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The populations of the Arctic Ocean coast in Eastern Siberia (Russia) are represented by a multicultural conglomerate of peoples of different origins: Paleo-Asiatic (Chukchi), Uralic (Yukaghirs), Tungusic (Evenks, Evens), Turkic (Yakuts, Dolgans), and Slavic (Russian explorers), who inhabited this territory during various historical periods. However, among the modern Arctic populations there are still “white spots”, such as people of the small village of “Russkoe Ust’ye”, who still have not been thoroughly studied. The main population consists of so called Russian old-settlers—the Russkoustinians. They traditionally distinguish their lineages into three groups identified by their time of settlement. First are the “Pomors”—who according to their legends are considered as the descendants of the first European colonists of the Age of Discovery, who settled the eastern shores of the Arctic Ocean in the 16th century before the inclusion of this territory in the Russian Empire in the early 17th century. Second are the “Cossacks”—who reached the Arctic during explorations of Siberia. The last are the “Zashiversk”—who arrived after the abolition of their hometown. In order to test these hypotheses, we analyzed modern family name diversity based on information on 62 individuals from 36 questionnaires. The analysis revealed that the “Pomors” lineages were presented in five families (43.5%), the “Cossacks” in one family (6.5%), and the “Zashiversk” in 37.1% of families. This fact indicates a probability that this village was founded by Russian Pomors who arrived there by the Northern Sea Routes before the official East Siberian colonization period.

The mutations in the GJB2 gene are known to be a major cause of autosomal recessive deafness 1A (OMIM 220290). The most common pathogenic variants of the GJB2 gene have high ethno-geographic specificity in their distribution that being attributed to a founder effect related with Neolithic migration routes of Homo sapiens. Curiously, the c.-23+1G>A splice site variant is frequently found among deaf patients of both Caucasian and Asian origin. It is currently unknown whether this mutation did spread across Eurasia as a result of the founder effect or it could have multiple local centers of origin. To determine the origin of the c.-23+1G>A we reconstructed 𝑓2-haplotypes by genotyping SNPs on the Illumina OmniExpress 730K platform in 23 deaf individuals homozygous for this variant from different populations of Eurasia (Yakuts, Tuvinians, Evenk, Kumyk, Armenian, Russians and Slovak). The analysis revealed that the homozygosity regions in different individuals overlapped in one short region with the length of ~5.2 kb. These data support the hypothesis of the common founder effect in distribution of the c.-23+1G>A variant of GJB2 gene. Based on the published data on the c.-23+1G>A prevalence among 16,177 deaf people and calculation of TMRCA of the 𝑓2-haplotypes carrying this variant we reconstructed the potential migration routes of the c.-23+1G>A carriers around the world. This analysis indicates that the c.-23+1G>A variant may have originated approximately 6,000 years ago in the territory of the Caucasus or Middle East, followed by spread throughout Europe, South and Central Asia and other regions of the world.

Recent isotopic observations of animal samples indicate body accumulation of heavy zinc and light copper throughout life. This hypothesis has never been tested for humans, but the existence of a relationship between blood isotopic composition and age could be promising for age assessment methodologies. Dietary habits can also influence the blood zinc isotope composition, being an additional source of isotopic variation. In order to reduce this putative source of variation, we selected a population living in an isolated area (Sakha Republic, Russia) where diverse foods are of limited availability. We sampled blood from 8 male and 31 female Yakut volunteers between the ages of 18 and 74. Zinc, iron and copper were purified by liquid chromatography on ion exchange resin and their stable isotope ratios were measured using multiple-collector inductively coupled plasma mass spectrometry. According to observations of animal samples, the (66)Zn/(64)Zn ratio increases with age. We also observe that the (65)Cu/(63)Cu ratio decreases with age, whereas iron isotopic compositions are unrelated to age. The copper and zinc isotope compositions of the Yakut's blood are significantly lighter and heavier, respectively, than in samples of European and Japanese populations. The Yakut is a circumpolar population in which individuals have an elevated basal metabolic rate in response to cold stress. This elevated basal metabolic rate could enhance copper and zinc isotopic fractionation by accelerating the turnover of the copper and zinc stores.

