Genetics

Personnel

Head of the Laboratory – Malyarchuk Boris Arkadyevich, Dr. of Biology ( This email address is being protected from spambots. You need JavaScript enabled to view it. )

Principal Researcher – Derenko Miroslava Vasilyevna, Dr. of Biology ( This email address is being protected from spambots. You need JavaScript enabled to view it. )

Senior Researcher –Denisova Galina Alekseevna, Cand. of Biology (PhD) ( This email address is being protected from spambots. You need JavaScript enabled to view it. )

Researcher – Petrovskaya Anna Valeryevna ( This email address is being protected from spambots. You need JavaScript enabled to view it. )

Junior Researcher - Litvinov Andrey Nikolaevich

Senior Technical  Assistant – Sergeyeva Irina Iosifovna ( This email address is being protected from spambots. You need JavaScript enabled to view it. )

The laboratory was organized in 1976.

Major trends of research

  • Study of the structure and diversity of gene pools of human populations.
  • Molecular phylogeography of human populations and reconstruction of ethnic history in Northern Eurasia.
  • Studying the mechanisms of mutations in animal mitochondrial genome.
  • Identifying evolutionary active regions in the human genome.
  • Population and evolutionary genetics and molecular systematics of animals in Northern Eurasia.

At the present time, methodological toolkit of the laboratory is represented by wide spectrum of the modern molecular genetic methods, including DNA sequencing (both short specific DNA fragments and the whole mitochondrial genomes); multilocus genotyping of microsatellite repeats; restriction endonuclease analysis of PCR-amplified DNA fragments. Studies of structure and diversity of gene pools are based on analyses of polymorphism of mitochondrial DNA (mtDNA) and non-recombining part of Y-chromosome, polymorphism of microsatellite loci and nuclear DNA genes. Laboratory participates in international research projects aimed at studies of genome-wide polymorphism in human populations on the basis of multilocus genotyping and complete genome sequencing platforms.  

 

Main Research Achievements of the Laboratory 

  • On the basis of data on variability of two highly polymorphic genetic systems (mtDNA and Y-chromosome) gene pools of various ethnic groups from Northern Eurasia (Siberia, Central and Eastern Asia, Iran and Europe) were characterized in detail.
  • Molecular genetic data obtained are used for studying the formation of ethnic groups, as well as for reconstruction of peopling of Eurasia, starting from the Upper Palaeolithic. It has been found that the formation of ethnic groups in Northern Asia took place on the basis of heterogeneous genetic substratum represented both by East Eurasian and West Asian DNA lineages. A detailed screening of mtDNA markers in populations of Northern Asia allowed us to discover mitochondrial lineages, which are peculiar to aboriginal populations of America, in South Siberian populations, such as Altaians, Buryats, and Tuvinians. A conclusion has been drawn about participation of prehistoric populations of the Altai-Sayan and Baikal regions in peopling of America.
  • Based on mtDNA variation data in European populations, a suggestion about Central European origin of ancestors of modern Eastern Slavs and about significant role of inter-ethnic hybridization and assimilation in ethnic history of Russians has been made. For the first time, phylogeographic analysis of Russian populations inhabiting European part of Russia has been carried out. A three-zonal structure of ethnic area of Russians and different (the Slavic, mixed and pre-Slavic, i.e. presumably Finno-Ugric) origin of populations inhabiting these zones has been revealed.
  • Combination of methods of phylogenetic analysis and bioinformatics allowed us to demonstrate that the most probable mechanism of mutation in the major non-coding region of human mtDNA is a dislocation mutagenesis associated with mitochondrial genome replication.
  • On the basis of mtDNA polymorphism data, genetic diversity both of modern animal populations inhabiting North-East Asia (such as Arctic salmons, zoarcoid fishes, the Siberian salamanders, martens) and extinct animals (mammoth) has been estimated, and molecular taxonomic analysis has been performed in groups referred to above. Nucleotide sequences of complete mitochondrial genomes of mammoth, the Schrenck salamander and the European pine marten were determined for the first time. Complete mtDNA variability in the Siberian salamander and the sable has been studied at the population level.
  • Adaptive evolution signals have been detected in mtDNA genes both in ethno-regional groups of humans and the whole genus Homo, as well as in mitochondrial genes of the Hynobiidae salamanders and the martens (subgenus Martes). Analysis of polymorphism at more than 730 thousands single nucleotide positions of nuclear genome (platform Illumina OmniExpress) in aboriginal peoples of Northern Asia has allowed us to reveal the molecular signatures of adaptation in a number of genes involved in metabolic pathways associated with energy regulation and thermogenesis, smooth muscle contraction, regulation of blood pressure and oxidative stress. These mechanisms can be associated with long-term adaptation of aboriginal Siberians to cold and other unfavorable environmental factors.  

