Publications by authors named "Potapova T"

Background: The most severe complications of antibiotic use are clostridial infection (CDI) and pseudomembranous colitis (PMC). There is a need for further study of these conditions and identification of their triggers.

Aim: To identify risk factors for severe forms of antibiotic-associated diarrhea caused by .

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Robertsonian chromosomes are a type of variant chromosome found commonly in nature. Present in one in 800 humans, these chromosomes can underlie infertility, trisomies, and increased cancer incidence. Recognized cytogenetically for more than a century, their origins have remained mysterious.

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Ribosomal RNA (rRNA) genes exist in multiple copies arranged in tandem arrays known as ribosomal DNA (rDNA). The total number of gene copies is variable, and the mechanisms buffering this copy number variation remain unresolved. We surveyed the number, distribution, and activity of rDNA arrays at the level of individual chromosomes across multiple human and primate genomes.

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Article Synopsis
  • The study presents detailed genomes of six ape species, achieving high accuracy and complete sequencing of all their chromosomes.
  • It addresses complex genomic regions, leading to enhanced understanding of evolutionary relationships among these species.
  • The findings will serve as a crucial resource for future research on human evolution and our closest ape relatives.
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Telomere-to-telomere (T2T) assemblies reveal new insights into the structure and function of the previously 'invisible' parts of the genome and allow comparative analyses of complete genomes across entire clades. We present here an open collaborative effort, termed the 'Ruminant T2T Consortium' (RT2T), that aims to generate complete diploid assemblies for numerous species of the Artiodactyla suborder Ruminantia to examine chromosomal evolution in the context of natural selection and domestication of species used as livestock.

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Article Synopsis
  • Apes have two sex chromosomes: the essential Y chromosome for male reproduction and the X chromosome necessary for both reproduction and cognition, with differences in mating patterns affecting their function.
  • Studying these chromosomes is challenging due to their repetitive structures, but researchers created gapless assemblies for five great apes and one lesser ape to explore their evolutionary complexities.
  • The Y chromosomes are highly variable and undergo significant changes compared to the more stable X chromosomes, and this research can provide insights into human evolution and aid in the conservation of endangered ape species.
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  • Human centromeres are challenging to sequence due to their large size and repetitive nature, limiting our understanding of their variation and evolutionary function.
  • Using long-read sequencing, researchers completely sequenced and assembled all centromeres from a second human genome, revealing a significant increase in genetic variation and size differences between centromeres.
  • Comparative analysis of centromeric sequences across species, including humans and great apes, highlights the rapid evolution of α-satellite DNA and suggests limited recombination between chromosome arms, aiding in studying centromeric DNA evolution.
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Objective: Aim: To describe health status and related functioning of patients with different severity of traumatic brain injury (TBI) in past medical history in Ukraine and determining the feasibility of using the International Classification of Functioning, Disability and Health (ICF) Brief Core Set for TBI.

Patients And Methods: Materials and Methods: A total of 102 patients, who were treated in the neurological department of Dnipropetrovsk regional clinical hospital and State Institution ≪Ukrainian State Scientific Research Institute of Medical and Social Problems of Disability of Health Ministry of Ukraine≫, had been examined. Patients were divided into three groups: mild, moderate and severe TBI in past history and evaluated using ICF Brief Core Set for TBI.

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Ribosome biogenesis is a vital and highly energy-consuming cellular function occurring primarily in the nucleolus. Cancer cells have an elevated demand for ribosomes to sustain continuous proliferation. This study evaluated the impact of existing anticancer drugs on the nucleolus by screening a library of anticancer compounds for drugs that induce nucleolar stress.

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Article Synopsis
  • Apes have two main sex chromosomes, X and Y, where Y is crucial for male reproduction and its deletions can lead to infertility, while X is important for both reproduction and brain function.
  • Recent advancements in genomic techniques helped researchers create complete structures of the X and Y chromosomes for multiple great ape species, allowing them to explore their evolutionary complexities.
  • Findings indicate that Y chromosomes are highly variable and undergo rapid changes due to unique genetic regions and transposable elements, while X chromosomes are more stable, highlighting differing evolutionary paths among great ape species.
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is a quintessential tip-growing organism, which is well known for packaging and longitudinal transport of tip-building blocks. Thus far, however, little attention has been paid to the co-essential process of reclamation, that is-taking apart of upstream, older structural elements, otherwise known as "autophagy". We are not yet prepared to set out the chemistry of that elaborate process, but its morphological start alone is worthy of attention.

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The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished. Here, the Telomere-to-Telomere (T2T) consortium presents the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference, showing the complete ampliconic structures of gene families TSPY, DAZ and RBMY; 41 additional protein-coding genes, mostly from the TSPY family; and an alternating pattern of human satellite 1 and 3 blocks in the heterochromatic Yq12 region.