In 2012, a seroprevalence survey concerning 10 zoonoses, which were bacterial (Lyme borreliosis and Q fever), parasitic (alveolar echinococcosis [AE] and cystic echinococcosis [CE], cysticercosis, toxoplasmosis, toxocariasis, and trichinellosis), or arboviral (tick-borne encephalitis and West Nile virus infection), was conducted among 77 adult volunteers inhabiting Suordakh and Tomtor Arctic villages in the Verkhoyansk area (Yakutia). Following serological testing by enzyme-linked immunosorbent assay and/or western blot, no positive result was found for cysticercosis, CE, toxocariasis, trichinellosis, and both arboviral zoonoses. Four subjects (5.2%) had anti-Toxoplasma IgG, without the presence of specific IgM. More importantly, eight subjects (10.4%) tested positive for Lyme borreliosis, two (2.6%) for recently acquired Q fever, and one (1.3%) for AE. Lyme infection and Q fever, whose presence had not been reported so far in Arctic Yakutia, appeared therefore to be a major health threat for people dwelling, sporting, or working in the Arctic area of the Sakha Republic.

Librado, Pablo et al., Yakutia is among the coldest regions in the Northern Hemisphere, showing ∼40% of its territory above the Arctic Circle. Native horses are particularly adapted to this environment, with body sizes and thick winter coats minimizing heat loss. We sequenced complete genomes of two ancient and nine present-day Yakutian horses to elucidate their evolutionary origins. We find that the contemporary population descends from domestic livestock, likely brought by early horse-riders who settled in the region a few centuries ago. The metabolic, anatomical, and physiological adaptations of these horses therefore emerged on very short evolutionary time scales. We show the relative importance of regulatory changes in the adaptive process and identify genes independently selected in cold-adapted human populations and woolly mammoths., This work was supported by the Danish Council for Independent Research, Natural Sciences (Grant 4002-00152B); the Danish National Research Foundation (Grant DNRF94); a Marie-Curie Career Integration grant (Grant FP7 CIG-293845); Initiative d'Excellence Chaires d'attractivité, Université de Toulouse (OURASI); and the International Research Group Program (Grant IRG14-08), Deanship of Scientific Research, King Saud University. P.L. was supported by a Villum Fonden Blokstipendier grant (primary investigator: L.O.); H.J. by a Marie-Curie Initial Training Network grant [EUROTAST (Exploring the History, Archeology, and New Genetics of the Transatlantic Slave Trade); Grant FP7 ITN-290344]; C.G. and L.E. by Marie-Curie Intra-European fellowships (FP7-IEF-328024 and FP7 IEF-302617); M. Schubert by a Lundbeck Foundation grant (Grant R52-A5062); M.A.Y. by a National Science Foundation Graduate Research fellowship; M.F. by a Human Frontier Science Program fellowship (LT000320/2014); A.A. by a Villum Fonden Blokstipendier grant; M. Schubert by an NIH grant (Grant R01-GM40282); and J.K. by the Academy of Finland (Grant 286040). Research work on the ancient Yakut population was supported by the French Archaeological Mission in Oriental Siberia (Ministry of Foreign and European Affairs, France), the North-Eastern Federal University (Yakutsk, Sakha Republic), and the Human Adaptation Program of the French Polar Institute Paul Emile Victor [HUMAD MAFSO (Missions Archéologiques Françaises en Sibérie Orientale) 1038].

This letter describes a distant lineage of the variola virus (the agent of smallpox) that was identified in a mummy found buried in the Siberian permafrost.