Scientific researches were supported by different state programs and funds, such as state scientific and technical programs “Priority Directions in Genetics”, “Biological diversity”, Russian Foundation for Basic Research, Federal Target Scientific and Technical Program “Research and development of forwards priority trends of science and technology of 2002-2004”, Far East Branch of Russian Academy of Sciences and the Program of Fundamental Studies of Russian Academy of Sciences "Dynamics of Plant, Animal, and Human Gene Pools" and “Living Nature: Modern State and Problems of Development”.

Scientific research projects are conducted jointly with Institute of General Genetics RAS (Moscow), Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences (Novosibirsk), Kopernik University (Bydgoszcz, Poland), Estonian Biocentre (Tartu, Estonia), University of Cambridge (UK).

During the existence of the laboratory 3 doctorate and 8 candidate theses were defended; over 200 research papers were published. For the best publications in scientific journals, researchers of the laboratory were awarded the Prizes established by International Academic Publishing Company “Nauka/ Interperiodica” (B.A. Malyarchuk – 1996, Radchenko O.A. – 2006, Radchenko O.A. & Petrovskaya A.V – 2010), the Academia Europaea (B.A. Malyarchuk – 1997), Russian Science Support Foundation (B.A. Malyarchuk – 2006), and by the Gold Medal of Russian Academy of Sciences for a series of articles “Molecular phylogeography of peoples of Northern Eurasia” (M.V. Derenko – 2003). The Prizes of the Russian Foundation for Basic Research were awarded to M.V. Derenko & B.A. Malyarchuk (1999, 2002) for the best popular scientific papers.

 

Main publications

Books

Radchenko O.A. 2005. Variability of mitochondrial DNA of chars belonging to Salvelinus genus. Magadan: NESC FEB RAS. 153 p.

Derenko M.V., Malyarchuk B.A. 2010. Molecular phylogeography of human populations of Northern Asia based on mitochondrial DNA variability data. Magadan: NESC FEB RAS. 376 p.

 

Selected Papers

Derenko M.V., Grzybowski T.,  Malyarchuk B.A., Czarny J., Miscicka-Sliwka D, Zakharov I.A. 2001. The presence of mitochondrial haplogroup X in Altaians from South Siberia // American Journal of Human Genetics. V. 69. P. 237-241.

Derenko M.V., Grzybowski T., Malyarchuk B.A., Dambueva I.K., Denisova G.A., Czarny J., Dorzhu Ch.M., Kakpakov V.T., Miscicka-Sliwka D., Wozniak M., Zakharov I.A. 2003. Diversity of mitochondrial DNA lineages in South Siberia // Annals of Human Genetics. V. 67. P. 391-411.

Derenko M., Malyarchuk B., Grzybowski T., Denisova G.A., Dambueva I., Perkova M., Dorzhu C., Luzina F., Lee H.K., Vanecek T., Villems R., Zakharov I. 2007. Phylogeographic analysis of mitochondrial DNA in North Asian populations // American Journal of Human Genetics. V. 81. N. 5. P. 1025-1041.

Derenko M., Malyarchuk B., Grzybowski T., Denisova G., Rogalla U., Perkova M., Dambueva I., Zakharov I. 2010. Origin and post-glacial dispersal of mitochondrial DNA haplogroups C and D in northern Asia // PLoS ONE. V. 5. Issue 12. e15214.

Derenko M., Malyarchuk B., Denisova G., Perkova M., Rogalla U., Grzybowski T., Khusnutdinova E., Dambueva I., Zakharov I. 2012. Complete mitochondrial DNA analysis of eastern Eurasian haplogroups rarely found in populations of Northern Asia and Eastern Europe // PLoS ONE. V. 7. Issue 2. e32179.

Li B., Malyarchuk B., Ma Z., Derenko M., Zhao J., Zhou X. 2013. Phylogeography of sable (Martes zibellina L. 1758) in the southeast portion of its range based on mitochondrial DNA variation: highlighting the evolutionary history of the sable // Acta Theriologica. V. 58. P. 139-148.

Loogvali E.-L., Roostalu U., Malyarchuk B.A., Derenko M.V., Kivisild T., Metspalu E., Tambets K., Reidla M., Tolk H.-V., Parik J., Pennarun E., Laos S., Lunkina A. et al. 2004. Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia // Molecular Biology and Evolution. V. 21. N. 11. P. 2012-2021.

Malyarchuk B.A ., Rogozin I.B ., Berikov V.B ., Derenko M.V. 2002. Analysis of phylogenetically reconstructed mutational spectra in human mitochondrial DNA control region // Human Genetics. V. 111. N. 1. P. 46-53.

