Ivan Y. Iourov's research while affiliated with Pirogov Russian National Research Medical University and other places
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Publications (186)
Molecular cytogenetic and cytogenomic studies have made a contribution to genetics of epilepsy. However, current genomic research of this devastative condition is generally focused on the molecular genetic aspects (i.e. gene hunting, detecting mutations in known epilepsy-associated genes, searching monogenic causes of epilepsy). Nonetheless, chromo...
Background
DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to ethnic differences. Here, clinical characteristics of 72 pa...
Despite the achievements of human genomics, comprehensive genome analysis, including acquiring the knowledge about intercellular and interindividual variations at (sub)chromosomal/ cytogenomic level, remains a difficult task. This basically results from a lack of heuristic algorithms for uncovering (cyto)genomic and/or somatic genome variations and...
Fluorescence in situ hybridization (FISH) is the method of choice for visualizing chromosomal DNA in post-mitotic cells. The availability of chromosome-enumeration (centromeric), site-specific, and multicolor-banding DNA probes offers opportunities to uncover genomic changes, at the chromosomal level, in single interphase nuclei. Alzheimer’s diseas...
It is hard to believe that all the cells of a human brain share identical genomes. Indeed, single cell genetic studies have demonstrated intercellular genomic variability in the normal and diseased brain. Moreover, there is a growing amount of evidence on the contribution of somatic mosaicism (the presence of genetically different cell populations...
Background
Technical advances and cost reduction allowed for worldwide popularity of array platforms. Otherwise called “molecular karyotyping”, it yields big amount of CNV data, which is useless without interpretation.
Objective
Here we review existing CNV interpretation software and algorithms to reveal their possibilities and limitations.
Resul...
Resumen
Introducción: La deleción en la región 22q11.2 es considerada la microdeleción más frecuente en humanos, caracterizándose por una gran diversidad de rasgos clínicos, que hace difícil su diagnóstico.
Objetivo: describir las características fenotípicas de los pacientes que ya tienen un diagnóstico molecular de la deleción 22q11.2, de esta man...
Background
Klinefelter syndrome is a common chromosomal (aneuploidy) disorder associated with an extra X chromosome in males. Regardless of numerous studies dedicated to somatic gonosomal mosaicism, Klinefelter syndrome mosaicism (KSM) has not been systematically addressed in clinical cohorts. Here, we report on the evaluation of KSM in a large coh...
MicroRNAs (miRNAs), which represent short (20 to 22 nt) non-coding RNAs, were found to play a direct role in the development of autism in children. Herein, a highly sensitive “silicon-on-insulator”-based nanosensor (SOI-NS) has been developed for the revelation of autism-associated miRNAs. This SOI-NS comprises an array of nanowire sensor structure...
MicroRNAs, which circulate in blood, are characterized by high diagnostic value; in biomedical research, they can be considered as candidate markers of various diseases. Mature microRNAs of glial cells and neurons can cross the blood-brain barrier and can be detected in the serum of patients with autism spectrum disorders (ASD) as components of mac...
Chromosome 18p deletion syndrome (18p-) is associated with a loss of chromosomal material of the short arm (partial monosomy); however, the whole short arm is lost in the majority of cases. The frequency of 18p- syndrome is 1:60000. The syndrome is cytogenetically and clinically heterogeneous. The clinical manifestations vary extremely from mild fo...
Chromosome instability (CIN) has been repeatedly associated with aging and progeroid phenotypes. Moreover, brain-specific CIN seems to be an important element of pathogenic cascades leading to neurodegeneration in late adulthood. Alternatively, CIN and aneuploidy (chromosomal loss/gain) syndromes exhibit accelerated aging phenotypes. Molecularly, c...
With the introduction of systems theory to genetics, numerous opportunities for genomic research have been identified. Consequences of DNA sequence variations are systematically evaluated using the network- or pathway-based analysis, a technological basis of systems biology or, more precisely, systems genomics. Despite comprehensive descriptions of...
SHANK3 encodes a scaffold protein involved in postsynaptic receptor density in glutamatergic synapses, including those in the parvalbumin (PV)+ inhibitory neurons—the key players in the generation of sensory gamma oscillations, such as 40-Hz auditory steady-state response (ASSR). However, 40-Hz ASSR was not studied in relation to SHANK3 functioning...
