Abstract
It is hard to imagine that all the cells of the human organism (about 1014) share identical genome. Moreover, the number of mitoses (about 1016) required for the organisms development and maturation during ontogeny suggests that at least a proportion of them could be abnormal leading, thereby, to large-scale genomic alterations in somatic cells. Experimental data do demonstrate such genomic variations to exist and to be involved in human development and interindividual genetic variability in health and disease. However, since current genomic technologies are mainly based on methods, which analyze genomes from a large pool of cells, intercellular or somatic genome variations are significantly less appreciated in modern bioscience. Here, a review of somatic genome variations occurring at all levels of genome organization (i.e. DNA sequence, subchromosomal and chromosomal) in health and disease is presented. Looking through the available literature, it was possible to show that the somatic cell genome is extremely variable. Additionally, being mainly associated with chromosome or genome instability (most commonly manifesting as aneuploidy), somatic genome variations are involved in pathogenesis of numerous human diseases. The latter mainly concerns diseases of the brain (i.e. autism, schizophrenia, Alzheimers disease) and immune system (autoimmune diseases), chromosomal and some monogenic syndromes, cancers, infertility and prenatal mortality. Taking into account data on somatic genome variations and chromosome instability, it becomes possible to show that related processes can underlie non-malignant pathology such as (neuro)degeneration or other local tissue dysfunctions. Together, we suggest that detection and characterization of somatic genome behavior and variations can provide new opportunities for human genome research and genetics.
Keywords: Somatic genome variations, aneuploidy, chromosome instability, genomic instability, disease
Current Genomics
Title: Somatic Genome Variations in Health and Disease
Volume: 11 Issue: 6
Author(s): I. Y. Iourov, S. G. Vorsanova and Y. B. Yurov
Affiliation:
Keywords: Somatic genome variations, aneuploidy, chromosome instability, genomic instability, disease
Abstract: It is hard to imagine that all the cells of the human organism (about 1014) share identical genome. Moreover, the number of mitoses (about 1016) required for the organisms development and maturation during ontogeny suggests that at least a proportion of them could be abnormal leading, thereby, to large-scale genomic alterations in somatic cells. Experimental data do demonstrate such genomic variations to exist and to be involved in human development and interindividual genetic variability in health and disease. However, since current genomic technologies are mainly based on methods, which analyze genomes from a large pool of cells, intercellular or somatic genome variations are significantly less appreciated in modern bioscience. Here, a review of somatic genome variations occurring at all levels of genome organization (i.e. DNA sequence, subchromosomal and chromosomal) in health and disease is presented. Looking through the available literature, it was possible to show that the somatic cell genome is extremely variable. Additionally, being mainly associated with chromosome or genome instability (most commonly manifesting as aneuploidy), somatic genome variations are involved in pathogenesis of numerous human diseases. The latter mainly concerns diseases of the brain (i.e. autism, schizophrenia, Alzheimers disease) and immune system (autoimmune diseases), chromosomal and some monogenic syndromes, cancers, infertility and prenatal mortality. Taking into account data on somatic genome variations and chromosome instability, it becomes possible to show that related processes can underlie non-malignant pathology such as (neuro)degeneration or other local tissue dysfunctions. Together, we suggest that detection and characterization of somatic genome behavior and variations can provide new opportunities for human genome research and genetics.
Export Options
About this article
Cite this article as:
Iourov Y. I., Vorsanova G. S. and Yurov B. Y., Somatic Genome Variations in Health and Disease, Current Genomics 2010; 11 (6) . https://dx.doi.org/10.2174/138920210793176065
DOI https://dx.doi.org/10.2174/138920210793176065 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Anti-CD20 in Targeting B Lymphocytes for the Treatment of Autoimmune Diseases: Clinical Benefits and Insights into the Role of B Lymphocytes in Pathophysiology
Immunology, Endocrine & Metabolic Agents in Medicinal Chemistry (Discontinued) Epigenetics in Ocular Diseases
Current Genomics Impact and Therapeutic Potential of PPARs in Alzheimers Disease
Current Neuropharmacology The Medical Functions of Probiotics and Their Role in Clinical Nutrition
Current Nutrition & Food Science Therapeutic Potential of Natural Products from Terrestrial Plants as TNF-α Antagonist
Current Topics in Medicinal Chemistry Sphingolipids in Cell Signaling: Their Function as Receptor Ligands, Second Messengers, and Raft Constituents
Current Immunology Reviews (Discontinued) Randomized Controlled Trials in Prevention of PostSurgical Recurrence in Crohn’s Disease
Reviews on Recent Clinical Trials Recent Applications of Chemiluminescence Assays in Clinical Immunology
Mini-Reviews in Medicinal Chemistry The Antinflammatory Effect of Alpha-MSH in Skin: A Promise for New Treatment Strategies
Anti-Inflammatory & Anti-Allergy Agents in Medicinal Chemistry Recent Advances in the Development of Novel Therapeutics Targeting Dendritic Cells
Recent Patents on Endocrine, Metabolic & Immune Drug Discovery Heme Oxygenase-1 as a Target for the Design of Gene and Pharmaceutical Therapies for Autoimmune Diseases
Current Gene Therapy Modulation of TNF Receptor Family Members to Inhibit Autoimmune Disease
Current Drug Targets - Inflammation & Allergy Recognition of Peptides by Antibodies and Investigations of Affinity Using Biosensor Technology
Combinatorial Chemistry & High Throughput Screening Neurological Involvement as the Initial Manifestation in Primary Sjögren's Syndrome - A Case Report
Current Rheumatology Reviews Systemic Immunomodulation of Autoimmune Disease Using MHC-Derived Recombinant TCR Ligands
Current Drug Targets - Inflammation & Allergy Microchimerism in Health and Disease
Current Molecular Medicine Cell-free DNA: Characteristics, Detection and its Applications in Myocardial Infarction
Current Pharmaceutical Design MICA Molecules in Disease and Transplantation, a Double-Edged Sword?
Current Immunology Reviews (Discontinued) Monoclonal Antibodies: A Review
Current Clinical Pharmacology Therapeutic Blockade of TCR Signal Transduction and Co-Stimulation in Autoimmune Disease
Current Drug Targets - Inflammation & Allergy