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Mitochondrial forms account approximately 1-2% of all nonsyndromic cases of hearing loss (HL). One of the most common causative variants of mtDNA is the m.1555A > G variant of the MT-RNR1 gene (OMIM 561000). Currently the detection of the m.1555A > G variant of the MT-RNR1 gene is not included in all research protocols. In this study this variant was screened among 165 patients with HL from the Republic of Buryatia, located in the Baikal Lake region of Russia. In our study, the total contribution of the m.1555A > G variant to the etiology of HL was 12.7% (21/165), while the update global prevalence of this variant is 1.8% (863/47,328). The m.1555A > G variant was notably more prevalent in Buryat (20.2%) than in Russian patients (1.3%). Mitogenome analysis in 14 unrelated Buryat families carrying the m.1555A > G variant revealed a predominant lineage: in 13 families, a cluster affiliated with sub-haplogroup A5b (92.9%) was identified, while one family had the D5a2a1 lineage (7.1%). In a Russian family with the m.1555A > G variant the lineage affiliated with sub-haplogroup F1a1d was found. Considering that more than 90% of Buryat families with the m.1555A > G variant belong to the single maternal lineage cluster we conclude that high prevalence of this variant in patients with HL in the Baikal Lake region can be attributed to a founder effect.

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INTRODUCTION: Tick-borne infections are of great importance for many regions of Russia, including Eastern Siberia. This unfavorable epidemiological situation can be characterized not only by the circulation of well-known tick-borne infections, but also by the identification of new pathogens, the role of which remains little or generally unexplored. Multicomponent flavi-like viruses can cause infectious diseases in humans and pose a threat to public health. The purpose of the study was the identification and molecular genetic characterization of the Alongshan virus (Flaviviridae, ALSV) isolates, transmitted by ticks in the south of Eastern Siberia. MATERIALS AND METHODS: Total 1060 ticks were collected and analyzed from the territory of the Republics of Khakassia, Tuva, Buryatia, Irkutsk Region and Transbaikal Territory (Zabaykalsky Krai) in the spring-summer period 2023. ALSV RNA was detected by RT-PCR followed by nucleotide sequence determination and phylogenetic analysis for each segment of the genome. RESULTS: The ALSV infection rate in Ixodes persulcatus ticks collected in the Republic of Khakassia was 3.3% (95% CI: 1.4-7.5); in Irkutsk Oblast - 1.0% (95% CI: 0.3-3.7); in the Republic of Tuva - 0.9% (95% CI: 0.3-3.4) and in Transbaikal Krai - 0.7% (95% CI: 0.2-3.6). Sequences of all four segments of ALSV genetic variants circulating in I. persulcatus ticks in the south of Eastern Siberia are grouped with sequences found in China and clustered into the Asian subgroup transmitted by taiga ticks. The level of difference in the nucleotide sequences of genome fragments among the identified genetic variants of ALSV ranged from 2 to 3%. CONCLUSION: The article shows the widespread distribution of ALSV in I. persulcatus ticks in the Republics of Khakassia and Tyva, Irkutsk Oblast and Transbaikal Territory. The obtained data actualize monitoring of changes in the area of distribution of potentially dangerous for humans flavi-like viruses and their vectors.

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In this study, we tested the skeletal human remains from the 18th - early 19th century Orthodox cemeteries in Irkutsk, Eastern Siberia, for tuberculosis-associated morphological alterations and Mycobacterium tuberculosis DNA. The morphologically studied bone collection included 591 individuals of mainly Caucasian origin. The molecular methods (IS6110-PCR and spoligotyping) suggested that at least four individuals (out of 15 TB-suspected, DNA-tested) were positive for the presence of M. tuberculosis DNA. All of them were males (3 maturus, 1 maturus senilis). Two of them date back to the second and third quarters of the 18th century, another to the last quarter of the 18th century, and the last one to the second half of the 19th century. The combined molecular analysis cautiously suggested presence of different strains and at least some of them represented not the currently predominant in Siberia Beijing genotype (M. tuberculosis East-Asian lineage) but strains of European origin. In conclusion, this study presented bioarchaeological and molecular evidence of tuberculosis in human skeletal remains from 18th-19th century Orthodox cemeteries in Irkutsk, Eastern Siberia. The samples are not M. bovis and represent human M. tuberculosis sensu stricto. Their precise phylogenetic identity is elusive but evokes the European/Russian origin of at least some isolates.