Background
Turner’s syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Despite the interest in studying (somatic) chromosomal mosaicism, Turner’s syndrome mosaicism (TSM) remains to be fully described. This is especially true for the analysis of TSM in clinical cohorts (e.g. cohorts of indiv...
Cytogenomic landscape encompasses genomic variations at the chromosomal (subchromosomal) level and chromosome arrangement in interphase. Molecular neurocytogenetics and neurocytogenomics have emerged as valuable tools for uncovering somatic genome (chromosome) variations (aneuploidy, subchromosomal rearrangements, copy number variations) and interp...
Introduction:
Neurodevelopmental disorders (NDD) are featured by a delay in the acquisition of motor functions, cognitive abilities and speech, or combined deficits in these areas with the onset before the age of 5 years. Genetic causes account for approximately a half of all NDD cases.
Objective:
to describe alterations of the genome implied in n...
Mechanisms for somatic chromosomal mosaicism (SCM) and chromosomal instability (CIN) are not completely understood. During molecular karyotyping and bioinformatic analyses of children with neurodevelopmental disorders and congenital malformations (n = 612), we observed colocalization of regular chromosomal imbalances or copy number variations (CNV)...
Mechanisms for somatic chromosomal mosaicism (SCM) and chromosomal instability (CIN) are incompletely understood. During SNP-array molecular karyotyping and bioinformatic analyses of children with neurodevelopmental disorders and congenital malformations (n=612), we observed colocalizaion of regular chromosomal imbalances or copy number variations...
The effect of COVID-19 on biomedical publishing (BP) (i.e. scientific biomedical periodicals continuously published by research communities or commercial publishers) has not been deeply explored. To estimate the immediate COVID-19 impact on BP, we have assessed PubMed-indexed articles about COVID-19 (PMIAC) from December 2019 to April 2020. PMIAC h...
Background:
Somatic chromosomal mosaicism is the presence of cell populations differing with respect to the chromosome complements (e.g. normal and abnormal) in an individual. Chromosomal mosaicism is associated with a wide spectrum of disease conditions and aging. Studying somatic genome variations has indicated that amounts of chromosomally abno...
A qualitative improvement in the management of pregnancy and delivery, optimization of General care and provision of intensive care for children born prematurely, particularly with low and extremely low body weight, significantly reduced the risk of damage to the nervous system of perinatal hypoxic-ischemic genesis. At the same time, there is a sig...
Molecular neurocytogenetic (neurocytogenomic) studies have shown the human brain to demonstrate somatic genome variability (mosaic aneuploidy, subchromosomal rearrangements). Chromosomal mosaicism and instability rates vary during ontogeny in the human brain: dramatic increase of the rates in the early brain development follows by a significant dec...
Undoubtedly, genome-centric and gene-centric are the words to describe actual concepts in human genetics. In a world of genes and genomes, the lack of required attention to chromosomes is often observed. As a result, chromosome research gradually loses the genetic (genomic) context. Certainly, brilliant insights into chromosome biology obtained by...
Landmark discoveries in chromosome biology are intimately associated with introducing novel molecular technologies. Cytogenetic analysis remains the gold standard for technological advances in human genetics. However, since the resolution of the analysis is rather low (~5 Mb), numerous molecular technologies with a higher resolution have been intro...
This second edition focuses on the study of human interphase chromosomes and its relation to health and disease. Orchestrated organization and behavior of the human genome in interphase nuclei at chromosomal level has been repeatedly shown to play a significant role in almost all basic biological processes involved in the processing and inheritance...
Interphase molecular cytogenetics provides opportunities for analysis of chromosomes in almost all types of human cells at any stage of the cell cycle. Generally, interphase fluorescence in situ hybridization (I-FISH) is a basic technological platform for visualization of individual chromosomes (chromosomal regions) in single cells. The achievement...
Background:
Prioritization of genomic data has become a useful tool for uncovering the phenotypic effect of genetic variations (e.g. copy number variations or CNV) and disease mechanisms. Due to the complexity, brain disorders represent a major focus of genomic research aimed at revealing pathologic significance of genomic changes leading to brain...
Background:
Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and diseases, studies of genetic causes of a disease are usually dedicated to the identification of single causative genomic changes...
