0012-4966/03/1112- © 2003 MAIK “Nauka / Interperiodica” 0557 Doklady Biological Sciences, Vol. 393, 2003, pp. 557–561. Translated from Doklady Akademii Nauk, Vol. 393, No. 5, 2003, pp. 710–714. Original Russian Text Copyright © 2003 by Derenko, Malyarchuk, Dambueva, Zakharov. Studies of Siberians, i.e., indigenous populations of southern and eastern Siberia, are of considerable inter- est, because this region has been populated with humans since the Paleolithic Age. Besides, this region is geographically close to the hypothetical foci of the origin of the Mongoloid race and areas rich in paleoan- thropological material. In addition, the most ancient population of this region lives in the areas where the earliest significant contacts between Mongoloids and Caucasoids took place, which had a substantial impact on the formation of the race type in the major part of Eurasia and, probably, contributed to the migration that gave rise to the population of America. Although indig- enous populations of Siberia have been comprehen- sively described using methods of archeology, anthro- pology, history, ethnography, and classical genetics, almost no large-scale, integrated studies using DNA markers have been performed so far. To study the structure and diversity of the gene pools of the populations of southern Siberian popula- tions, we used methods based on the analysis of varia- tion of nucleotide sequences of the hypervariable seg- ment 1 (HVS 1) and restriction polymorphisms of mito- chondrial DNA (mtDNA), which determined the main monophyletic groups of mtDNA of Eurasian popula- tions. This methodological approach in combination with methods of phylogenetic analysis provides an opportunity to obtain comprehensive information about the structure of mitochondrial gene pools and to assess the evolutionary age of the main genetic components (monophyletic groups of DNA) [1, 2]. The mtDNA variation was analyzed in 480 subjects from seven indigenous groups of southern Siberian eth- nic groups (Fig. 1): Altaians, Khakassians, Tuvinians, Todjins, Tofalars, Sojots, and Buryats. The results of this analysis showed that the mitochondrial gene pools of the populations tested were characterized by differ- ent ratios between Mongoloid and Caucasoid lineages. The distribution of different groups of mtDNA in the populations studied in this work is shown in Table 1. As seen from Table 1, all populations were characterized by the dominance of the Mongoloid component. The maximum fraction of this component was observed in the gene pools of Tuvinians (88.8%), Todjins (91.9%), Buryats (92.4%), and Sojots (93.3%). More than half of the Mongoloid mtDNA lineages in each population studied in this work fell into different groups of the macrogroup M (M*, C, D, G, and Z). Groups C and D were found to be the most frequent in the populations of Siberians (from 34.6 to 66.7% of the mtDNA haplo- groups). Groups B, F, and G significantly contributed to the Mongoloid component of the populations studied in this work. High frequencies of these groups were observed earlier in different populations, mainly in east-central and eastern Asia [2–4]. A distinct Caucasoid component was observed in the populations of Altaians, Tofalars, and Khakassians (34.5, 20.7, and 18.9%, respectively). The minimum fraction of Caucasoid haplogroups (no more than 10%) was observed in Sojots, Buryats, and Todjins. The mito- chondrial haplogroups of the macrogroup R (H, J, T, and U) were dominant in the Caucasoid component of the populations studied in this work. The largest of them was haplogroup U including mtDNA types from subgroups K, U1, U2, U3, U4, and U5. Note that Alta- ians had almost all U-types of mtDNA haplogroups, subgroup U2 being represented in them by a unique lin- eage marked by variant 16214T. A similarly high diver- sity of mtDNA types was typical of haplogroups H and J, the maximum frequencies of which were observed in Tofalars (6.9 and 8.6%, respectively). The fact that human populations of southern Siberia are characterized by high lineage diversity within mito- chondrial haplogroups and subgroups can be regarded as evidence that these components of the gene pool are very ancient. For example, the Mongoloid haplogroups C and D contain the largest number of lineages repre- sented in various contemporary populations character- ized by star-like branching relative to central (ancestor) types of DNA (Fig. 2). These data can be regarded as evidence that diversity within these groups was formed GENERAL BIOLOGY Structure and Diversity of the Mitochondrial Gene Pools of South Siberians M. V. Derenko, B. A. Malyarchuk, I. K. Dambueva, and Corresponding Member of the RAS I. A. Zakharov Received July 8, 2003 Institute of Biological Problems of the Far North, Far East Division, Russian Academy of Sciences, ul. Karla Marksa 24, Magadan, 685000 Russia Institute of General and Experimental Biology, Siberian Division, Russian Academy of Sciences, Ulan-Ude, Russia Vavilov Institute of General Genetics, Russian Academy of Sciences, ul. Gubkina 3, Moscow, 117809 Russia