DNA Testing and the Koolie Pedigree Assurance Program
DNA TESTING AVAILABLE TO KOOLIE CLUB OF AUSTRALIA MEMBERS
Full Koolie Profile DNA profile, all diseases and traits $135
Koolie Disease Screen (diseases most likely to effect a Koolie) $65
DNA profile Your dogs own gene fingerprint Every dog has it's own distinct set of genes. Can be used to identify dogs, prove parentage or check if potential mates are closely related.
DGMY Degenerative Myelopathy Progressive disease of the spinal cord in older dogs causing loss of use of the rear limbs.
IVMY Ivermectin Sensitivity MDR1 Multidrug resistance, including antiparastic agents like Ivermectin and antidiarrheal Imodeium.
PLLX Primary Lens Luxation Lens is partially or fully dislocated from the threads holding it in position in the eye.
PRA Progressive Retinal Atrophy Disease of the retina where the rod cells die causing blindness.
PRCD Progressive Rod Cone Degeneration of the retina causing progressive vision loss.
NCL Border Collie Pathological degenerative changes occur in the central nervous system resulting in neurological impairment and early death.
Long Hair Gene Long hair is recessive so short coat dogs can pass the gene on without knowing it is present when bred to another dog also hiding the gene.
Natural Bob Tail A dominant gene that can be variable with nearly full length tails while others may have virtually no tail. It's possible two copies of the gene is lethal in utero. This could cause two carriers to produce 25% affect offspring thus reduced litter size.
Koolie Colour Trait Screen $45
Dilute A mutation on the gene responsible for melanin containing genes causing improper distribution and washed out colour.
A Locus Agouti which includes Sable which will hide merle so making it difficult to know you are not breeding merle to merle. Plus black & tan and brown points.
K Locus Relates to dominant black, brindling and can mask other colours such as Agouti
B Locus Brown, Liver, Chocolate, Red
E Locus Recessive red, an affected dog is unable to produce black in its coat. Eyes and nose are unaffected so can still have a black nose.
Em Locus Masked black on the muzzle and ears sometimes spreading to black tipping on the chest an/or back.
Koolie Disease Plus $45
Dilution alopecia Causes gradual onset of dry, dull brittle and poor quality hair. Hair shafts break and regrowth is poor, resulting in progressive, partial, patchy alopecia and stubble. Chronic cases can include scaling and secondary bacterial infections.
Spotting Gene Creates the white areas most often socks, chest, tail tip, collar etc. Also known as Irish Trim.
CMR1 Canine Multifocal Retinopathy Causes raised lesions to form on the retina altering the appearance of the eye.
CHYP Canine Hypercurosuria Causes production of high levels of uric acid in urine, can lead to bladder stones and less frequently kidney stones.
TNS Trapped Neutrophil Syndrome. An immune deficiency where bone marrow neutrophils are not released into the bloodstream.
Symptoms include puppies failing to thrive.
Merle (when available, check before testing) Coat pattern (not colour) that can cause blindness and deafness with two copies.
Cobalamin Malabsorption Failure to absorb Vitamin B12 from the intestine.
Symptoms include Anorexia, Lethargy and failure to gain weight.
Combined Testing of Koolie Disease & Disease Plus $95
Combined Testing of Koolie Trait & Disease Plus $95
Samples collected by an Authorised Collection Agent (including Vets) who records a micro chip number at collection, will be recognised in the Breed Register. Samples collected by the owner are for personal use only and should not be publicised.
Koolies with a Full Koolie Profile test will have the registration number appended with H
We had a long road to identifying the Koolie's specific DNA.
We were fortunate to have George Sofrinidis visit a meeting when he was working for GTG who did the initial profiling. After this he shift to ASAP/Orivet where we started all over again (new dogs as well so the Koolie signature has been found twice and koolies have been declared are DNA proven breed of their own on two occasions, by two different companies).
Here is a presentation where the DNA process and relevance is explained.
DNA is a modern science, so much so that knowledge and possibilities are changing every day. Things that were impossible a short while ago are common practice today. The science is evolving every day.
It is with great pleasure that the Koolie Club of Australia embraces this science with the assistance of Orivet Laboratories and Mars Veterinary.
Some people like to use words like "impossible" and "can't be done" but with the backing of the scientists from these extremely experienced organisations our abilities and services will be improving as the science evolves. They are happy to work with us, not only providing services but advising us and discussing possibilities and implications before we move in any particular direction.
DNA testing is the future for breeds and breeders that want to breed their dogs with full knowledge of what they are using, without chancing a lack of knowledge, guessing, or even misinformation by people trying to “beat the system”.
Unfortunately in the dog world and animal breeding world in general there are chances taken every day by people relying on only a visual assessment of their breeding animals to make decisions that could not only affect their next litter but their line of animals and potentially the future of their breeding program and even their breed.