Genetic factors of mental illness are generally recognized. Here, it is shown that molecular karyotyping in combination with original bioinformatics methods offers the opportunity for effective uncovering genomic pathology, which may provide correct data on genetic factors for mental disorders in children.
Despite the large number of candidate genes for mental disorders, molecular mechanisms of the majority remain unknown. To fill this gap, we have studied genomic networks-candidates (instead of genes) in a group of children with brain disorders. The identification of such processes seems to be more promising for developing therapeutic strategies in...
Background: Interphase chromosome-specific multicolor banding (ICS-MCB) has been developed for studying whole chromosomes in interphase nuclei at any stage of the cell cycle at molecular resolution. Previously, important biomedical discoveries have been made using the technique. In the postgenomic era, a need appears to exist for a reevaluation of...
Protein profiles of 13 serum samples from children with autism spectrum disorders (ASD) and 11 serum samples from healthy volunteers was obtained using panoramic ultra-high resolution mass spectrometry. The analysis of measurements was performed using the proteomics search engine. We identified a group of 74 proteins which we term a "protein finger...
Intercellular karyotypic variability has been a focus of genetic research for more than 50 years. It has been repeatedly shown that chromosome heterogeneity manifesting as chromosomal mosaicism is associated with a variety of human diseases. Due to the ability of changing dynamically throughout the ontogeny, chromosomal mosaicism may mediate genome...
Background
In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and “factor-centric”; a disease may be, thereby, designated as monogenic, oligogenic or polygenic/multifactorial. Chromosomal diseases/syndromes and abnormalities are generally...
We provide an overview of the recent achievements in psychiatric genetics research in the Russian Federation and present genotype-phenotype, population, epigenetic, cytogenetic, functional, ENIGMA, and pharmacogenetic studies, with an emphasis on genome-wide association studies. The genetic backgrounds of mental illnesses in the polyethnic and mult...
Aim:
Long continuous stretches of homozygosity (LCSH) are regularly detected in studies using molecular karyotyping (SNP array). Despite this type of variation being able to provide meaningful data on the parents' kinship, uniparental disomy and chromosome rearrangements, LCSH are rarely considered as a possible epigenetic cause of neurodevelopmen...
Background
VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have stood the test of time. The Symposium of Rare Diseases has shown that studying Rett syndrome provid...
Purpose of Review
During the last decade, genomics has delivered basic insight into somatic genome variations contributing to human neuronal diversity in health and disease. Here, we review research on somatic chromosomal mosaicism and chromosome instability in the developing and adult (normal and diseased) human brain, representing the emerging fi...
Supplementary material is available on the publisher’s web site along with the published article.
Fluorescence in situ hybridization (FISH) has a wide spectrum of applications in current molecular cytogenetic and cancer research. This is a unique technique that can be used for chromosomal DNA analysis in all cell types, at all stages of the cell cycle, and at molecular resolution. Recent developments in microscopy and imaging systems have allow...
Interphase fluorescence in situ hybridization (iFISH) allows qualitative and quantitative detection of chromosomal DNA at all stages of the cell cycle and at molecular resolutions. Accordingly, this methodology offers an opportunity to address chromosome numbers and structures in all the human tissues. In this light, a variety of iFISH techniques h...
Microscopy is an integral part of fluorescence in situ hybridization (FISH) and related techniques. In combination with imaging technologies, microscopy has become a basis for a variety of FISH-based approaches to qualitative and quantitative molecular cytogenetic analysis of nucleic acids in situ. Here, these basic components of FISH—microscopy an...
Possibility of detection of target proteins associated with development of autistic disorders in children with use of combined atomic force microscopy and mass spectrometry (AFM/MS) method is demonstrated. The proposed method is based on the combination of affine enrichment of proteins from biological samples and visualization of these proteins by...
According to WHO data, about 67 million people worldwide are affected by autism, and this number grows by 14% annually. Among the possible causes of autism are genetic modifications, organic lesions of the central nervous system, metabolic disorders, influence of viral and bacterial infections, chemical influence to the mother’s body during pregnan...
Behavioral sciences are inseparably related to genetics. A variety of neurobehavioral phenotypes are suggested to result from genomic variations. However, the contribution of genetic factors to common behavioral disorders (i.e. autism, schizophrenia, intellectual disability) remains to be understood when an attempt to link behavioral variability to...