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The provenance study of archaeological materials is an important step in understanding the cultural and economic life of ancient human communities. One of the most popular approaches in provenance studies is to obtain the chemical composition of material and process it with chemometric methods. In this paper, we describe a combination of the total-reflection X-ray fluorescence (TXRF) method and chemometric techniques (PCA, k-means cluster analysis, and SVM) to study Neolithic ceramic samples from eastern Siberia (Baikal region). A database of ceramic samples was created and included 10 elements/indicators for classification by geographical origin and ornamentation type. This study shows that PCA cannot be used as the primary method for provenance purposes, but can show some patterns in the data. SVM and k-means cluster analysis classified most of the ceramic samples by archaeological site and type with high accuracy. The application of chemometric techniques also showed the similarity of some samples found at sites located close to each other. A database created and processed by SVM or k-means cluster analysis methods can be supplemented with new samples and automatically classified.

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Suspended particulate matter (SPM), polychlorinated biphenyls (PCBs), and organochlorine pesticides (OCP) were studied in the snow cover at urban and suburban localities in the Irkutsk region, Eastern Siberia for their temporal variations in 2009-2023, daily deposition fluxes (DDFs), and effects of some meteorological factors, as well as the effects of different technogenic activities in the industrial area of the former organochlorine enterprises of Usol'ekhimprom. SPM loads at both stations were found to be at a low level of pollution. The levels of HCB, α + γ-HCH, and ∑p,p'-DDX were lower than Russian maximum permissible levels (MPLs) in drinking water, groundwater, and surface water for household drinking and cultural purposes. The sums of all organochlorine compounds studied in snow were higher than the MPL in freshwater water bodies for fishery purposes. The levels of the DDFs of HCHs, DDTs, and heptachlorinated PCB decreased, di- and trichlorinated PCB levels increased, and HCB levels changed at a polynomial line during 2009-2023. The change in the relative composition of PCBs was found as a result of recultivation activities at the industrial area of the former organochlorine enterprise of Usol'ekhimprom. The air humidity and temperature are the key meteorological factors affecting the DDFs of PCBs and OCPs.

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Pathogenic variants in the SLC26A4, FOXI1, and KCNJ10 genes are associated with hearing loss (HL) and specific inner ear abnormalities (DFNB4). In the present study, phenotype analyses, including clinical data collection, computed tomography (CT), and audiometric examination, were performed on deaf individuals from the Sakha Republic of Russia (Eastern Siberia). In cases with cochleovestibular malformations, molecular genetic analysis of the coding regions of the SLC26A4, FOXI1, and KCNJ10 genes associated with DFNB4 was completed. In six of the 165 patients (3.6%), CT scans revealed an incomplete partition of the cochlea (IP-1 and IP-2), in isolation or combined with an enlarged vestibular aqueduct (EVA) anomaly. Sequencing of the SLC26A4, FOXI1, and KCNJ10 genes was performed in these six patients. In the SLC26A4 gene, we identified four variants, namely c.85G>C p.(Glu29Gln), c.757A>G p.(Ile253Val), c.2027T>A p.(Leu676Gln), and c.2089+1G>A (IVS18+1G>A), which are known as pathogenic, as well as c.441G>A p.(Met147Ile), reported previously as a variant with uncertain significance. Using the AlphaFold algorithm, we found in silico evidence of the pathogenicity of this variant. We did not find any causative variants in the FOXI1 and KCNJ10 genes, nor did we find any evidence of digenic inheritance associated with double heterozygosity for these genes with monoallelic SLC26A4 variants. The contribution of biallelic SLC26A4 variants in patients with IP-1, IP-2, IP-2+EVA, and isolated EVA was 66.7% (DFNB4 in three patients, Pendred syndrome in one patient). Seventy-five percent of SLC26A4-biallelic patients had severe or profound HL. The morphology of the inner ear anomalies demonstrated that, among SLC26A4-biallelic patients, all types of incomplete partition of the cochlea are possible, from IP-1 and IP-2, to a normal cochlea. However, the dominant type of anomaly was IP-2+EVA (50.0%). This finding is very important for cochlear implantation, since the IP-2 anomaly does not have an increased risk of "gushers" and recurrent meningitis.

