Genetic Load of Mutations Causing Inherited Diseases and Its Classification in Dairy Cattle Bred in the Russian Federation

This review addresses the concept of genetic load from the point of view of molecular genetics, development and efforts in selective breeding. As typical examples, the assessment of animals in the Holstein breed and its high-blooded crossbreeds is considered for mutations that cause three inherited diseases: bovine leukocyte adhesion deficiency (CD18 locus), complex vertebral malformation (SLC35A3 locus), and brachyspina (FANCI locus). The reasons for their occurrence and accumulation in the breeding herds of the black-pied genealogical root are discussed. These include an intense artificial-selection of bulls and cows in highly productive herds and the intensive sale (within and between countries) of breeding material (animals, semen, embryos) from a small population of sires from countries with a high level of dairy-cattle breeding development. There is a founder effect when the source of mutant-allele spread is a prominent sire. For example, the greatest contribution to the spread of mutant alleles CD18(G), SLC35A3(T) and FANCI(BY) was made by the descendants of three closely related bulls. A genogeographic generalization of the mutation occurrence in the world and Russia is provided for these hereditary-disease loci and, includes a total of 31 countries where these mutations were detected. The genetic-load classification for these and other mutations is given. The mutations are inherited both recessively (CD18(G), SLC35A3(T), FANCI(BY)) and codominantly (CSN3(A), CSN3(C), CSN3(E), CSN2(A1), CSN2(B)). Genetic load is classified into the following types: mutational, segregation, substitutional, and immigration. For each of these, examples are given that explain their occurrence. Overall, it can be concluded that the phenomenon of genetic load in industrial herds of dairy cattle requires special attention when creating healthy livestock and obtaining high-quality dairy products.

Automated summary

This review explores the concept of genetic load from the perspectives of molecular genetics, development, and selective breeding. It focuses on the assessment of genetic mutations causing three inherited diseases in Holstein breed and its crossbreeds, namely bovine leukocyte adhesion deficiency (CD18 locus), complex vertebral malformation (SLC35A3 locus), and brachyspina (FANCI locus). The reasons for the occurrence and accumulation of these mutations in breeding herds are discussed, including intense artificial selection and the sale of breeding material from a small population of sires. The study provides a genogeographic overview of the mutation occurrence in 31 countries and classifies the genetic load into different types.