We all know that dogs have been selected and bred to have more variation in size and body type than most domestic animals – so, it's no surprise that there is so much distinction in coat type and color. Most coat types have very diverse rationales including protection and adaptability for work and beauty in various breeds. In many breeds, there is a range of colors that are permissible within the standard and, in some breeds, all of the dogs have the same color patterns. Because of this variety, the genetics of coat color in dogs and other species has been studied for many years.

Information based on pedigrees and breeding data has led to various hypotheses and postulating, however, scientists funded by the AKC Canine Health Foundation have now unlocked the mystery. In the latest issue of “Animal Genetics,” Drs. Shelia Schmutz and T. G. Berryere explain their findings and announce the genetic tests that are now available which will identify if your dog is a heterozygous or homozygous carrier for certain colors.

ACORN funding from the AKC Canine Health Foundation laid the groundwork for the identification of seven genes which cause specific coat colors, and – as a result – many genetic tests have been developed for Briards, English Setters, Miniature Schnauzers, and Pug Dogs. The identification of these alleles has provided information on interactions in this complex set of genes involved in both pigmentation and neurological development.

Click here for more information on this important research including links to available tests.

To support this and other important research at the Canine Health Foundation, give securely online here.

A DNA Test for Neonatal Encephalopathy
[Tuesday, March 28, 2006]

Dennis O'Brien, DVM, PhD,
Gary Johnson, DVM, PhD, and
Liz Hansen, BS University of Missouri College of Veterinary Medicine
Columbia, MO – The AKC Canine Health Foundation is pleased to announce that researchers at the University Of Missouri College Of Veterinary Medicine have mapped the disease locus, identified the mutant gene and the mutation causing the disease, and devised a DNA test which distinguishes normal, carrier, and affected Standard Poodles with Neonatal Encephalopathy.

With support from the Poodle Club of America, the St Joseph Missouri Kennel Club, and individual Standard Poodle owners, researchers at the University of Missouri-Columbia have been investigating a previously undescribed fatal developmental brain disease in an extensive family of Standard Poodles. The disease is inherited as an autosomal recessive trait, and most affected puppies die shortly after birth. With intensive nursing care, affected pups can be kept alive for a few weeks; however, none have survived past their fifth week. A manuscript detailing these findings is being prepared for publication in the scientific literature.

Effective immediately, researchers at Missouri are making the DNA test available to Standard Poodle owners. Investigators validated the DNA test by analyzing all 91 of the Standard Poodle samples already in their collection. Owners who have already sent blood samples from their Standard Poodle and would like to know the test result may contact the researchers by email (HansenL@Missouri.edu) and you will be provided the result without charge. The testing fee for new samples is $40 per dog. Instructions and a form to send with the sample to be tested are in the "sample submission" section of the project website, www.CanineGeneticDiseases.net/ataxia. Funds generated from this testing will be applied to the development of DNA tests for other heritable canine diseases. To avoid producing affected puppies, all breeders are encouraged to test their Standard Poodles before they are bred and to refrain from breeding two carriers to each other. Breeders who follow this advice will not produce affected puppies in their litters. Now that researchers better understand the cause of this disease, investigators would like to examine a few more newborn affected puppies. Therefore, they will test all pregnant Standard Poodles at no charge until the end of May, 2006.

How The Research Began
In 1997, researchers examined two five-week-old Standard Poodle pups suffering from difficulty walking and seizures. Their littermates were developing normally. Treatment of the seizures was unsuccessful, and the affected pups were euthanized. Subsequently, more than 14 litters with pups showing identical clinical signs have been identified by veterinary neurologists in various areas of the country.

What is Neonatal Encephalopathy?
"Neonatal" refers to the time immediately after birth. "Encephalopathy" refers to a disease affecting the brain. Thus Neonatal Encephalopathy means a disease of the brain that becomes apparent soon after pups are born. Affected pups have been weak, uncoordinated, and mentally dull from birth. If they survive the first few days, they nurse adequately. They may not, however, be able to compete with stronger pups in the litter and their growth may be stunted. Some cannot stand at all. Others manage to struggle to their feet and walk with jerky movements, falling frequently. Seizures develop in most affected pups at 4-5 weeks of age. Attempts to control these seizures with medication have proven futile, and the pups die or are euthanized before they reach weaning age.

Post-mortem examinations have been performed on some affected puppies. While no changes were found in the first brains examined, more recent examinations have found changes in organization of the portion of the brain responsible for coordination (the cerebellum) and possibly in the area of the brain that would produce seizures (the cerebrum).

