My genes, my people, my history

The headline of this article is also the motto of the international research project “Genographic.” The researchers involved in this project are studying the gene pools of various peoples of the world. Where is the “ancestral home” of the human race? How did people move around the Earth? To what extent are we all related to one another? It is modern genetics that can answer these and other similar questions. Man’s genes contain the history of his ancestors, just as the genes of a people contain their history. By comparing the “genetic portraits” of present-day peoples, one can trace a common genealogy of mankind.

Scientists from various countries have long been studying the gene pools of their nations, but they did not have a global plan until recently. Every research unit dealt with specific genes (an individual has about 25,000 of them). With such an approach, it is next to impossible to compare the gene pools of different peoples. This changed in 2005, when the project “Genographic 2005-11” was launched. It was founded by a group of US geneticists with Spencer Wells at its head, and then received financial support from such influential organizations as the American Geographic Society and IBM.

For the project mission to be accomplished, our planet was divided into regions — Northern Eurasia, Eastern and South-Eastern Asia, India, the Middle East and Northern Africa, sub-Saharan Africa, Australia and Oceania, North America, and South America — each having its own research center furnished with unique state-of-the-art equipment. That is where scientists from all over the world would analyze the DNA samples they collected in their respective regions. The population of Ukraine is being researched by anthropogeneticists from the Kharkiv-based Karazin National University. As the Ukrainian researchers are so far short on equipment and funds, they are analyzing the genetic material they collected in expeditions at the Northern Eurasia regional center. That is where researchers from Mongolia and some ex-USSR countries are also making genetic analyses of DNA samples.

It is not accidental that organizers of this global project turned to none other than the Kharkiv university’s geneticists: the Ukrainian school of populational anthropogenetics is located in this very university. Its studies on genetics and demographics, conducted in the 1980s, brought Ukraine to the world scientific stage as a field for genetic research. The Kharkiv-based scientists mounted their first anthropological expeditions to Lviv, Cherkasy, and Khmelnytsky oblasts in the early 2000s. Their Russian counterparts provided DNA samples from the Ukrainians residing in Belgorod oblast. Thus the gene pools of western, central, and eastern Ukrainians were sampled by a joint effort. Differences were found. A human being has a CCR5 gene whose mutation CCR5del32 ensures resistance to AIDS. The bearers of this mutation do not contract AIDS even if they get infected with it. This mutation (the CCR5 gene reduced by 32 “letters”) occurs in different peoples with a varying frequency. The largest number of those who bear this useful mutation (about 20 percent) occurs in Arkhangelsk oblast, in northern Russia. The further to the south, the more seldom this mutation occurs. In Ukraine, the people who are genetically resistant to AIDS account for just one percent, with the frequency of mutation slightly differing in the populations of western, central, and eastern Ukrainians.

The findings of the Kharkiv-based and Russian geneticists impressed foreign scientists. “We consider it necessary to include Ukrainians into mankind’s genetic chronicle. It is the goal of our research to find out how their gene pool was formed. What is the gene pool’s structure? How diverse is it? What is the Ukrainians’ genetic lineage? What groups of our planet’s population are related to them? We must find answers to these questions. The originality of the Ukrainians’ genetic history should be properly reflected in the world’s overall genetic history,” project directors say.

As it was said above, the Genographic project is aimed at studying gene pools of indigenous populations in various parts of the globe. By indigenous population they mean the people who belong to one ethnic group and are not the product of interethnic marriages. Studying a gene pool begins with organizing expeditions to the areas where at least three last generations of the group being studied have resided. In this country, these are the areas populated by ethnic Ukrainians and not affected by intense migration.

How is the “genetic portrait” of a people drawn? During the expedition, researchers take samples of the venous [deoxygenated. – Ed.] blood of the men who have volunteered to take part in the study. Tests are only given to the people whose grandmothers and grandfathers belong to the given nation and who were born in the studied locality. Anthropogeneticists always work in contact with anthropologists, historians, archaeologists, linguists, and culture researchers. Before marking out the area of an expedition, one should study historical sources and find out how the local population was formed, what their ethnicity is, how long ago the settlement was established, if there are many migrants among its residents, etc. This allows singling out the groups in the examined population, which most fully reflect its history.

The object of the study is non-related over-18 males whose paternal and maternal grandparents were Ukrainian and hailed from the given area. Why not females? The cells of a male body have richer genetic information than those of a female body do: men, unlike women, also have the Y-chromosome, the chromosome that determines the male gender of a human being.

By studying a man’s hereditary material, the geneticist also receives information about his mother, sisters, and daughters.