Some use a mathematical calculation of the likely outcome leading to the desired result, with only a chance of it coming about. One poor mating can set back or even undo many years of work and take many years to recover. Sometimes a breeder will research bloodlines and pour over generations of breeding for proven breeders or poor examples present in the pedigree but it is only guess work or a chance that the good or bad trait being looked for has been inherited. Then there is the chance that somewhere back through those generations the records are incorrect, by accident or even occasionally by design, rendering all the planning and calculating useless.
All good breeders, when planning their next breeding do so with the intention that the results of the breeding will be an improvement on both parents. This is a big challenge but if you are going to put yourself through the work and expense of breeding, to get the best value of your time and money, you need to end up with something better than you started with.
To be able to take that next step you need to use several tools to plan the mating, your knowledge of what is required of the offspring, what the abilities and temperament are of the potential parents, how their strengths and weaknesses balance out. Even knowledge of their ancestors strengths and weaknesses. DNA testing is another tool that the conscientious breeder can use to their advantage.
There are two types of tests available:
DNA Profile and Health Testing
The test results give each animals unique DNA profile and results for many inherited disease and trait tests.
A DNA profile identifies each dogs individual fingerprint and can be used to verify its parentage. Each profile shows 88 snips, each one a pair, one of each that was inherited from each parent. Comparing the dogs profile with it's mothers and potential sire it can be used to confirm or disprove if the sire is correct or not. This can be very useful for suspect matings or double matings.
A DNA profile can indicate the homozygosity of the dog. If the dog has inherited the same gene from both parents the DNA profile will show pairs of identical results. If most of them are not identical then the dog has a diverse genetic ancestry, if they are mostly identical the ancestry could be closely bred and caution should be used when selecting a mate. If these snips are homozygous (both genes the same) it means that some bad genes such as diseases, could be also.
Each certificate lists the disease and whether the animal is "Normal" "Affected" or "Carrier".
"Normal" means that the dog has not inherited the gene in either position.
"Affect" means that the dog has inherited the gene in both positions (one from each parent) and will more than likely be affected by it.
"Carrier" means that the dog has inherited the gene in one position (from one parent) and although it might not be affected by the disease itself it can pass the gene on to offspring, for generations......
Many genetic diseases require two copies of the gene to cause the dog to be affected by the disease. So a profile with good diversity gives less likelihood of inherited diseases being an issue. There are many inherited diseases that can be tested for with the potential for many more to be developed. Although the Koolie is generally a very healthy breed and most of the disease tests were developed for other breeds, the ability to test for them gives us an opportunity to pick up any potential issues before they become ingrained in the breed or our own lines. As the Koolie is a non “recognised” breed, records have only been kept since the formation of the club, it is unknown what other breeds have been bred into lines prior to this. Testing gives a breeder the opportunity to make an informed decision about their potential mates and could divert major disaster.
Some traits can be tested for as well, colours such as Chocolate, Sable and recessive red, coat modifiers such as merle and dilute, physical traits such as Natural Bob Tail and Long Hair gene.
Breed Purity Testing
The Koolie is not a “recognised breed” in the conventional way – recorded by a kennel society. But all Koolie owners and breeders know a Koolie IS a Koolie and breeds true.
Before the formation of the Koolie Club of Australia records were limited and unverifiable. Being a farm based breed, occasionally some cross breeding has taken place.
The Koolie Club of Australia feels the breed is best recorded and guided by those who know it best and so has it's own register and has issued registration certificates since 2000. The breed purity test is a simple way to be assured we are breeding with the purest Koolies possible to continue our lines.
As our aim is breeding good working Koolies with a sound temperament as opposed to pretty show dogs our focus is on ability. As there has been some cross breeding in the past which has created some excellent working dogs we included a section for them in our register for breeders to incorporate them back into their Koolie lines. DNA testing will give an accurate measure of their purity and give breeders knowledge to make their breeding decisions on and to be able incorporate even more Koolie genes.
Not all the puppies from a litter will inherit the same genes or purity from their parents, without DNA testing you can at best only make a calculation based on likelihood which could penalise one dog while giving false credit to another.
Breed Testing and History
A side benefit to the breed testing has been the ability for the scientists to compare Koolies to other breeds and determine their closest relatives within the pool of over 280 breeds that have already had breed test created.
Not surprising is the finding that the Koolies closest relative is the Kelpie having evolved from the same ancestors. There is ongoing research being done so the list of close relatives may change but currently the other close relatives are Collie, Shetland Sheepdog and Australian Shepherd.
The Koolie Club of Australia Inc. has implemented a DNA testing program. It is voluntary. Those who have micro-chipped their dog and submit a DNA sample will have their registration reflect the fact. Non micro-chipped Koolies can still be tested, but the results are only for the owners use, the club and the laboratory cannot verify that the results are from a particular dog without a tattoo or micro-chip.
