Oleg Balanovsky, Ph.D.

Genogeography Group, Head
Vavilov Institute of General Genetics

Population Genetics, Gene Geography, Physical Anthropology, Ancient Indo-European Languages, and Indo-European Studies

Title of Presentation: 
The Microevolution Processes in Human Populations: The Emerging Portrait of Global Gene Pool Structure
Abstract : 

The studies of genetic variation in human populations started almost 100 years ago: at the time of World War I, the pronounced differences in frequencies of blood groups were revealed for the first time. During the following century-long history of intensive research, the arsenal of population geneticists has changed six times.

The immunological markers or blood groups (1) were only available genetic systems for decades until biochemical markers (2) were widely introduced in 1960s. Both types are known as “classical markers”. The datasets on their variation in human populations worldwide are large and have been summarized by both Western (Cavalli-Sforza et al., 1994) and Russian (Gene pool and gene geography of fUSSR) scientific schools in the fields of gene geography. The classical markers are virtually out of experimental use in present days. But because their variation has been well described and analyzed, these generalized conclusions are widely used as a background for current research.

Since 1990s, the mitochondrial DNA (3) and Y-chromosome (4) became the most popular genetic systems in population studies. Hundreds of papers were dedicated to their variation, and accumulated datasets include hundreds thousands of samples from thousands of populations worldwide. The genome-wide (5) and full genome (6) markers are becoming the new favorite tools in the arsenal of researchers, but data on these genetic systems are not abundant yet. Thus, the first task is to summarize the accumulated data on mitochondrial DNA and Y-chromosomal variation, to extract the generalized patterns and to make the overall conclusions of the global gene pool structure from these two kinds of genetic data. The general trends in human variation revealed by these two systems will be valuable for decades even when no living researcher will remember experimental methods for their analysis. The second task is to compare these trends with the picture drawn by genome-wide markers in the last years and with the - emerging this year – picture drawn by the full genome sequencing.  

The talk will present:

- short reminder of the global trends in human variation, revealed by the classical genetic markers;

- the largest databases on mitochondrial DNA and Y-chromosomal variation worldwide;

- the cartographic atlases summing up patterns of human variation revealed by these two systems, including major directions of human colonization of the Earth, (sub)continental genetic continuums and boundaries between them, changes in the effective population size and fantastic geographic precision of human identification by using the Y-chromosomal lineages;

- the genetic structuring of the world populations as revealed by genome-wide markers and more detailed picture of genetic history of Europeans;

- the history of humans decoded from their full genomes and currently submitted to Nature;

- the promising approach of parallel analysis of the host and the pathogen genetic variation to trace migrations of both species.