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New excavations in the Tagay locality have revealed the presence of Amphilagus plicadentis Erbajeva, 2013, which belongs to the palaeolagine Lagomorpha rather than leporids, previously referred to Procaprolagus sp. (Logachev et al., 1964). Herein, we report a comprehensive morphological description of this species and compare it with the other known species of the genus Amphilagus. The Tagay lagomorph is conspecific with the Early Miocene species Amphilagus plicadentis found at locality Unkheltseg (UNCH-A) (biozone D; Early Miocene) in the Valley of Lakes, Central Mongolia. The Tagay specimens suggest a more advanced evolutionary stage of A. plicadentis and an age around Early/Middle Miocene transition. Supplementary Information: The online version contains supplementary material available at 10.1007/s12549-022-00554-y.

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Eastern Siberia during the Great Patriotic War, being in the deep rear, was one of the key regions where the population and industrial enterprises were evacuated from the front-line zones and west territories of the USSR. Among the arriving population, there were many highly qualified specialists who were sent along with enterprises to resume their work, which, on the one hand, gave preconditions for the development of the region, including as a major industrial and scientific center in the future, but also created an additional burden on the civil health care system of the region "in the moment." Eastern Siberia provided the USSR with healthy human and necessary production resources, making it possible for the Soviet Army to defend the Motherland, which was the main thing in those difficult years, in the face of the sudden invasion of Nazi Germany. The archival materials that give an idea of ​​the state of the civil health care system in the region by the beginning and in the first days of the Great Patriotic War are analyzed, and a comparative analysis of the indicators of both the Eastern Siberia region and its individual republics with the RSFSR as a whole is carried out. This study was carried out as part of the research work "State policy in the field of health protection and medical science in the Russian Empire and the USSR."

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In the XIX century, process of joining of the North-East lands to the Russian empire was completed. The syphilis that spread in XVIII-XIX centuries stroke indigenous population of the Eastern Siberia and out-migrants from other territories. The article attempts to highlight little-studied aspects of organization of syphilitic hospitals and medical care of newly come population and non-Russian communities in northern Okrugs of Yakutsk, Kamchatka and Primorye areas of Eastern Siberia. On the basis of archive materials, the investigation was applied to the most important components of organization of medical care of patients with syphilis: the organization of syphilitic hospitals, history of correspondence and decision-making on funding sources, building of yurts, choice of buildings for hospitals, delivery of medications, invitation and appointment of physicians, medical assistants and healers to assist population with medical care. The role of the Irkutsk Prikaz of Public Charity and the Irkutsk Medical Board in this process is noted. The establishment of syphilitic hospitals in outlying territories of Yakutia, Kamchatka and Primorye was the most important onset of struggle with syphilis epidemic in population.

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The article presents analysis of historical case of discussion about organization of anti-epidemic measures needed because of one-time arrival of large number of wounded and killed in consequence of counter-revolutionary mutiny in Irkutsk during defense of the White House country-house in December 1917. The problem of burial of fallen soldiers and Red Army men was determined during extraordinary session of the City Duma of Irkutsk with further publication of open letter to the Irkutsk Presidium of the Soviets. The well-reasoned positions expressed by physicians and engineers against burial of the killed in common grave on the banks of the Angara River received no support from the revolutionary government. The chronology of the decision taking had political character.

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Bird bones from the Late Pleistocene (31-24 kyr) Ikhine-2 site (Central Yakutia), one of the key Upper Paleolithic sites in northeastern Siberia, have first been studied. This is the northernmost and the oldest bird association in the Pleistocene of Eastern Siberia. Among the bone materials available, the coracoids of the extinct Dyuktai goose (Anser djuktaiensis) and the hooded crane (Grus monacha) are of particular interest. Dyuktai goose is a large representative of the mammoth fauna, originally described from younger deposits (12-13 kyr) in southeastern Yakutia. This is the second find of this species in Russia, which significantly expands our understanding of the geography and time of its distribution. The hooded crane, a rare modern species with a limited habitat area, has first been found in paleontological record. This find indicates the northern distribution of this species during the Late Pleistocene Karginian interstadial. Bones of Anas crecca and Larus canus have also been found at the site.