During the last decades, a large amount of newly described microduplications and microdeletions associated with intellectual disability (ID) and related neuropsychiatric diseases have been discovered. However, due to natural limitations, a significant part of them has not been the focus of multidisciplinary approaches.
Here, we address previously u...
Genomic or chromosomal mosaicism in human brain cells is considered a source for neuronal diversity and a mechanism for neuropsychiatric diseases. However, there is still a lack of consensus concerning the extent and effects of mosaic chromosome abnormalities (i.e., aneuploidy) in the normal and diseased human brain. To solve this problem, a need f...
A comparative panoramic mass spectrometric analysis of serum samples of children suffering from autistic disorders was carried out. Three families were examined, with nine samples distributed in four control samples of healthy parents and five samples of autistic children. In the course of comparative analysis of protein composition of the serum sa...
Background:
Chromosome counting is a process in which cells determine somehow their intrinsic chromosome number(s). The best-studied cellular mechanism that involves chromosome counting is 'chromosome-kissing' and X-chromosome inactivation (XCI) mechanism. It is necessary for the well-known dosage compensation between the genders in mammals to bal...
Bioinformatic approaches have been extensively applied in genetic and genomic studies of autism spectrum disorders (ASD). However, since this disorder has a distinct albeit complex genetic etiology, these studies have generated data sets requiring additional empirical and theoretical evaluations of molecular and cellular pathway. Additionally, gene...
With the developments in molecular cytogenetics, it has become evident that correct interpretation of molecular cytogenetic data requires the application of bioinformatics. Furthermore, in silico analysis of chromosome structural and functional variability has been shown to increase the potential of a molecular cytogenetic study. Using systems biol...
Interphase fluorescence in situ hybridization (FISH) is a unique possibility to visualize nuclear DNA in all eukaryotic cells, whether dividing or not. This technology comprises a variety of FISH-based approaches, which provide either qualitative or quantitative detection of DNA in cellular nuclei. Through hybridization to specific genomic loci or...
Contributing reviewers
The Editors of Molecular Cytogenetics would like to thank all our reviewers who have contributed to the journal in volume 8 (2015).
Aim:
To analyze structural variations in the genome in children with autism and intellectual disability.
Material and methods:
Using high-resolution karyotyping (AffymetrixCytoScan HD Array) and original bioinformatic technology, 200 children with autism and intellectual disability were studied.
Results and conclusion:
Data on structural varia...
Aim:
Experimental verification of the hypothesis about the possible involvement of the mosaic genome variations (mosaic aneuploidy) in the pathogenesis of a number of mental illnesses, including schizophrenia and autism: a genetic study of the level of mosaic genome variations in cells of the brain autopsy tissues in healthy controls and schizophr...
Recent developments in molecular cytogenetics allow the detection of genomic rearrangements at an unprecedented level leading to discoveries of previously unknown chromosomal imbalances (zygotic and post-zygotic/mosaic). These can be accompanied by a different kind of pathological genome variations, i.e. chromosome instability (CIN) manifested as s...
Background:
In contrast to other autism spectrum disorders, chromosome abnormalities are rare in Asperger syndrome (AS) or high-functioning autism. Consequently, AS was occasionally subjected to classical positional cloning. Here, we report on a case of AS associated with a deletion of the short arm of chromosome 3. Further in silico analysis has...
Background:
Long contiguous stretches of homozygosity (LCSH) (regions/runs of homozygosity) are repeatedly detected by single-nucleotide polymorphism (SNP) chromosomal microarrays. Providing important clues regarding parental relatedness (consanguinity), uniparental disomy, chromosomal recombination or rearrangements, LCSH are rarely considered as...
Somatic genome variations (mosaicism) seem to represent a common mechanism for human intercellular/interindividual diversity in health and disease. However, origins and mechanisms of somatic mosaicism remain a matter of conjecture. Recently, it has been hypothesized that zygotic genomic variation naturally occurring in humans is likely to predispos...
Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2). Despite the fact that this disease has been studied for more than 20 years the problem of genetic and epigenetic factor involvement in the pathogenesis of RTT is not completely solved. In the pres...
Contributing reviewers
The Editors of Molecular Cytogenetics would like to thank all our reviewers who have contributed to the journal in volume 7 (2014).