit participants for the Parker called her friend, Martha Bell, study. Not a single person refused to who owned a finished male Cocker send DNA. We collected blood samples from the litter. CH Triannon Wonderful Club Foundation (ASC-F), about the from about 125 dogs in one family, one Wizard (“Ozzie”) had gone on to sire possibility of collecting DNA samples of the largest family groups we col- several litters and had on the from affected dogs and their relatives lected. We set up the Cocker DNA ground. Sadly, it turned out that Ozzie, and banking them at a facility doing bank in 2002, and the first collection too, developed epilepsy, although the epilepsy research. at the ASC National Specialty was in disease did not begin until he was 3 Parker and Kolehouse learned that 2004 in Indianapolis.” years old. researchers at the University of Mis- “We are collecting blood samples The sire of the litter was owned by souri College of from affected and unaffected Cockers another breeder; he was a handsome had been studying canine epilepsy from around the world,” says Kolehouse. show dog and popular stud dog that for several years in English Springer “The data collection is an ongoing had produced many offspring. Parker, Spaniels and Standard process. A statistician and epidemi- who owned the dam, felt responsible and that the researchers had an exten- ologist are working with us. The sta- for the epilepsy and began calling sive bank of DNA taken from blood tistician has control of the database, Cocker enthusiasts who owned dogs samples. The University of Missouri but information about individual dogs related to her bitch and who had bred investigators agreed to add Cocker is not shared. Even the epidemiologist to Ozzie to inform them of the pos- Spaniels to the epilepsy research. doesn’t know who the dogs are. No sibility of epilepsy. “The positive aspect of collecting names or registration numbers are “I was on the phone nightly for and storing DNA is that then we don’t attached to the data.” weeks calling people and letting them have to collect samples of DNA every know about the epilepsy,” Parker says. time we want to look at a disease or Understanding Epilepsy Epilepsy affects from 2 percent to 4 percent of Cocker Spaniels, a statistic Submitting Blood Samples for Cocker DNA Bank that is similar to most other breeds, although individual bloodlines may ocker Spaniel breeders and enthusiasts who are interested in submitting have a higher incident rate. A com- Cblood samples for the breed’s DNA bank at the University of Missouri plex, difficult disease to understand, College of Veterinary medicine are encouraged to visit the American epilepsy is most likely caused by a Spaniel Club Web site at www.asc-cockerspaniel.org for information. biochemical defect in the brain cells You also may contact Liz Hansen, the DNA bank coordinator at the or in the brain cell environment. University of Missouri, by sending an e-mail to [email protected] Idiopathic epilepsy is a diagnosis or calling (573) 884-3712. For information about epilepsy, visit that comes from excluding other causes www.canine-epilepsy.net. Continued on page 2 K PMS 485

Epilepsy Research Hospital for Sick Children in Toronto, gene mutation, investigators won’t continued from page 1 Canada, and University of Helsinki in know definitely until the SNP chip Finland. Altogether more than 100 analysis is completed. If epilepsy turns of seizures, such as a brain tumor, brain canine breeds are being studied. out to be a polygenic condition, it , metabolic disease (such as When canine epilepsy research could be more complicated to identi- hypoglycemia or low blood sugar due began, the canine genome was not yet fy the mutation. The goal is to devel- to various causes or certain types of sequenced. Now, research is signifi- op a direct DNA test that will allow liver disease), or an abnormally formed cantly easier to find mutated genes breeders to identify which dogs have brain. In about 66 percent of idiopathic once a chromosomal area likely to the potential to develop the disease epilepsy cases, dogs have their contain the gene has been identified. and which healthy dogs are carriers. onset from 1 to 3 years of age. An The process involves conducting whole Parker looks forward to the day affected dog has normal physical, genome scans using SNP (single when a DNA test is available to neurological and laboratory examina- nucleotide polymorphisms) chips to identify carriers of epilepsy. “Having tions during intervals between seizures. identify specific gene sequence vari- a genetic test for this disease will Confirming the cause of epilepsy is ants. Although canine chromosomes help us to make informed decisions critical to successful treatment. from different dogs are more than when we choose breeding partners,” In 1999, the epilepsy researchers at 99 percent identical, they still vary she says. “In the meantime working the University of Missouri and those at at millions of sites. The majority of together to collect blood samples the University of Minnesota formed the differences are SNP letter changes. and educate breeders about the dis- Canine Epilepsy Research Consortium. “We have mapping data that is ease is the best way to help decrease The unofficial group includes veterinary being analyzed,” says Hansen. “If we disease incidence.” ■ and human clinicians, neurologists and can identify some mutations, then we geneticists dedicated to better under- can look at other breeds. If we find a standing the disease and ultimately mutation in one flushing spaniel, it Purina appreciates the support reduce disease incidence in dogs. may be the same in all flushing breeds. of the American Spaniel Club and The members share samples, data If we learn that the mutation involves particularly Bobbie Kolehouse, and resources to help advance the re - one or two chromosomes, we can find director of the grants committee and member of the scientific search. They also collaborate on papers. it quite easily. If not, we can do fine- research committee of the ASC The consortium includes research teams mapping that involves looking for Foundation, in helping to identify at the University of Missouri, Univer- more markers.” topics for the Purina Pro Club sity of Minnesota and Florida State Though a single autosomal recessive Cocker Spaniel Update newsletter. University and internationally at the gene is suspected to be the epilepsy