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Bacillus anthracis is a pathogenic bacterium, which causes anthrax disease. The ability of this bacterium to form spores, which can be preserved in soil for decades and cause outbreaks later on, makes this pathogen a serious problem for veterinary and health services of many countries. Siberia is one of the most anthrax-influenced regions of Russia. In this research we report on the results of genotyping based on whole genome SNP analysis of 15 strains, isolated on the territory of Eastern Siberia and the Far East in 1956-2018. In this research, we sequenced 15 genomes of B. anthracis strains isolated from infected humans and animals, and from soil samples from the territory of Eastern Siberia and the Far East in the period from 1956 to 2018. We used genomic sequences obtained in this study and 219 B. anthracis genomes available in the international GenBank database to perform a comparative analysis. As a result we detected 6400 chromosomal SNPs which allowed to differentiate the studied strains. We built phylogenetic reconstruction of the global B. anthracis population based on the detected SNPs using the Maximum Likelihood Method and described genetic diversity of the strains isolated on the territory of Eastern Siberia and the Far East. Strains, isolated on this territory from 1956 to 2018 belong to 5 different genetic groups: "Ames", "STI", "Tsiankovskii", "Siberia" and "Asia". The greatest diversity of the strains is registered for two regions of the southern part of Eastern Siberia - Tyva and Buryatia. This research expands current understanding of genetic diversity of B. anthracis strains circulating on the territory of Russia.

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The article presents the course of life and various activities of S. I. Mitskevich, public physician, participant of revolutionary movement, Soviet health care professional. He was author of "The Memoirs of Public Physician"/ Не also studied psychoneurosis in the Trans-Polar Lands and founded leprosy and municipal hospital in the city of Sredne-Kolymsk.

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We present the results of analysis of skin epidermis thickness in individuals with recessive mutation c.-23+1G>A in the GJB2 gene in comparison with individuals without this mutation living in Eastern Siberia (Yakut population). We examined 152 individuals with different genotypes by GJB2 gene mutation c.-23+1G>A. Homozygotes and heterozygotes by c.-23+1G>A have thicker epidermal layer (0.245 mm and 0.269 mm, respectively) in comparison with individuals without this mutation (0.193 mm) (p<0.05). The obtained data support the hypothesis about selective advantage of carriers of mutant GJB2 gene alleles and partly explain extremely high carrier frequency (10.3%) of c.-23+1G>A mutation in the GJB2 gene in Yakut population in Eastern Siberia.

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Waardenburg syndrome (WS) is an orphan genetic disease with autosomal dominant pattern of inheritance characterised by varying degrees of hearing loss accompanied by skin, hair and iris pigmentation abnormalities. Four types of WS differing in phenotypic characteristics are now described. We performed a Sanger sequencing of coding regions of genes PAX3, MITF, SOX10 and SNAI2 in the patient with WS from a Yakut family living in the Sakha Republic. No changes were found in the PAX3, SOX10 and SNAI2 coding regions while a previously reported heterozygous transition c.772C>T (p.Arg259*) in exon 8 of the MITF gene was found in this patient. This patient presents rare phenotype of WS type 2: congenital unilateral hearing loss, unilateral heterochromia of irises, and absence of skin/hair depigmentation and dystopia canthorum. Audiological variability in WS type 2, caused by the c.772C>T (p.Arg259*) variant in the MITF gene, outlines the importance of molecular analysis and careful genotype-phenotype comparisons in order to optimally inform patients about the risk of hearing loss. The results of this study confirm the association of pathogenic variants in the MITF gene with WS type 2 and expanded data on the variability of audiological features of the WS.

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Associations of various invertebrate species with bryozoans and sponges are a well-known marine phenomenon but such epizooic communities are far less diverse in freshwater environments. Here an occurrence of numerous leeches Alboglossiphoniacf.papillosa (Braun, 1805), in interstitial spaces between zooids of a colony of the freshwater bryozoan species Plumatellaaff.fungosa (Pallas, 1768) in Eastern Siberia is described. To the best of our knowledge, this record appears to be the first known example of a leech-bryozoan association, although such relationships deserve further research.