A medic takes a 10-ml sample of venous blood from a project participant by means of certified sterile single-use syringes and vacuum test tubes that are used in European clinics. The collected samples are delivered to the laboratory, where DNA molecules are isolated. Isolating DNA is an expensive and painstaking thing to do, but this substance can then be kept frozen for many years and used for research purposes. A DNA genetic test also costs a lot, but every individual who took a blood test will get the results free of charge. Yet those who wish to take part in the project “Genographic” but are unable to meet the project’s participation criteria can apply for a DNA test to the project’s website www.nationalgeographic.com/ — genographic privately, so to speak. As we can see, the project prohibits any form of discrimination. It costs 200 dollars to trace your paternal and maternal lineages.

What is the link between a DNA molecule analysis and geographical information, i.e., between the blood sample taken from a specific man and the trajectory along which his ancestors moved over the globe? It is impossible to describe this in a newspaper article. But the main result is as follows: all the present-day human gene pools have one source. In other words, we can uncover the origins of mankind and the evolutionary process that has brought them to the current condition. This is, in brief, how the general problem of origin is solved — the origin of languages, species, and perhaps the material world itself.

Comparing the DNA of different people, geneticists can find out the extent to which they are linked genetically in the female or male line, and when these lines come apart. The earlier the two populations separate from one another, the more discrepancies in their genetic texts are accumulated. Comparing several populations, one can draw their genealogical tree and see on the world map the way our genes (and, hence, our ancestors) moved across the continents. Knowing the speed at which the DNA mutates when it passes from one generation to another, geneticists can calculate the time of people’s settlement on Earth and the degree of their relationships, as well as the place whence a certain people emerged.

Studying the DNA of different people, scientists have shown that all the variety of Y-chromosomes in modern-day people boils down to one source known as “genetic Adam,” and that of mitochondrial chromosomes to “mitochondrial Eve.” Those people lived in Africa. But it was not a married couple, as it may have seemed. Moreover, they were separated by tens of thousands of years. The ancestor of modern-day people was not one man and one woman but a group of people that numbered several hundred or, maybe, thousand of individuals, but the Y-chromosome of only one man has managed to reach us in the course of thousands of generations. The rest of the Y-chromosome lines were cut short — they were those of men who had no sons. Among the ancestral mitochondrial chromosomes, too, only one line has reached us. The rest ceased to exist with the women who had no daughters.

A modern DNA genetic test can provide information on what particularities of a genetic text the individual bears. Knowing this, one can not only find one’s origin and place in mankind’s lineage and trace the migration of one’s ancestors on the globe but also find (in the Internet) the bearers of the same genetic particularities — relatives of sorts. Therefore, modern genetics has shown that all the variety of living people’s genes emerged from one ancestral population. Why then do we look so different today? How did this diversity emerge? For if you take at random any two individuals, even if they belong to different races, their genetic texts will be 99.8 percent similar. This means only one out of 500 letters of the two persons’ genetic text will differ, while the remaining 499 will be the same. Why do we differ so much by color of skin, physique, character, and health if our hereditary materials are so similar? Geneticists cannot answer this question yet, but they are trying.

It is a hard job to be a populational anthropogeneticist. It is important not only to find suitable people but also to persuade them to take part in the research. Even if a suitable person has been found, it is sometimes difficult to talk him into donating blood for a DNA test. Bioethics principles demand that the participant be told about the nature and purpose of the study. After this he agrees in writing to donate his blood for a test. It may happen that a potential participant questions the foundations of the research. For example, you are telling him about the settlement of people on the globe, but he says: “And why on earth do you think man appeared in Africa?” And you have to hear a different viewpoint on this issue. We also faced the following problems. A DNA test is given anonymously, so the man is issued a card with a personal code by which he (and nobody else) can collect the result of his DNA test. Some people oppose coding and refuse to cooperate. Others consider it totally unacceptable to manipulate blood. All this hinders our work.

Organizing the research, we always rely on assistance from local authorities. We launched expeditions to the Zaporizhia, Sumy, Rivne, Zhytomyr, Chernivtsi, and Transcarpathian oblasts. The regional administration is aware of the importance of their population entering humankind’s genetic annals. Blood is sampled in medical establishments. Their directors have always helped us, which was essential for success.

The “Genographic” project research is done not only out of pure scientific interest. It is aimed at increasing the global community’s knowledge about indigenous populations and their cultures. Moreover, the funds we raise by fulfilling private requests (there tens of thousands of them now) are transferred to the Heritage foundation established as part of the project. The foundation renders financial support to the indigenous peoples that were the object of the study. The funds are intended to help preserve and develop traditional cultures, education, as well as to provide other assistance which many indigenous people in various nooks of the globe are in bad need of. On the whole, this will help to gradually solve one of the global problems of today — the preservation of humankind’s cultural variety.

Finally, about the project’s political importance, the metaphor of being in the same boat is quite applicable given that all of mankind’s survival is at stake. Popularizing the project “Genographic” and adequately explaining its results will help put across to the masses a scientifically proven truth, not a metaphor: WE ARE ALL BROTHERS AND SISTERS.

Liubov Atramentova is a professor at the Genetics and Cytology Department of Kharkiv-based Karazin National University