Malyarchuk B., Derenko M., Grzybowski T., Lunkina A., Czarny J., Rychkov S., Morozova I., Denisova G., Miscicka-Sliwka D. 2004. Differentiation of mitochondrial DNA and Y chromosome in Russian populations // Human Biology. V. 76. N. 6. P. 877-900.

Malyarchuk B.A., Rogozin I.B. 2004. Mutagenesis by transient misalignment in human mitochondrial DNA control region // Annals of Human Genetics. V. 68. P. 324-339.

Malyarchuk B.A., Grzybowski T., Derenko M., Perkova M., Vanecek T., Lazur J., Gomolcak P., Tsybovsky I. 2008. Mitochondrial DNA phylogeny in Eastern and Western Slavs // Molecular Biology and Evolution. V. 25. N. 8. P. 1651-1658.

 Malyarchuk B.A., Derenko M.V., Perkova M.A., Grzybowski T., Vanecek T., Lazur J. 2008. Reconstructing the phylogeny of African mitochondrial DNA lineages in Slavs // European Journal of Human Genetics. V. 16. N. 9. P. 1091-1096.

Malyarchuk B., Derenko M., Denisova G., Kravtsova O. 2010. Mitogenomic diversity in Tatars from the Volga-Ural region of Russia // Molecular Biology and Evolution. V.27. Issue 10. P. 2220-2226.

Malyarchuk B., Derenko M., Berman D., Perkova M., Grzybowski T., Lejrikh A., Bulakhova N. 2010. Phylogeography and molecular adaptation of Siberian Salamander Salamandrella keyserlingii based on mitochondrial DNA variability // Molecular Phylogenetics and Evolution. V. 56. P. 562-571.

Malyarchuk B., Derenko M., Grzybowski T., Perkova M., Rogalla U., Vanecek T., Tsybovsky I. 2010. The peopling of Europe from the mitochondrial haplogroup U5 perspective // PLoS ONE. V. 5. Issue 4. e10285.

Malyarchuk B., Derenko M., Denisova G., Wozniak M., Grzybowski T., Dambueva I., Zakharov I. 2010. Phylogeography of the Y-chromosome haplogroup C in northern Eurasia // Annals of Human Genetics. V. 74. P. 539-546.

Malyarchuk B., Derenko M., Denisova G., Maksimov A., Wozniak M., Grzybowski T., Dambueva I., Zakharov I. 2011. Ancient links between Siberians and Native Americans revealed by subtyping the Y chromosome haplogroup Q1a // Journal of Human Genetics. V. 56. P. 583-588.

Malyarchuk B., Derenko M., Denisova G. 2013. Phylogeny and genetic history of the Siberian salamander (Salamandrella keyserlingii, Dybowski, 1870) inferred from complete mitochondrial genomes // Molecular Phylogenetics and Evolution. V. 67. P. 348-357.

Mielnik-Sikorska M., Daca P., Malyarchuk B., Derenko M., Skonieczna K., Perkova M., Dobosz T., Grzybowski T. 2013. The history of Slavs inferred from complete mitochondrial genome sequences // PLoS ONE. V. 8. Issue 1. e54360.

Reidla M., Kivisild T., Metspalu E., Kaldma K., Tambets K., Tolk H.-V., Parik J., Loogvali E.-L., Derenko M., Malyarchuk B. et al. 2003. Origin and diffusion of mtDNA haplogroup X // American Journal of Human Genetics. V. 73. P. 1178-1190.

Rogaev E.I., Moliaka Y.K., Malyarchuk B.A., Kondrashov F.A., Derenko M.V., Chumakov I., Grigorenko A.P. 2006. Complete mitochondrial genome and phylogeny of Pleistocene mammoth Mammuthus primigenius // PLoS Biology. V. 4. Issue 3. e73.

Rogozin I.B., Malyarchuk B.A., Pavlov Y.I., Milanesi L. 2005. From context-dependence of mutations to molecular mechanisms of mutagenesis // Pacific Symposium on Biocomputing. (eds. Altman R.B., Dunker A.K., Hunter L., Jung T.A., Klein T.E.), World Scientific, Singapore. P. 409-420.

Rotskaya U.N., Rogozin I.B., Vasyunina E.A., Malyarchuk B.A., Nevinsky G.A., Sinitsyna O.I. 2010. High frequency of somatic mutations in rat liver mitochondrial DNA // Mutation Research. V. 685. N. 1-2. P. 97-102.

Skonieczna K., Malyarchuk B.A., Grzybowski T. 2012. The landscape of mitochondrial DNA variation in human colorectal cancer on the background of phylogenetic knowledge // Biochimica et Biophysica Acta. V. 1825. Issue 2. P. 153-159.

Contacts

Tel.: (4132)631164.