- Pluripotent Stem Cells Research
- CRISPR and Genetic Engineering
- Chromosomal and Genetic Variations
- Animal Genetics and Reproduction
- Renal and related cancers
- Genomic variations and chromosomal abnormalities
- Genetic diversity and population structure
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Reproductive Biology and Fertility
- Virus-based gene therapy research
- Blood disorders and treatments
- Epigenetics and DNA Methylation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Plant Reproductive Biology
- 3D Printing in Biomedical Research
- Acute Myeloid Leukemia Research
- Avian ecology and behavior
- Immunodeficiency and Autoimmune Disorders
- Reproductive biology and impacts on aquatic species
- RNA Research and Splicing
- Advanced biosensing and bioanalysis techniques
- CAR-T cell therapy research
- Genetics, Aging, and Longevity in Model Organisms
- Prenatal Screening and Diagnostics
Institute of Cytology and Genetics
2009-2023
Siberian Branch of the Russian Academy of Sciences
2009-2022
Russian Academy of Sciences
2019
Tomsk National Research Medical Center
2019
Nagoya University
2003-2005
Significance We discovered that contrary to other bird species and most animals, all examined songbird lineages contain a different number of chromosomes in the somatic germline genomes. Their germ cells have an additional germline-restricted chromosome (GRC). GRCs highly duplicated genetic material represented by repetitive elements sequences homologous unique regions genome. Surprisingly, even very closely related species, vary drastically size show little homology. hypothesize GRC was...
Recently fibroblasts of many mammalian species have been reprogrammed to pluripotent state using overexpression several transcription factors. This technology allows production induced stem (iPS) cells with properties similar embryonic (ES) cells. The completeness reprogramming process is well studied in such as mouse and human but there not enough data on other species. We produced American mink (Neovison vison) ES iPS compared these transcriptome analysis. report the generation 10 22 cell...
Abstract Chromosome segregation was studied in 14 intra‐ and 20 inter‐specific hybrid clones generated by fusion of Mus musculus embryonic stem (ES) cells with fibroblasts or splenocytes DD/c mice caroli. As a control for vitro evolution tetraploid karyotype we used set obtained ES (D3) (TgTP6.3). Identification the parental chromosomes performed microsatellite analysis situ hybridization labeled species‐specific probes. Both analyses have revealed three types clones: (i) stable tetraploid,...
Abstract Human ring chromosomes are often unstable during mitosis, and daughter cells can be partially or completely aneuploid. We studied the mitotic stability of four chromosomes, 8, 13, 18, 22, in long-term cultures skin fibroblasts induced pluripotent stem (iPSCs) by GTG karyotyping aCGH. Ring chromosome loss secondary aberrations were observed all fibroblast except for r(18). found monosomy, fragmentation, translocation indexed chromosomes. In iPSCs, aCGH revealed striking differences...
In two experimental series of transplantation embryonic cell nuclei into nonenucleated unfertilized eggs in medaka (Oryzias latipes), fertile and diploid nuclear transplants were successfully generated. the first experiment, from blastula cells a stock with wild-type body color transplanted 1722 orange-red variety. Of 26 adult color, 22 were, as expected, triploid sterile, but other four fertile. Three diploid, last one was tetraploid. They transmitted to F1 F2 progenies Mendelian fashion....
To develop nuclear transplantation techniques for the medaka Oryzias latipes , nuclei of cultured cells from transgenic fish were transplanted into unfertilized eggs orange–red variety O. without enucleation, in two experimental series. In first series, fibroblast adult caudal fin used as donors, which carried green fluorescent protein ( GFP ) gene driven by promoter elongation factor 1α‐A gene. Wild‐type body color was another donor genetic marker this second 6‐day‐old embryos β‐actin From...
Abstract In a previous study using one-step CRISPR/Cas9 genome editing in mouse zygotes, we created five founders carrying 1,137 kb deletion and two the same deletion, plus 2,274 duplication involving Cntn6 gene (encoding contactin-6). Using these mice, present had following aims: ( i ) to establish stage of origin rearrangements; ii determine fate deleted DNA fragments; iii estimate scale unpredicted changes accompanying rearrangements. The demonstrated that all targeted deletions...
