Somatic genome variations in health and disease.
Somatic genome variations in health and disease.
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健康和疾病的体细胞基因组变异。
DOI：
10.2174/138920210793176065
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发表时间：
2010-09
期刊：
影响因子：
2.6
通讯作者：
Yurov YB
中科院分区：
文献类型：
--
作者：
Iourov IY;Vorsanova SG;Yurov YB
很难想象人类有机体的所有细胞(约1014个)都拥有相同的基因组。此外，个体发育过程中生物体发育和成熟所需的有丝分裂数(约1016个)表明，至少有一定比例的有丝分裂可能是异常的，从而导致体细胞的大规模基因组变化。实验数据确实证明了这种基因组变异的存在，并参与了人类发育以及健康和疾病中的个体间遗传变异。然而，由于目前的基因组技术主要基于从大量细胞中分析基因组的方法，因此在现代生物科学中，细胞间或体细胞基因组变异的认识明显较少。本文综述了健康和疾病中发生在基因组组织的各个层面(即DNA序列、亚染色体和染色体)的体细胞基因组变异。通过查阅现有的文献，有可能表明体细胞基因组是极其多变的。此外，体细胞基因组变异主要与染色体或基因组的不稳定性(最常见的表现为非整倍体)有关，参与了许多人类疾病的发病机制。后者主要涉及脑部疾病(即自闭症、精神分裂症、阿尔茨海默病)和免疫系统疾病(自身免疫性疾病)、染色体和一些单基因综合征、癌症、不孕症和产前死亡。考虑到体细胞基因组变异和染色体不稳定的数据，可以证明相关过程可能是非恶性病理的基础，例如(神经)变性或其他局部组织功能障碍。总之，我们认为，体细胞基因组行为和变异的检测和表征可以为人类基因组研究和遗传学提供新的机会。
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 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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影响因子：
2
作者：
Havlovicova, Marketa;Novotna, Drahuse;Sedlacek, Zdenek
通讯作者：
Sedlacek, Zdenek
影响因子：
3.5
作者：
Beck, JA;Poulter, M;Tabrizi, SJ
通讯作者：
Tabrizi, SJ
影响因子：
6.1
作者：
Hogart A;Wu D;LaSalle JM;Schanen NC
通讯作者：
Schanen NC
影响因子：
4.4
作者：
De Biase, Irene;Rasmussen, Astrid;Bidichandani, Saniav I.
通讯作者：
Bidichandani, Saniav I.
影响因子：
6.6
作者：
DELISI, LE;FRIEDRICH, U;CROW, TJ
通讯作者：
CROW, TJ