ArticleCurrent genomics2010
Somatic genome variations in health and disease.
Article in Current genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 104 citations in OpenAlex.
- Risk Factors for Gastric Cancer: A Systematic ReviewAsian Pacific journal of cancer prevention : APJCP · 2018Pooled it
- The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts.PLoS genetics · 2016Trial
- Benchmarking copy number aberrations inference tools using single-cell multi-omics datasets.Briefings in bioinformatics · 2025Article
- A Paradoxical Role for Somatic Chromosomal Mosaicism and Chromosome Instability in Cancer: Theoretical and Technological Aspects.Methods in molecular biology (Clifton, N.J.) · 2024Review
- High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.Molecular genetics & genomic medicine · 2022Article
- Somatic mosaicism in the diseased brain.Molecular cytogenetics · 2022Review
- Individual Genetic Heterogeneity.Genes · 2022Review
- Svetlana G. Vorsanova (1945-2021).Molecular cytogenetics · 2022Article
- Comprehensive Atlas of Circulating Rare Cells Detected by SE-iFISH and Image Scanning Platform in Patients With Various Diseases.Frontiers in oncology · 2022Article
- Human Endogenous Retrovirus Type W Envelope from Multiple Sclerosis Demyelinating Lesions Shows Unique Solubility and Antigenic Characteristics.Virologica Sinica · 2021Article
- Transcriptome-wide high-throughput mapping of protein-RNA occupancy profiles using POP-seq.Scientific reports · 2021Article
- ER Stress and Micronuclei Cluster: Stress Response Contributes to Genome Chaos in Cancer.Frontiers in cell and developmental biology · 2021Article
- The Cytogenomic "Theory of Everything": Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging.International journal of molecular sciences · 2020Article
- Article
- Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions.Current protocols in human genetics · 2020Article
- Phenomics-Based Quantification of CRISPR-Induced Mosaicism in Zebrafish.Cell systems · 2020Article
- Somatic Genomic Mosaicism in Multiple Myeloma.Frontiers in genetics · 2020Article
- Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging.Molecular cytogenetics · 2020Article
- Review
- The X Files: "The Mystery of X Chromosome Instability in Alzheimer's Disease".Frontiers in genetics · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It is hard to imagine that all the cells of the human organism (about 10(14)) share identical genome. Moreover, the number of mitoses (about 10(16)) required for the organism's 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, Alzheimer's 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.