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Effects of selection on genetic health of purebred dogs
22.04.2021
Natural selection directs the emergence of new species and the eradication of inherited traits that reduce the animal’s chances of survival. Artificial selection (the formation of dog breeds) is directed by people and their breeding decisions that are not always in line with the principles of natural selection (better survival). Purebred dogs are genetically isolated populations within a species with specific traits developed through artificial selection. From the perspective of genetic diseases artificial selection can reduce, maintain, or increase the frequency of disease genes. Most breeds originated from a limited number of animals and consequently limited genetic material. The effect of the formation of geographically separated subpopulations within the breed, the overuse of popular males, and line breeding further limit the heterogeneity of genetic material, leading to an increased risk of developing genetic diseases.     Unwanted genetic conditions or diseases are the result of planned or unplanned breeding errors. Excessive selection for certain body traits has led to conditions that cause breed specific health problems (brachiocephalic syndrome, excessive amount of skin). The transfer of disease genes can be random or linked to the selection of desired traits. An example of a genetic disease linked to the selection of a specific desired trait is hyperuricosuria in Dalmatians. A recessive disease mutation is responsible for abnormal urine metabolism. Due to the linked inheritance of this mutation with the desired dotted pattern of coat, it has become fixed in Dalmatians (present in all dogs). With the project of planned mating with a healthy pointer and further planned breeding, we already have quite a few registered Dalmatians with a characteristic spotted coat and without a disease mutation (1).   In the past, breeding plans were limited only to traits that were expressed in animals. In the recessive mode of inheritance, there is a problem of elimination of carrier animals that do not develop disease symptoms but pass the causative mutation on to their offspring. In such cases diseased animals can appear in each generation. Late onset diseases which develop clinical signs at an old age are also a problem, as these animals cannot be excluded from breeding in time. Progress in the field of genetics in recent years has enabled the development of genetic tests, which are of great help to today's breeder. Based on the result of a genetic test mating can be planned with the aim of disease eradication. Without direct selection against predispositions to genetic diseases, no improvement in breed health is expected.   A genetic test is an extremely powerful tool that can be very helpful in making informed breeding decisions. For its proper use, several factors need to be considered: the presence of a specific disease in a breed, frequency of occurrence, penetrance (proportion of animals with a mutation that develop the disease), mode of inheritance and type of mutation (loss of function / increased risk). It is necessary to be aware that the genetic test gives us information about a specific disease and not about the general health of the dog, therefore the result of a genetic test must be placed in a broader context when making breeding decisions (general health of the dog, behavioural characteristics, dog function).   The fact is that advances in genetics and the development of various genetic tests have a major impact on modern dog breeding. If in the past breeding strategies were formed based on visible traits, today it is possible to plan and predict consequences of breeding with the help of genetic tests and to avoid undesirable traits in offspring.   Genetic homogeneity is not necessarily a problem as it is the result of species and breed formation, but it can be a problem if it leads to homozygous alleles on disease genes. Appropriate selection focused on health improvement ensures the long-term existence of dog breeds. Healthy and heterogeneous genetic material of purebred dogs is responsibility of breeders. Modern genetic tools give a wealth of information that can be used to pursuit breeding goals focused on health and functionality of dogs.   Reference: (1) Schaible, Robert H. (1981). "A Dalmatian Study: The Genetic Correction of Health Problems". The AKC Gazette.
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Development of genetic tests
26.03.2021
Detecting new mutations and developing genetic tests is one of the first steps in controlling hereditary diseases in a dog population. Genetic tests allow us to avoid hereditary diseases with planned mating and even eradicate them through their informed use.   The development of a genetic test is done in several stages. Cooperation of breeders, veterinarians and researchers is essential for the development of a genetic test. Dog breeders can best track whether a problem that occurs in the dog line is hereditary. Most genetic diseases discovered in dogs to date are inherited autosomal recessively, in which both copies of the same gene must be defective for the genetic disease to develop - a copy received from the mother and a copy received from the father. You can read more about the mode of inheritance of genetic diseases HERE. It is very important for breeders to work with veterinarians, who can accurately describe the symptoms, link them to certain conditions and publish them in scientific journals. Thus, it often happens that several articles with symptoms of a genetic disease have been published before the development of the genetic test. In addition to the mode of inheritance and symptoms, it is also very important to know when the first signs of a genetic disease appear. Is it a genetic disease that occurs during embryonic development, immediately after birth, in the first year of life, or is it a late-onset disease.     When it is clear from the scientific publications or observations of breeders that certain symptoms are present due to a genetic disease, researchers search the entire genome and try to find causative mutation with the help of the latest genetic techniques. Mutations are permanent inherited changes in the genome caused by various factors called mutagens. Under the term mutation we often imagine something that is harmful to the individual, but this is not the case. Mutations can also be beneficial as they can give some individuals a new trait that improves their quality of life. For example, a mutation in hair length allows some breeds of dogs to live a better-quality life in cold conditions. Mutations that are beneficial to an individual are often preserved in nature. In the case of genetic diseases, we are talking about mutations that are harmful therefore we try to avoid them by correct breeding plans.   Detecting mutations alone can be quite time consuming, as research can take years. Mutations are sought throughout the dog’s genome, which is about 2.5 billion bases long. Genetic diseases can be monogenic, where the mutation is present in only one gene, or they can be polygenic, where several genes are involved in the development of a genetic disease. At the time of writing, more than 300 mutations associated with genetic diseases and traits of dogs are known. Most of known genetic diseases are monogenic, as much more studies and knowledge of the function of individual genes are needed to understand the functioning of polygenetic diseases.   When a new mutation for a particular genetic disease is known and well described, an article in scientific journal is published. The publication of the article is followed by the development of a genetic test that will be available to the general public.
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