The impact of mobile genetic elements on human genome evolution

Transposable elements (TEs) are recognized for their great impact on the functioning and evolution of their host genomes. They are associated with different effects on the genome and are also important actors in the evolution of genomes by promoting genetic diversity and new regulatory elements. The human genome can produce hundreds of thousands of different protein sequences with its relatively modest number of coding genes. Since not the number of genes, but the diversity of alternatively spliced exons and in combination with mobile genetic elements, contribute to genetic diversity and complexity. Consequently, it is important to study their activity diversity associated with TEs especially at a locus-specific level to determine their individual influence on gene functioning. Others and we have established that the copy number of TEs, which can comprise up to 80% of large genomes, is the primary factor driving growth in genome size and its variability. However, due to their repetitive nature, they are very difficult to study using data obtained with short-read sequencing technologies. We have obtained 500 individual human genomes sequences of various nationalities from long reads obtained by Oxford Nanopore Technology (ONT) sequencing. Therefore, we can precisely describe the genetic diversity of the most recent TEs and endogenous retroviruses insertion events, representing both coding and noncoding parts of the human genomes. The comparison of individual human genomes based on the mobile genetic elements and endogenous retroviruses diversity suggests their involvement in human evolution and genetic diversity.

Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan