Genome-wide sequence analyses of ethnic populations across Russia

The Russian Federation is the largest and one of the most ethnically diverse countries in the world, however no centralized reference database of genetic variation exists to date. Such data are crucial for medical genetics and essential for studying population history. The Genome Russia Project aims at filling this gap by performing whole genome sequencing and analysis of peoples of the Russian Federation. Here we report the characterization of genome-wide variation of 264 healthy adults, including 60 newly sequenced samples. People of Russia carry known and novel genetic variants of adaptive, clinical and functional consequence that in many cases show allele frequency divergence from neighboring populations. Population genetics analyses revealed six phylogeographic partitions among indigenous ethnicities corresponding to their geographic locales. This study presents a characterization of population-specific genomic variation in Russia with results important for medical genetics and for understanding the dynamic population history of the world's largest country

Investigating the prehistory of Tungusic peoples of Siberia and the Amur-Ussuri region with complete mtDNA genome sequences and Y-chromosomal markers.

Evenks and Evens, Tungusic-speaking reindeer herders and hunter-gatherers, are spread over a wide area of northern Asia, whereas their linguistic relatives the Udegey, sedentary fishermen and hunter-gatherers, are settled to the south of the lower Amur River. The prehistory and relationships of these Tungusic peoples are as yet poorly investigated, especially with respect to their interactions with neighbouring populations. In this study, we analyse over 500 complete mtDNA genome sequences from nine different Evenk and even subgroups as well as their geographic neighbours from Siberia and their linguistic relatives the Udegey from the Amur-Ussuri region in order to investigate the prehistory of the Tungusic populations. These data are supplemented with analyses of Y-chromosomal haplogroups and STR haplotypes in the Evenks, Evens, and neighbouring Siberian populations. We demonstrate that whereas the North Tungusic Evenks and Evens show evidence of shared ancestry both in the maternal and in the paternal line, this signal has been attenuated by genetic drift and differential gene flow with neighbouring populations, with isolation by distance further shaping the maternal genepool of the Evens. The Udegey, in contrast, appear quite divergent from their linguistic relatives in the maternal line, with a mtDNA haplogroup composition characteristic of populations of the Amur-Ussuri region. Nevertheless, they show affinities with the Evenks, indicating that they might be the result of admixture between local Amur-Ussuri populations and Tungusic populations from the north

Neuroimaging in chronic Viliuisk encephalomyelitis (VE).

<p>(<b>A,B</b>) Representative magnetic resonance imaging (MRI) of mild (<b>A</b>) and severe (<b>B</b>) chronic VE showing severity-dependent enlargement of the lateral and third ventricles. Shown are transaxial FLAIR, coronar T1w and sagittal T2w images demonstrating ventricular enlargement including the 3^rd ventricle, periventricular hyperintense signal, thinning of the corpus callosum, but normal cortical and infratentorial structures. The extent of these changes correlated to disease severity. (<b>C</b>) Semi-quantitative measurement of ventricular volume in VE patients compared to Yakutian and age- and sex-matched Caucasian controls (see Supporting Information online for technical details). As an estimate of ventricular volumes, the sums of normalized ventricular areas from all slices showing ventricles obtained with a standardized acquisition protocol are displayed (bars and crosses are mean values ± SD). # indicates <i>P<</i>0.0001 when compared to all other groups (ANOVA with post-hoc <i>t</i>-test including Bonferroni correction). (<b>D</b>) Representative pneumoencephalography of subacute VE showing ventricular enlargement (arrows indicate enlarged “bloated” lateral ventricles) and absent air filling of the subarachnoidal spaces of the hemispheric convexities (arrowheads indicate the stops of air filling), suggestive for arachnoideal adhesions.</p

Neuropathology in subacute Viliuisk encephalomyelitis (VE).

<p>(<b>A</b>) Representative brain histology microphotograph for all three available VE brain samples showed massive intraparenchymal and meningeal infiltrations (Giemsa and DAPI staining confirmed, not shown). (<b>B</b>) Anti-ECP immunohistochemistry proved increased appearance of eosinophilic leucocytes. Scale bar, 100 µm.</p

Schematic map of the Republic of Sakha marking the places of origin of studies subjects.

<p>Closed symbols represent chronic VE patients, open symbols indicate controls (refer to text for details), red symbols mark cities/villages.</p

MJ-network of mtDNA haplogroup C4a.

<p>The North Tungusic haplotypes are coloured by population (Evenks and Evens) rather than subgroup. The size of the nodes is proportional to the number of individuals carrying that node, and the number of mutations is indicated along the branches. The labelled subhaplogroups are discussed in the text.</p