HUMAN GENETICS

1. Human Molecular Genetics Sector.

(1) Staff:

(2) Subject of Research:

Studies on variation of the mitochondrial and nuclear DNAs in Native Siberians, with special reference to their population and evolutionary history, and genetic relationships to Native Americans.

(3) General Results 1993-1995:

Issues and questions addressed in project.

To address long-standing problems such as the timing and origins of the Americans, the number of subsequent demic expansions across Beringia and/or northern Pacific rim, the chronology and routes of these expansions, and the sizes of the founding populations, we conducted a detailed genetic study of the mtDNA variation in indigenous of populations of Kamchatka and Chukotka.

Methodology.

In order to collect blood samples and genealogical information from well-selected tribal and territorial groups three field expeditions have been conducted. In total, 107 samples, representing two territorial Koryak groups, 79 samples representing two tribal groups of Siberian Eskimos, and 66 samples representing both Coast and Reindeer Chukchi have been analysed through high resolution restriction mapping. In addition, the D-loops from these mtDNAs are currently being sequenced. The resulting data have been analyzed with computer programs encompassing all aspects of population structure, genetic history and phylogenetic relationships, and affinities. In addition, these data were integrated with the other of Siberian data sets, and eventually were compared with those of eastern Asians and Native Americans.

The findings and implications.

The origin of the Koryak mtDNA lineages were defined by comparing their mtDNA haplotypes with those of the Evenki, Udegey and Nivkhs. The Koryaks of Kamchatka were found to have mtDNAs belonging to three of the four major haplotype groups (haplogroups) observed in northern Asian and Native American populations (A, C, and D), although at reduced frequencies relative to those in other eastern Siberian groups, and lacked deletion mtDNAs from the fourth, haplogroup B. Most of the Koryak mtDNAs belonged to haplogroups G and X, which were formerly called OTHER mtDNAs.
Haplotypes belonging to haplogroups other than A, C, and D, namely G, were found to be uncommon in the Reindeer Chukchi, rare in Coast Chukchi and absent in Siberian Eskimos. Whereas the ancestral Koryak population appears to be genetically related to both Evenki of the middle Siberia and Amur River/East Asian populations, the Chukchi and Eskimos of Chukotka peninsula show apparent genetic similarity with those occuring in northern North American Natives, thereby indicating direct genetic links of the Chukchi and Siberian Eskimos to the latest Beringian populations. Conversely, the bipartite genetic profile revealed in the Koryaks reflect the relatively recent dispersal of their ancestors into Kamchatka peninsula. It appears that diffusing extensively along Asiatic coasline of the Bering Sea, the expanding Koryaks absorbed small tribes of maritime hunters who lived in low population densities in northeastern Kamchatka.

(4) Publications:

  1. Sukernik R.I., Crawford M.H. (1993). Genetic Adaptation Studies in the Soviet Union: Malaise and Cure. In: Sigmon B. (Ed.) Before the wall fell. The science of man in socialist Europe. Canad, Scholar Press, Toronto. pp.55-72.
  2. Torroni A., Sukernik R.I., Schurr T.G., Starikovskaya Y.B., et al. (1993). Mitochondrial DNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am.J.Hum.Genet. 53:591-608.
  3. Neel J.V., Biggar R.J., Sukernik R.I. (1994). Virologic and genetic studies relate Amerind origins to the indigenous people of the Mongolia/ Manchuria/southeastern Siberia region. Proc.Natl.Acad.Sci. USA 91:10737-10741.
  4. Schurr T.G., Sukernik R.I., Starikovskaya Y.B., Wallace D.C. Mitochondrial DNA diversity in Koryaks: ancient and recent populations expansions in Okhotsk-Bering Sea region. Submitted to Am.J.Hum.Genet.
  5. Starikovskaya Y.B., Sukernik R.I., Schurr T.G., Wallace D.C. Mitochondrial DNA diversity in Chukchi and Siberian Eskimos: Implications for genetic history of ancient Beringia. In preparation.
  6. Blazhenka Y.K., Sukernik R.I., Raldugina O.V., Klein J. Studies on variation of HLA-genes of the II class in eastern Siberian indigenous populations. In preparation.
  7. McComb J., Blagitko N.E., Comuzzie A.G., Schanfield M.S., Sukernik R.I., et al. (1995). DNA Variation on Siberian Indigenous Populations. Human Biology 67.
  8. Sukernik R.I., Schurr T.G., Starikovskaya Y.B., Wallace D.C. Analysis of Mitochondrial DNA Variation in Indigenous Siberian Populations, with Special Reference to the Origins of Native Americans. Genetika (in press).
  9. Schurr T.G., Sukernik R.I., Starikovskaya Y.B., Panter-Brick C, Wallace D.C. Unique Asian oigins of the two primary mitochondrial DNA lineages possessing the region V 9-bp deletion. In preparation.

