Somatic Genome Variations in Health and Disease

Overview

Journal Curr Genomics

Publisher Bentham Science Publishers

Date 2011 Mar 2

PMID 21358982

Citations 46

Authors

I Y Iourov

S G Vorsanova

Y B Yurov

Affiliations

Soon will be listed here.

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.

Citing Articles

Benchmarking copy number aberrations inference tools using single-cell multi-omics datasets.

Song M, Ma S, Wang G, Wang Y, Yang Z, Xie B Brief Bioinform. 2025; 26(2).

PMID: 40037644 PMC: 11879432. DOI: 10.1093/bib/bbaf076.

A Paradoxical Role for Somatic Chromosomal Mosaicism and Chromosome Instability in Cancer: Theoretical and Technological Aspects.

Iourov I, Vorsanova S, Yurov Y Methods Mol Biol. 2024; 2825:67-78.

PMID: 38913303 DOI: 10.1007/978-1-0716-3946-7_3.

Somatic mosaicism in the diseased brain.

Iourov I, Vorsanova S, Kurinnaia O, Kutsev S, Yurov Y Mol Cytogenet. 2022; 15(1):45.

PMID: 36266706 PMC: 9585840. DOI: 10.1186/s13039-022-00624-y.

Individual Genetic Heterogeneity.

Vihinen M Genes (Basel). 2022; 13(9).

PMID: 36140794 PMC: 9498725. DOI: 10.3390/genes13091626.

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.

Yildiz Bolukbasi E, Karolak J, Szafranski P, Gambin T, Willard N, Abman S Mol Genet Genomic Med. 2022; 10(11):e2062.

PMID: 36124617 PMC: 9651602. DOI: 10.1002/mgg3.2062.

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