A seroepidemiology survey of nine zoonoses was carried out in 2007 on 90 healthy adult volunteers in Viljujsk, a northern city in the Republic of Sakha (Eastern Siberia). The seroprevalence of Lyme borreliosis was 3.3% by immunofluorescence. None of the subjects displayed a positive enzyme-linked immunosorbent assay/Western blot result for alveolar or cystic echinococcosis. The seroprevalence of toxocariasis by Western blot was 4.4%, and 8.9% of the subjects had anti-Toxoplasma IgG. By enzyme-linked immunosorbent assay, the seroprevalence of trichinellosis was 4.4%. Three subjects were simultaneously positive for tick-borne encephalitis and West Nile infection, so no clear diagnostic conclusion could be reached for these flavivirus diseases. Interestingly, Crimea-Congo hemorrhagic fever had an 11.1% seroprevalence rate, indicating that Viljujsk is the most northern focus of this infection. Additionally, this finding suggests a potential involvement of Crimea-Congo hemorrhagic fever agent, or of another member of the Bunyaviridae family, in the genesis of the so-called Viljujsk encephalomyelitis.

Haplotype and allele frequencies of 17 Y-chromosomal short tandem repeat (Y-STR) markers in a population sample of 133 Yakut male volunteers from two regions: Central (n = 41) and Western Yakutia (n = 92) were determined using the AmpFlSTR Yfiler PCR Amplification Kit (Applied Biosystems). A total of 65 haplotypes were identified in the Yakut population, with 15 haplotypes in Central sample and 54 haplotypes in Western sample. Haplotype diversity values of 0.79 and 0.96, and average gene diversity values of 0.14 and 0.41 were calculated for Central and Western samples, respectively. The Fst distances between both our Yakut populations with other Russian, Siberian and Chinese populations were represented by MDS plot. The graphical view demonstrated close distances between most Yakut populations and differences with other Siberian populations. Crown Copyright (C) 2010 Published by Elsevier Ireland Ltd. All rights reserved.

The Yakuts, Middle Age Turkic speakers (15th-16th centuries), are widely accepted as the first settlers of the Altai-Baikal area in eastern Siberia. They are supposed to have introduced horses and developed metallurgy in this geographic area during the 15th or 16th century A.D. The analysis of the Siberian grave of Pokrovsk, recently discovered near the Lena River (61 degrees 29' N) and dated by accelerator mass spectrometry from 2,400 to 2,200 years B.P., may provide new elements to test this hypothesis. The exceptional combination of various artifacts and the mitochondrial DNA data extracted from the bone remains of the Pokrovsk man might prove the existence of previous contacts between autochthonous hunters of Oriental Siberia and the nomadic horse breeders from the Altai-Baikal area (Mongolia and Buryatia). Indeed, the stone arrowhead and the harpoons relate this Pokrovsk man to the traditional hunters of the Taiga. Some artifacts made of horse bone and the pieces of armor, however, are related to the tribes of Mongolia and Buryatia of the Xiongnu period (3rd century B.C.). This affinity has been confirmed by the match of the mitochondrial haplotype of this subject with a woman of the Egyin Gol necropolis (Mongolia, 2nd/3rd century A.D.) as well as with two modern Buryats. This result allows us to postulate that contacts between southern steppe populations and Siberian tribes occurred before the 15th century.

International audience; The excavation of five frozen graves at the Sytygane Syhe and Istekh-Myrane burial sites (dated at 400 years old) in central Yakutia revealed five human skeletons belonging to the Yakut population. To investigate the origin and evolution of the Yakut population as well as the kinship system between individuals buried in these two sites, DNA was extracted from bone samples and analyzed by autosomal short tandem repeats (STRs) and by sequencing hypervariable region I (HV1) of the mitochondrial DNA (mtDNA) control region. The results showed a diversity of sepulchral organizations linked probably to the social or genetic background of the subjects. Comparison of STR profiles, mitochondrial haplotypes, and haplogroups with data from Eurasian populations indicated affinities with Asian populations and suggested a relative specificity and continuity of part of the Yakut mitochondrial gene pool during the last five centuries. Moreover, our results did not support a Central Asian (with the exception of maternal lineage of West Eurasian origin) or Siberian origin of the maternal lineages of these ancient Yakut subjects, implying an ethnogenesis of the Yakut population probably more complex than previously proposed.