Skin fibroblasts from a patient with neurodevelopmental and speech delay, anxiety disorder, macrocephaly, microorchidism, multiple anomalies of internal organs ring chromosome 13 were reprogrammed into induced pluripotent stem cells (iPSCs) to generate clonal cell line IMGTi003-A (iTAF6-6). pluripotency was demonstrated by three germ layer differentiation capacity in vitro, this had mosaic karyotype 46,XY,r(13) as predominant subpopulation. is good model for studying the mitotic instability 13.
For the first time, two types of hybrid cells with embryonic stem (ES) cell-like and fibroblast-like phenotypes were produced through fusion mouse ES fibroblasts. Transcriptome analysis 2,848 genes differentially expressed in parental demonstrated that 34-43% these are cells, consistent their phenotypes; 25-29% display intermediate levels expression, 12-16% maintained expression at cell level, inconsistent phenotype cell. Approximately 20% analyzed displayed unexpected patterns differ from...
Abstract The genome of flying birds, the smallest among amniotes, reflects overweight extensive DNA loss over unrestricted proliferation selfish genetic elements, resulted in a shortage repeated sequences and lack B-chromosomes. only exception this rule has been described zebra finch, which possesses large germ-line restricted chromosome (GRC), transmitted via oocytes, eliminated from male postmeiotic cells absent somatic cell. It is considered as rarity its origin, content function remain...
Karyotypes of less than 10% bird species are known. Using immunolocalization the synaptonemal complex, core structure meiotic chromosomes at pachytene stage, and centromere proteins, we describe male karyotypes 17 birds. This method enables higher resolution conventional analyses metaphase chromosomes. We provide first descriptions 3 (rook, Blyth's reed warbler, European pied flycatcher), correct published data on 10 species, confirm them for 4 species. All passerine examined have highly...
Cohen syndrome is an autosomal recessive disorder caused by VPS13B (COH1) gene mutations. This significantly underdiagnosed and characterized intellectual disability, microcephaly, autistic symptoms, hypotension, myopia, retinal dystrophy, neutropenia, obesity. regulates intracellular membrane transport supports the Golgi apparatus structure, which critical for neuron formation. We generated induced pluripotent stem cells from two patients with pronounced manifestations of differentiated...
Abstract Neuronal tracing is a modern technology that based on the expression of fluorescent proteins under control cell type–specific promoters. However, random genomic integration reporter construct often leads to incorrect spatial and temporal marker protein. Targeted (or knock‐in) coding sequence supposed provide better by exploiting endogenous regulatory elements. Here we describe generation two systems: enhanced green protein (EGFP) pan‐neural class III β‐tubulin ( Tubb3 ) promoter...
The human induced pluripotent stem cell (iPSC) lines, ICGi009-A, ICGi009-B, ICGi013-A and ICGi013-B, were generated from skin fibroblasts of two siblings with intellectual disability. Both patients carriers CNTN6 gene microdeletion (Kashevarova et al., 2014). iPSC lines have normal karyotype, express pluripotency markers, are able to differentiate in vitro into derivatives all three germ layers represent a unique tool study neurodevelopmental disorders.
Mammalian genome reprogramming has been studied for more than half a century. First, Sir John Gurdon showed the possibility of differentiated cell by enucleated oocyte factors in 1962. Dr. Shinya Yamanaka produced induced pluripotent stem (iPS) cells from mouse fibroblasts use just four transcription 2006: Oct4, Klf4, Sox2, and c-Myc. Generation iPS put question about completeness: do genes derived retain their expression? And are features compliance with those embryonic (ES) that serve as...
Skin fibroblasts from a patient with developmental delay and chromosome 2p25.3 deletion syndrome were reprogrammed into induced pluripotent stem cells (iPSCs) the clonal cell line ICAGi001-A (iTAF9-11) was established. pluripotency demonstrated in vitro by three germ layer differentiation capacity. This is good model for studying of brain disorder.
Ring chromosome 18 is a rare chromosomal disorders that usually originate de novo and correlate with clinical manifestation: developmental delay as well microcephaly, brain ocular malformations, hypotonia skeletal abnormalities. We generate iPSC clonal cell line ICGi024-A pluripotency properties which were demonstrated in vitro by three germ layer differentiation capacity. can be used for disease modeling fundamental investigation of ring instability.