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We completely sequenced and assembled all centromeres from a second human genome and used two reference sets to benchmark genetic, epigenetic, and evolutionary variation within centromeres from a diversity panel of humans and apes. We find that centromere single-nucleotide variation can increase by up to 4.1-fold relative to other genomic regions, with the caveat that up to 45.

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Article Synopsis
  • The research investigates the short arms of human acrocentric chromosomes (13, 14, 15, 21, and 22), revealing large homologous regions that suggest ongoing recombination rather than simply being ancestral traits.
  • Using comprehensive data from the Human Pangenome Reference Consortium, the study identifies pseudo-homologous regions (PHRs) within these chromosomes, indicating frequent genetic exchanges between non-homologous sequences, which could lead to variations in genetic traits.
  • The findings support the idea that these regions are linked to Robertsonian translocations, indicating that modern genetic studies reaffirm old cytogenetic theories about chromosome interactions dating back 50 years.
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The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society. However, it still has many gaps and errors, and does not represent a biological genome as it is a blend of multiple individuals. Recently, a high-quality telomere-to-telomere reference, CHM13, was generated with the latest long-read technologies, but it was derived from a hydatidiform mole cell line with a nearly homozygous genome.

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Objective: The aim: To analyze the assessment of the decrease in working capacity degree in patients with rheumatoid arthritis in accordance with modern diagnostic disease criteria and social approaches to disability definition in the world (the decline degree of vital activity).

Patients And Methods: Materials and methods: We analyzed the dynamics of primary disability caused by musculoskeletal system and connective tissue diseases (the main disease - RA) in Ukraine in 2016-2020. We analyzed the data of medical and social cases of 433 patients with RA (referral for medical and social examination, Form 088/o).

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Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium presents a complete 3.055 billion-base pair sequence of a human genome, T2T-CHM13, that includes gapless assemblies for all chromosomes except Y, corrects errors in the prior references, and introduces nearly 200 million base pairs of sequence containing 1956 gene predictions, 99 of which are predicted to be protein coding.

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Existing human genome assemblies have almost entirely excluded repetitive sequences within and near centromeres, limiting our understanding of their organization, evolution, and functions, which include facilitating proper chromosome segregation. Now, a complete, telomere-to-telomere human genome assembly (T2T-CHM13) has enabled us to comprehensively characterize pericentromeric and centromeric repeats, which constitute 6.2% of the genome (189.

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This protocol describes the fluorescence in situ hybridization (FISH) of DNA probes on mitotic chromosome spreads optimized for two super-resolution microscopy approaches-structured illumination microscopy (SIM) and stimulated emission depletion (STED). It is based on traditional DNA FISH methods that can be combined with immunofluorescence labeling (Immuno-FISH). This technique previously allowed us to visualize ribosomal DNA linkages between human acrocentric chromosomes and provided information about the activity status of linked rDNA loci.

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Centromeric α-satellite repeats represent ~6% of the human genome, but their length and repetitive nature make sequencing and analysis of those regions challenging. However, centromeres are essential for the stable propagation of chromosomes, so tools are urgently needed to monitor centromere copy number and how it influences chromosome transmission and genome stability. We developed and benchmarked droplet digital PCR (ddPCR) assays that measure copy number for five human centromeric arrays.

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A comprehensive study of the functioning of antioxidant system in rats with rotenone-induced parkinsonism was conducted. The development of pathology led to inhibition of the majority of the studied antioxidant enzymes in the brain and blood serum of animals, which can be associated with decompensation of oxidative stress under conditions of prolonged mitochondrial dysfunction. These changes apparently make an important contribution into neuronal degeneration in the cerebral cortex and striatum and motor disorders in experimental animals.

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Vavilovskii Zhurnal Genet Selektsii

May 2020

The TRPM8 gene encodes the ion channel, which is a cold receptor in afferent neurons of the mammalian somatosensory system. We studied the frequency of haplotype distribution from six SNPs in the TRPM8 gene in Eurasian human populations, including Russians, Kazakhs and Chukchi. Four of the six SNPs are located in exon 7 (rs13004520, rs28901637, rs11562975, rs17868387), rs7593557 is in exon 11.

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After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and hundreds of unresolved gaps persist. Here we present a human genome assembly that surpasses the continuity of GRCh38, along with a gapless, telomere-to-telomere assembly of a human chromosome.

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The spatial organization of the genome is enigmatic. Direct evidence of physical contacts between chromosomes and their visualization at nanoscale resolution has been limited. We used superresolution microscopy to demonstrate that ribosomal DNA (rDNA) can form linkages between chromosomes.

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