DNA History: As a club we are quite open about the fact that our breed evolved on farms and stations with minimal records since the mid 1800's. Although accepted by those that have worked with Koolies - as a breed of it's own for a long time, they have not been "recognised" by conventional breed groups such as the Australian Kennel Control Council. For recognition by groups such as this a breed needs to be seen to be breeding true and have hundreds of dogs with many generations of records of breeding. This then sends the breed down the path of a closed gene pool where only those dogs meeting a set criteria are the only ones bred on from, concentrating the genes and any inherited problems with them. The problems of this scenario are becoming more obvious as time goes by in long time recognised breeds, such as inherited health disorders and the changing of the structures of breeds to reflect "standards" or fashions, not to effectively undertake the task the breed evolved for. These changes are more and more becoming negatives for their breeds. The changing of heads to the extent dogs can't breath, of body shape so they can't give birth without intervention or even walk without stress.
Koolies undertake several different jobs that lend themselves to a particular build or type. Eg. smaller lighter dogs are better for working on transports and in saleyards able to manoeuvre in tight places and easily jump fences or back sheep. Whereas a longer legged more solid dogs is suitable for mustering cattle on stations of many thousands of acres. A "standard" could evolve the breed to a middle of the road dog that really didn't do either job the justice they do now.
It has been a general consensus among koolie breeders, particularly those of agricultural origin, that the koolie doesn't go down this path and most particularly that it isn't entered in the show ring.
So the question evolved of where to from here? How do we firstly know that the koolies we are breeding from are just that..Koolies. It has also been accepted that at times just good working dogs were used as mates and so some crossing took place. Many long term breeders with decades of experience were determined not to take that path and travelled many hundreds of kilometers if they heard of a good dog, sometimes to mate theirs or to purchase, if the said dog didn't live up to expectations there would be a "sorry mate..." and they would walk away. If there wasn't a good dog available they would wait. A network of these breeders evolved all over the country so we can be pretty confident that dogs from those established breeders have minimal outcrossing, but how do we know?
DNA science has been evolving for years, whereas breeding by numbers of dogs and numbers of generations works only on odds and percentages, DNA is pure fact giving results that are unequivocal. Although we talked about the science we knew we could never afford to undertake the testing program that would be required to evolve a Koolie DNA test.
We were very fortunate though, that we crossed paths with George Sofrinidis who was working at GTG Laboratories in Melbourne at the time. He was very appreciative of the fact that the Koolie was an Australian breed that had not gone down the conventional path and had evolved unhindered by convention. He very generously offered to help, having the Koolie accepted by his company as a research and development breed. We were able to collect DNA samples from around 200 dogs, 20 of these were selected from a cross section of lines, breeders and states and used to create a Koolie Breed Test. The balance of the 200 samples were compared to the test. Because many genes are common between all dog breeds the geneticists were looking for a result of 76%+. Very pleasingly over 80% of the results were 90+% purity, a fantastic result. In addition they announced we had excellent genetic diversity.
Unfortunately GTG had a change of management who didn't see that even though we had put in all the work to create the test and put our trust in their company they didn't feel inclined to share the results of those tests with us. The focus of the management changed and George found it an inhospitable place and parted ways. We continued to request co-operation from the company but they failed to meet the agreement originally struck and refused to supply our results after we supplied them with the means of creating the test which they could subsequently sell.
Shortly after George started working with ASAP/Orivet Laboratories who in alliance with Mars Veterinary were starting their own DNA testing facility. We were back on track!
Orivet allowed us to select twice the normal number of dogs used to formulate a new breed purity test. Using the Koolies previously tested as a basis, 38 Koolies from the list or related to them were selected, covering 15 different lines from 20 different owners to create a new test. As more Koolies are tested they are added to the pool for new tests to be compared to. A Koolie does NOT have to be related to those original Koolies to be recognised as pure, they were simply used to find which group of genes are common to them to define what is a Koolie. Any information that they do need to be blood related is wrong and may be mischievous. They only need to exhibit the same group of genes that other Koolies do.
Orivet have been extremely helpful in evolving our testing program making available to us DNA Profiles, Health Testing and Breed Purity Testing, we thank them for including us and having the forethought to create their VGA program.
Obviously the development of this science has taken many years of serious research and peer review. We have no intention of trying to explain that process here but for those of you who would like to understand what has brought us to this point in modern history here is some not so light reading.
History of the Dog
The domestic dog is thought to have descended from the grey wolf, and has since evolved to become the most morphologically diverse mammalian species.
Phylogenetic tree representing the divergence of canine breeds from the wolf
The many breeds recognized today are the result of careful selective breeding for functional attributes deemed beneficial to their human owners including hunting, guarding, and herding and desirable physical characteristics such as skull shape, size, and coat variation.
The formation of breed clubs and the closure of their canine registries over the last few centuries have ensured that the breeds found today are purebred and share similar features as determined by the breed standards.
Genetic analyses across closely related breeds have suggested that a given breed represents a distinct genetic unit; consequently, relative genetic similarity within breeds makes the construction of definitive breed signatures a realistic proposition.
Canine Population Structure