M.E. Lobashev’s physiological theory of the mutation process and the formation of contemporary views on mutational changes in genetic material

Abstract

Changes in mutation rates can significantly impact population size and its genetic structure, leading to the emergence of new traits and species. At the same time, the destabilization of genetic material is the main cause of hereditary and oncological diseases and aging. M.E. Lobashev was the first to point out the connection between mutations and repair. He introduced the concept of a premutation state or primary lesion of genetic material and suggested that mutagenesis is a physiological process in which mutations occurs during the repair of damaged genetic material due to non-identical restoration of its structure. The theories of M.E. Lobashev laid the groundwork for understanding the causes and mechanisms of inherited changes in genetic material, which have been experimentally confirmed in studies of replication, repair, and recombination. It is now known that mutations arise through a multistep process over time, due to ambiguity of one of template processes — DNA synthesis. Recent research made it possible to establish the physical nature of primary lesions and mutations, to develop various methods for their identification, and estimate the impact of primary lesions and mutations in the phenotype formation.