Accelerated Variability of Human Genes and Transportable Elements; Genesis of Network

In this review the authors address the issues related to the evolution of human. A human differs from all other species in that she acts according to a plan, or an idea she has chosen. The discovery of HAR (human accelerated region) showed that evolutionarily new regulatory regions play an important role in the functioning and development of the human brain. In Homo sapiens, conserved sequences in this area underwent numerous single nucleotide substitutions. In the five selected HARs, substitution rates were 26 times higher than those for chimpanzees showing 63 extremely fast-paced regions for H. sapiens. Human genes that regulate the development of the nervous system during evolution underwent positive selection mainly within their non-coding sequences. 92% of the detected HARs are located in intergenic regions and introns and therefore are regulatory sequences, such as enhancers. Only 2% of our genome consists of genes encoding a protein, and the remaining 98% encode regulatory elements that control gene expression in different tissues. Eukaryotic genomes contain thousands to millions of copies of transportable elements (TE). Authors believe that evolution is driven by the dynamics of transposons (TEs) and natural selection. Population studies have found thousands of individual TE insertions in the form of common genetic variants, i.e., TE polymorphisms. Active human TE families include Alu, L1, and SVA elements. These active families of human TE are retrotransposons. Analysis of human polyTE genotypes shows that patterns of TE polymorphism repeat the pattern of human evolution and migration over the past 60,000-100,000 years. They are involved in changes in human regulatory genes. The similarity of patterns allows one to see the effect of TE on regulatory structures that create the structure of the human body, using encoded structures. This conclusion is consistent with studies of intelligence genes, which are based on SNP associations with IQ, as well as with the foundations of a structural and functional network. High proportion of positive selection of genetic variants of our species for the last 6 million years and soft sweeps may explain the accelerated evolution of H. sapiens. The acceleration of gene variability in HAR occurred in parallel with an increase in the activity of the prehuman aimed at the expedient creation of a local environment with neutral mutant genes, expressed in soft sweeps. Humanity itself creates its own present and future biological evolution.