Olga L. Posukh
A5019652239- Hearing, Cochlea, Tinnitus, Genetics
- Connexins and lens biology
- Forensic and Genetic Research
- Vestibular and auditory disorders
- Yersinia bacterium, plague, ectoparasites research
- Indigenous Studies and Ecology
- Genetic diversity and population structure
- Ear Surgery and Otitis Media
- Neuroscience of respiration and sleep
- Nicotinic Acetylcholine Receptors Study
- Human Health and Disease
- Race, Genetics, and Society
- Hearing Impairment and Communication
- RNA regulation and disease
- Hepatitis B Virus Studies
- Hepatitis C virus research
- Nutrition, Genetics, and Disease
- Chromosomal and Genetic Variations
- Healthcare Systems and Public Health
- Discourse Analysis and Cultural Communication
- Pediatric health and respiratory diseases
- Cancer-related molecular mechanisms research
- Genomics and Phylogenetic Studies
- melanin and skin pigmentation
- RNA modifications and cancer
Novosibirsk State University
2015-2025
Institute of Cytology and Genetics
2015-2025
Siberian Branch of the Russian Academy of Sciences
2015-2025
Russian Academy of Sciences
1999-2014
Research Institute of Medical Problems of the North
1990
How and when the Americas were populated remains contentious. Using ancient modern genome-wide data, we found that ancestors of all present-day Native Americans, including Athabascans Amerindians, entered as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) after more an 8000-year isolation period in Beringia. After their arrival to Americas, ancestral Americans diversified into two basal genetic branches around 13 ka, one is now dispersed across North South...
Duplications and deletions in the human genome can lead to variation copy number for genes genomic loci among humans. Such variants reveal evolutionary patterns have implications health. Sudmant et al. examined copy-number across 236 individual genomes from 125 populations. Deletions were under more selection, whereas duplications showed population-specific structure. Interestingly, Oceanic populations retain large postulated originated an ancient Denisovan lineage. Science , this issue...
Five polymorphisms involving two paternally inherited loci were surveyed in 38 world populations (n = 1,631) to investigate the origins of Native Americans. One six Y chromosome combination haplotypes (1T) was found at relatively high frequencies (17.8–75.0%) nine American 206) representing three major linguistic divisions New World. Overall, these data do not support Greenberg et al. (1986) tripartite model for early peopling Americas. The 1T haplotype also discovered a low frequency...
We sequenced genomes from a ∼7,000 year old early farmer Stuttgart in Germany, an ∼8,000 hunter-gatherer Luxembourg, and seven hunter-gatherers southern Sweden. analyzed these data together with other ancient 2,345 contemporary humans to show that the great majority of present-day Europeans derive at least three highly differentiated populations: West European Hunter-Gatherers (WHG), who contributed ancestry all but not Near Easterners; Ancient North Eurasians (ANE), were most closely...
We studied the molecular basis of NSHL in Republic Altai (South Siberia, Russia). The Altaians are indigenous Asian population Mountain region considered as a melting-pot and dispersion center for world-wide human expansions past. A total 76 patients Altaian, Russian or mixed ethnicity 130 Altaian controls were analyzed by PCR-DHPLC sequencing GJB2 gene. GJB6 deletion common non-syndromic deafness-causing mitochondrial mutations also tested when appropriate. 8.3% chromosomes carrying versus...
The large scale genome wide association studies (GWAS) have identified approximately 80 single nucleotide polymorphisms (SNPs) conferring susceptibility to type 2 diabetes (T2D). However, most of these loci not been replicated in diverse populations and much genetic heterogeneity has observed across ethnic groups. We tested 28 SNPs previously found be associated with T2D by GWAS a Mongolian sample Northern China (497 diagnosed 469 controls) for related quantitative traits. 11 SNPs, namely,...
In silico predictive software allows assessing the effect of amino acid substitutions on structure or function a protein without conducting functional studies. The accuracy in pathogenicity prediction tools has not been previously assessed for variants associated with autosomal recessive deafness 1A (DFNB1A). Here, we identify most accurate clinical significance predictions missense GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) connexin genes DFNB1A. To evaluate selected (SIFT, FATHMM,...
Pathogenic variants in the SLC26A4 gene (OMIM #605646), leading to non-syndromic recessive hearing loss type 4 (DFNB4) and Pendred syndrome, significantly contribute etiology of many populations world. The spectrum prevalence different pathogenic are characterized by wide ethno-geographical variability. A high frequency some them certain regions world may indicate either their independent origin or be a consequence founder effect. proportion SLC26A4-associated Tuvinian patients (the Tyva...
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic have been identified gene. Spectrum and frequencies gene vary significantly among different ethnic groups worldwide. Until now, spectrum frequency pathogenic exon 1, 2 flanking intronic regions not described thoroughly Sakha Republic (Yakutia), which is located subarctic region Russia. The complete sequencing non-coding coding was performed 393 patients...
Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation region-specific landscapes hereditary important for local healthcare medical genetic services. Mutations in SLC26A4 gene leading nonsyndromic recessive deafness (DFNB4) Pendred syndrome are common causes HL, at least some Asian populations. We present first time results a thorough analysis by Sanger sequencing...
Hearing loss (HL) is one of the most common sensorineural disorders and several dozen genes contribute to its pathogenesis. Establishing a genetic diagnosis HL great importance for clinical evaluation deaf patients estimating recurrence risks their families. Efforts identify responsible have been challenged by high heterogeneity different ethnic-specific prevalence inherited deafness. Here we present utility whole exome sequencing (WES) identifying candidate causal variants previously...
Mutations in GJB2 gene are a major causes of deafness and their spectrum prevalence specific for various populations. The well-known mutation c.35delG is more frequent populations Caucasian origin. Data on the Russia mainly restricted to European part this country. We aimed estimate carrier frequency Western Siberia thereby update current data Russia. According generally accepted hypothesis, originated from common ancestor Middle East or Mediterranean ~ 10,000-14,000 years ago spread...
Mutations in the GJB2 gene are main cause for nonsyndromic autosomal recessive deafness 1A (DFNB1A) many populations. mutational spectrum and pathogenic contribution widely varying different Significant efforts have been made worldwide to define DFNB1A molecular epidemiology, but this issue still remains open some The aim of study is estimate prevalence Tuvinians-an indigenous population Tyva Republic (Southern Siberia, Russia). Sanger sequencing was applied analysis coding (exon 2)...
The mutations in theGJB2(Сх26) gene make the biggest contribution to hereditary hearing loss. spectrum and prevalence of theGJB2gene are specific populations different ethnic origins. For severalGJB2 mutations, their origin from appropriate ancestral founder chromosome was shown, approximate estimations "age" obtained, presumable regions outlined. This work presents results carrier frequencies' analysis major (for European countries) mutation c.35delG (GJB2gene) among 2,308 healthy...
The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found high prevalence recessive c.516G>C, c.-23+1G>A, c.235delC indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians) from Tyva Republic Altai (Southern Siberia, Russia) proposed founder effect as cause their rates these populations. To reconstruct haplotypes associated with each...
Screening pathogenic variants in the SLC26A4 gene is an important part of molecular genetic testing for hearing loss (HL) since they are one common causes hereditary HL many populations. However, a large size (20 coding exons) predetermines difficulties its complete mutational analysis, especially samples patients. In addition, regional or ethno-specific prevalence has not yet been fully elucidated, except c.919-2A>G and c.2168A>G (p.His723Arg), which have proven to be most Asian We explored...