Canine Phenome Project Enhances Genetic Testing

pilepsy is one of a handful of diseases in which Cocker program,” Johnson says. “We wanted people to be able ESpaniels are included in research at the University to key in information on their individual dogs on an of Missouri. Owners whose dogs have been diagnosed ongoing basis. As we were doing the Fanconi syndrome with these diseases have sent blood samples to help research, we realized we had lots of DNA, but we didn’t researchers learn more about them. know that much about the dogs. People submit blood Cocker Spaniels are one of about 175 breeds in samples, but then their dogs’ health status may change. which owners have submitted blood samples over the We wanted to be sure to get as much phenotypic infor- past 15 years. The library of DNA consists of more than mation as possible.” 57,000 samples that have been collected primarily for Among the capabilities of the Canine Phenome Uni versity of Missouri genetic research projects work- Project are: ing with breed clubs and individuals. • Collection of blood or tissue samples for DNA testing; Additionally, stored in freezers at the University of • An online survey to assess disease prevalence and Missouri is DNA from thousands of blood samples sub- phenotypic information; mitted to the Canine Health Information Center (CHIC), • A system for collecting health records for individual a canine health information database sponsored by the dogs; and Orthopedic Foundation for Animals (OFA) and the AKC • A means for owners to contribute to research that Canine Health Foundation. benefits their breed. Key to any genetic research is having adequate DNA Besides the Basenji, participating breeds are Clumber from affected dogs and their relatives as well as normal Spaniel, , Kerry Blue , Coton de Tulear, and controls to conduct comparative analysis. Phenotypic Soft-Coated Wheaten Terrier. Parent clubs enroll their information about dogs whose DNA is stored for study breeds and pay a fee covering costs for two years. Parent can also be instrumental. This is the purpose of the clubs may elect to cover costs for individuals to enroll Canine Phenome Project. their dogs, or individuals may enroll their dogs for a A collaborative effort between the University of one-time fee of $40. Missouri College of Veterinary Medicine and OFA, the Among the benefits for owners who take part in the Canine Phenome Project began in 2003 with a goal of Canine Phenome Project is the ability to keep track of establishing a broad-based database of phenotypic infor- their dog’s health records by entering them in an online mation and DNA from individual dogs within participating health record diary. Owners can include a dog’s photo breeds. As technological advances are made that ease the and can scan and upload laboratory results. The informa- processing of DNA and study of gene mutations, the tion can be shared with veterinarians via a password to database and its wealth of information will be available the account. to help researchers studying specific diseases. Fine-tuning of the Canine Phenome Project is an The Canine Phenome Project was initiated by Gary ongoing project. The software currently is being updated. Johnson, D.V.M., PH.D., associate professor of veterinary With its rich database, including both DNA and pheno- pathobiology at the University of Missouri College of typic information, the Canine Phenome Project offers Veterinary Medicine. A molecular geneticist, Johnson parent clubs and breeders alike a meaningful tool. studies canine genetics and gene mutations. His work to For information about the Canine Phenome Project, identify the gene marker for Fanconi syndrome, a late- contact project coordinator Liz Hanson at HansonL@ onset, fatal kidney disease, in Basenjis led to the origin missouri.edu or by calling (573) 884-3712. To view the of the Canine Phenome Project. Web site for the Canine Phenome Project, go to www. “The focus was on creating an online interactive caninephenome.org.

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