What other diseases might look similar?
A number of brain diseases of young dogs could produce similar signs, so it is important to avoid confusing every symptomatic puppy with this specific disease. Low blood sugar can produce dullness and seizures in pups who aren't nursing well or who have congenital problems regulating their blood sugar. The low sugar levels would be apparent on routine blood tests taken when the pup is showing clinical signs. Liver shunts can cause altered behavior, coordination difficulties, and sometimes seizures. Abnormal liver function would also be apparent on appropriate blood tests, and the shunt would be found at post-mortem examination. Hydrocephalus (water on the brain) or other congenital malformations of the brain could produce similar signs, but such problems would be readily apparent at post-mortem examination. Infections either while in the uterus or immediately after birth can cause brain damage, but would typically affect the entire litter. Inflammation would be apparent in the brain at post-mortem. Certain infections of the dam (involving toxin-producing bacteria, for example) also would be expected to affect a large percentage of the litter.

What remains to be done?
The researchers' primary goal was to create a DNA test that identifies Standard Poodle carriers of the mutation so that Standard Poodle breeders can avoid producing affected puppies by never breeding two carriers together – this goal has been accomplished. Nonetheless, some interesting and important scientific questions with implications for both human and canine health still remain to be answered. Thus, any breeder who has already bred their female Standard Poodle may have her tested at no charge (offer good through the end of May, 2006). If she is a carrier, the lab will also offer a free test to the mate to determine if he is also a carrier and the puppies are at risk of having the encephalopathy. If, in fact, some affected pups are expected, investigators would like an opportunity to examine them. Much of the laboratory work was done by Ms Xuhua Chen and will appear in her Masters thesis.
 

Four Named to Canine Health Foundation Board of Directors
[Wednesday, March 22, 2006]

Raleigh, NC— "We are pleased to announce that Stuart Eckmann, Howard Falberg, Karen Mays, and Melanie Steele have been elected to serve on the AKC Canine Health Foundation Board," says Wayne Ferguson, president of the Foundation. "Each of these dog fanciers brings a wealth of knowledge, skills, and enthusiasm to the Board of Directors, we are looking forward to working with each of them as we continue our journey in canine health research."

Profile, Stuart F. Eckmann:
Stuart Eckmann is former President and is currently serving as the Co-Chairman of the Tibetan Terrier Club of America (TTCA) Health Committee. He is a member of the AKC Canine Health Foundation's President's Council and a Heritage Society member. An active member of the TTCA, Eckmann was instrumental in the development of the Tibetan Terrier DNA Bank and acted as co-investigator once the bank was funded by CHF. In addition, Stuart has collaborated on the development and execution of grants involving canine ceroid lipofuscinosis and progressive retinal atrophy in Tibetan Terriers. Eckmann is also involved with fundraising for the TTCA Donor Advised Fund and has secured over $200,000 in outside funding in support of Tibetan Terrier projects. An avid writer, Stuart has been published in AKC Gazette, Today's Breeder, Dog World, and The Saturday Evening Post among others. Eckmann resides in Mountain View, California with his wife Lois.

Profile, Howard F. Falberg:
Howard Falberg is the former President and Emeritus member of the Board of Directors of the Canine Health Foundation. He purchased his first Golden Retriever in 1969 while living in Cincinnati, Ohio. At that time there was no Golden Retriever club in Cincinnati, so he and his wife Carol made the 100 mile trip to Columbus for meetings. They were active and served in various executive roles in the Los Angeles, Greater St Louis, and Hudson Valley Golden Retriever Clubs before moving back to California. Falberg's Goldens competed under the kennel name "Westmont" primarily in the area of conformation. Dedicated to the health of their dogs, Howard says he and his wife Carol's emphasis was to "breed dogs that are sound in movement and structure, type as reflected and defined by the AKC standard, outgoing and giving in spirit, appealing in looks and demeanor." Mr. Falberg and Mrs. Falberg (who passed away in 2005) strove to raise "true companions wherever and with whomever they reside." Falberg resides in Poway, California.