(5) Participation in State and International Programs:

(6) Subjects of Scientific Collaboration:

There are opportunities for additional international collaboration within the frames of above-mentioned project provided that potential conflicts of interest are excluded. All requests should be sent to Dr Rem I. Sukernik, to this Novosibirsk address.

2. Sector of Human Molecular and Evolutionary Genetics.

(1) Staff:

(2) Subject of Research:

Genetic variability, differentiation and molecular evolution of human populations in Siberia.

(3) General Results 1993-1995:

Some Siberian native populations - Northern Selkups, Tundra and Forest Nentsi, Altai-people, Evenks were involved in studies during 1993-1995. Results were obtained on genetic and demographic aspects based on estimates of the population size, the degree of admixture, migation flow, reproductive parameters, coefficient of inbreeding, genealogical data etc., and on population genetic aspects based on the studies of polymorphism with respect to blood groups, serum proteins, izozymes and immunoglobulin markers (Gm-system). Molecular genetic investigations are being carried out on immunoglobulin genes. Duplication of some immunoglobulin genes (GPG2) was first discovered. It may be considered as compensatory mechanism for previously founded deletions of genes IGHG1 and IGHG4. Molecular genetic investigations are being carried out on metachondrial DNA in some Siberian populations. Studies on estimation of risk atherosclerosis and cardio-vascular diseases in North Siberian natives was performed. A study of polymorphism with respect to HLA antigenes (in Northern Selkups) was carried out.

(4) Publications:

  1. Dubrova Yu.E., Karaphet T.M., Osipova L.P. (1993). Fertility and heterozygosity in the North Selkup. Genetika 29:1697-1701. (Rus.)
  2. Karaphet T.M., Osipova L.P. (1993). A population and genetic study of the Northern Altai aborigenes (Chelkanians and Kumandinians) as compared to the aborigenes of Northern Siberia. Altaica 3:34-39.
  3. Oteva E.A., Maslennikov A.B., Nikolaeva A.A., Osipova L.P., Evseeva O.I., Sterental I.Sh., Filimonova T.A., Pikovskaya N.B. (1993). Characteristic features of serum lipid composition in Northern Selcups. Terap. Archives 65:21-24. (Rus.)
  4. Lefranc M.-P., Wiebe V.P., Osipova L.P. and Lefranc G. (1993). IGHG1 deletions in Northwestern Siberian (Forest Nentzi and Sel'kup) populations. In: Abstracts to: Human Genome Mapping Workshop 93 (HGM 93). Kobe, Japan, November 14-17, 1993.
  5. Ivanova A.V., Voevoda M.I., Kazakovtseva M.A., Avksentyuk A.V., Astakhova T.I., Wiebe V.P., Karafet T.M., Osipova L.P., and Shields G.F. (1994). Restriction-deletion polymorphism of region Y of mitochondrial DNA in several populations of native inhabitants of Siberia and the Far East. Genetika 30:1525-1529. (Rus.)
  6. Osipova L.P. (1994). Genetic markers of immunoglobulins (Gm system) for estimation of migration and mixture processes in human populations of North Siberia. Siberian Journal of Ecology 2:119-130.
  7. Karaphet T.M., Posukh O.L., Osipova L.P. (1994). Population-genetic studies of North Siberian Natives. Siberian Journal of Ecology 2:105-118.
  8. Fefelova V.V., Osipova L.P., Yagotin V.A., Bronstein E.L. (1994). HLA antigens in Selkups. Siberian Journal of Ecology 2:131-138.
  9. Wiebe V., Helal A., Osipova L., Lefranc G., and Lefranc M.-P. (1994). Linkage of the IGHGP and IGHG2 genes in the human immunoglobulin heavy chain locus. In: Abstracts to: 26th annual meeting of "European Society of Human Genetics". Paris, France, June 1-5, 1994.
  10. Netesova I.G., Yaroslavtseva O.A., Dryga S.A., Posukh O.L., Osipova L.P., Bronstein Ye.L., Zaitsev S.A., Netesov S.V. (1995). The prevalence of markers of viral hepatitides A, B, and C in the population of the Northern territories of Western Siberia. Voprosy Virusologii N4:172-174. (Rus.)
  11. Osipova L.P., Posukh O.L., Ivakin E.A., Kryukov Yu.A., Karaphet T.M. (1995). Gene pool of indigenious inhabitants of Samburg Tundra. Genetika. (in press).
  12. Posukh O.L., Osipova L.P., Kryukov Yu.A., Ivakin E.A. (1995). Genetic-demographical analysis of population of indigenious inhabitants of Samburg Tundra. Genetika. 1995. (in press).

(5) Participation in State and International Programs:

(6) Subjects of Scientific Collaboration: