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International Journal of Genomics - Volume 2015 2015, Article ID 757680, 7 pages -

Research Article

Mental Health Research Center, Moscow 117152, Russia

Separated Structural Unit -Clinical Research Institute of Pediatrics-, Pirogov Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow 125412, Russia

Department of Medical Genetics, Russian Medical Academy of Postgraduate Education, Moscow 123995, Russia

I.M. Sechenov First Moscow Medical University, Moscow 119991, Russia

Received 11 March 2015; Accepted 27 July 2015

Academic Editor: Henry Heng

Copyright © 2015 Ivan Y. Iourov et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 predispose to nonheritable genetic changes aneuploidy acquired during the lifetime through affecting cell cycle regulation, genome stability maintenance, and related pathways. Here, we have evaluated genomic copy number variation CNV in genes implicated in the cell cycle pathway according to Kyoto Encyclopedia of Genes and Genomes-KEGG within a cohort of patients with intellectual disability, autism, and-or epilepsy, in which the phenotype was not associated with genomic rearrangements altering this pathway. Benign CNVs affecting 20 genes of the cell cycle pathway were detected in 161 out of 255 patients 71.6%. Among them, 62 individuals exhibited >2 CNVs affecting the cell cycle pathway. Taking into account the number of individuals demonstrating CNV of these genes, a support for this hypothesis appears to be presented. Accordingly, we speculate that further studies of CNV burden across the genes implicated in related pathways might clarify whether zygotic genomic variation generates somatic mosaicism in health and disease.

Autor: Ivan Y. Iourov, Svetlana G. Vorsanova, Maria A. Zelenova, Sergei A. Korostelev, and Yuri B. Yurov



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