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Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinical evaluation (CT and MR-imaging, audiological and stabilometric examinations) of available members of this family revealed both already known (mixed progressive hearing loss) and additional (enlargement of semicircular canals and postural disorders) clinical DFNX2 features in affected males with c.975G>A (p.Trp325*). Moreover, mild enlargement of semicircular canals, postural abnormalities and different types of hearing thresholds were found in female carrier of this POU3F4-variant.

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We present a complete sequence and an annotation of the mitochondrial genome of the woolly mammoth (Mammuthus primigenius) found in 2012 on Maly Lyakhovsky Island (North-Eastern Siberia, Russia). The genome was 16,851 bp long and contained 13 protein-coding, 22 tRNA, and 2 rRNA genes. It was AT reach (61.3%) with A = 32.9%, T = 28.4%, C = 25.3%, and G = 13.4%.

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Tick-borne encephalitis virus (TBEV) is divided into three subtypes: European (TBEV-Eu), Siberian (TBEV-Sib), and Far Eastern (TBEV-FE) subtypes. The geographical range of TBEV-Eu dominates in Europe, but this subtype is present focally across the whole non-tropical forested Eurasian belt, through Russia to South Korea. However, the TBEV-Eu strains isolated outside Europe remain poorly characterized. In this study, full-genome sequences of eight TBEV-Eu isolates were determined. These strains were isolated from Ixodes persulcatus ticks, long-tailed ground squirrel (Spermophilus undulatus), and human blood in the natural foci of Western and Eastern Siberia, Russia. A phylogenetic analysis of all available TBEV-Eu genomic sequences revealed that strains from Siberia were closely related to other strains from Europe and South Korea. The closest relation was identified between the Siberian strains and strains from Zmeinogorsk (Western Siberia, Russia) and strain Absettarov (Karelia, Russia), and were most divergent from strains from the Czech Republic and Norway. TBEV-Eu strains isolated in Eastern Siberia were more closely related phylogenetically to strains from South Korea, but strains from Western Siberia grouped together with the strains from Europe, suggesting two genetic TBEV-Eu lineages present in Siberia.

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Karyotype studies of common shrews in the vicinity of Lake Baikal (Irkutsk Region, Eastern Siberia) resulted in the description of two new chromosomal races of Sorex araneus Linnaeus, 1758 (Lypotyphla, Mammalia), additional to 5 races formerly found in Siberia. In the karyotypes of 12 specimens from 3 locations, the polymorphism of metacentric and acrocentric chromosomes of the Robertsonian type was recorded and two distinct groups of karyotypes interpreted as the chromosomal races were revealed. They are geographically distant and described under the racial names Irkutsk (Ir) and Zima (Zi). Karyotypes of both races were characterized by species-specific (the same for all 74 races known so far) metacentric autosomes af, bc, tu and jl, and the typical sex chromosome system - XX/XY1Y2. The race-specific arm chromosome combinations include three metacentrics and four acrocentrics in the Irkutsk race (gk, hi, nq, m, o, p, r) and four metacentrics and two acrocentrics in the Zima race (gm, hi, ko, nq, p, r). Within the races, individuals with polymorphic chromosomes were detected (g/m, k/o, n/q, p/r). The presence of the specific metacentric gk allowed us to include the Irkutsk race into the Siberian Karyotypic Group (SKG), distributed in surrounding regions. The Zima race karyotype contained two metacentrics, gm and ko, which have been never found in the Siberian part of the species range, but appear as the common feature of chromosomal races belonging to the West European Karyotypic Group (WEKG). Moreover, the metacentrics of that karyotype are almost identical to the Åkarp race (except the heterozygous pair p/r) locally found in the southern Sweden. One of two Siberian races described here for the first time, the Zima race, occurs in an area considerably distant from Europe and shares the common metacentrics (gm, hi, ko) with races included in WEKG. This fact may support a hypothesis of independent formation of identical arm chromosome combinations due to occurrence of the same centric fusions in different parts of the species range.