![](/images/graphics-bg.png)
Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism
Joint Authors
Iourov, Ivan Y.
Zelenova, Maria A.
Korostelev, Sergei A.
Vorsanova, Svetlana G.
Yurov, Yuri B.
Source
International Journal of Genomics
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-09-01
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Iourov, Ivan Y.& Vorsanova, Svetlana G.& Zelenova, Maria A.& Korostelev, Sergei A.& Yurov, Yuri B.. 2015. Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism. International Journal of Genomics،Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1066042
Modern Language Association (MLA)
Iourov, Ivan Y.…[et al.]. Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism. International Journal of Genomics No. 2015 (2015), pp.1-7.
https://search.emarefa.net/detail/BIM-1066042
American Medical Association (AMA)
Iourov, Ivan Y.& Vorsanova, Svetlana G.& Zelenova, Maria A.& Korostelev, Sergei A.& Yurov, Yuri B.. Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism. International Journal of Genomics. 2015. Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1066042
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1066042