Profile, Karen Mays:
Karen Mays, a Borzoi breeder among other breeds, is currently serving her tenth year as the AKC Delegate to the Windward Hawaiian Dog Fanciers Association. In this capacity she was elected Member and Secretary of the Delegate Parent Club Committee and has chaired the National Specialty session of the two Delegate Parent Club Conferences. She has been a member of the Atlanta Kennel Club since 2001 having served as Corresponding Secretary and now President. A founding member of the Central New Jersey Hound Association and the North Georgia Hound Association among others, Karen has served in various capacities in over 14 kennel clubs stretching from Hawaii to Delaware. Mrs. Mays reflects that she is honored to be serving on the Board of the Canine Health Foundation and that she hopes "that I would prove to be an asset to this organization that was so meaningful to Asa." Mr. Mays, who passed away in 2005, served with distinction as an AKC Board and AKC Canine Health Foundation Board member. Mrs. Mays resides in Duluth, Georgia.

Profile, Melanie S. Steele:
Melanie Steele serves as the AKC Delegate to the Greyhound Club of America, and in this capacity has served as Past Chairman of the Judges Selection Committee and Past National Specialty Hospitality Chair. She and her husband, Jack, purchased their first dog together in 1985, a Weimaraner, and showed him to his championship. Gradually, their love of the sport grew and together under the kennel prefix GrandCru, they have owned, bred, or cobred over 40 champions including prize winning Greyhounds, Scottish Deerhounds, Weimaraners, Border Terriers, a Parsons Russell Terrier and a German Wireharied Pointer. Melanie is a member of the Greyhound Club of England, the Scottish Deerhound Club of America, the Deerhound Club of England, and the Glen of Imaal Terrier Club of America. Mr. and Mrs. Steele reside in Waxhaw, North Carolina.
 

CHF Funded Researchers Closing in on Fanconi Syndrome
[Tuesday, March 14, 2006]

The AKC Canine Health Foundation announces that Dr. Gary Johnson's laboratory is closing in on the genetic cause of Fanconi Syndrome (FS) in Basenjis. Canine Fanconi Syndrome is an inherited adult-onset kidney disease, common among the breed. FS, an inherited disease, is a major health concern for the breed. With this syndrome, the tubules in the kidney, for unknown reasons, fail to do their job of reabsorbing nutrients into the dog's system. Undetected, it will shorten the dog's life.

Scientists at the Animal Molecular Genetics Laboratory at the University of Missouri College of Veterinary Medicine succeeded in mapping the locus for Fanconi Syndrome in Basenjis just two weeks ago. This means the investigators know which region of a specific chromosome contains the mutation causing this disease. However, they do not yet know the gene or the exact mutation responsible. Researchers will continue to further narrow the region until they have a small area and can examine a few likely genes in that tiny region. Hopefully the coming few months will reveal the mutation, and the lab will make a test available to Basenji breeders allowing them to continue to breed good dogs while avoiding this devastating disease.
 

Merle Patterning Gene Identified
[Wednesday, March 08, 2006]

The AKC Canine Health Foundation announces that Dr. Keith Murphy’s laboratory has published its findings describing the genetic cause of merle coat patterning in dogs. Dr. Murphy is Professor, Department of Pathobiology at the College of Veterinary Medicine and Biomedical Sciences of Texas A&M University and has been funded by the CHF for various projects. The findings are significant in that dogs with merle patterning often suffer from deafness and ocular abnormalities. Therefore, the merle findings will certainly assist future research concerning these canine health issues.

Merle is a pattern of coloring observed in the coat of the domestic dog and is characterized by patches of diluted pigment. This trait is inherited in an autosomal, incompletely dominant fashion. Dogs heterozygous or homozygous for the merle locus exhibit a wide range of auditory and ophthalmologic abnormalities, which are similar to those observed for the human auditory–pigmentation disorder Waardenburg syndrome. Mutations in at least five genes have been identified as causative for Waardenburg syndrome; however, the genetic bases for all cases have not been determined. Linkage disequilibrium was identified for a microsatellite marker with the merle phenotype in the Shetland Sheepdog. This region of the human genome contains SILV, a gene important in mammalian pigmentation. Therefore, this gene was evaluated as a candidate for merle patterning. These data show that SILV is responsible for merle patterning and is associated with impaired function of the auditory and ophthalmologic systems. Although the mutant phenotype of SILV in the human is unknown, these results make it an intriguing candidate gene for human auditory–pigmentation disorders. The patented genetic test for merle is now available through the Canadian company, Vita-Tech which carries out tests for merle in multiple breeds. More information on Vita-Tech can be found at: http://www.vita-tech.com/home.cfm.

The results of this work are published as Retrotransposon Insertion in SILV is Responsible for Merle Patterning of the Domestic Dog (Clark et al.) in the January 31, 2006 issue of the Proceedings of the National Academy of Sciences of the United States of America (PNAS).