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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Int+J+Genomics
2015 ; 2015
(ä): 757680
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Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway:
Implications for Somatic Mosaicism
#MMPMID26421275
Iourov IY
; Vorsanova SG
; Zelenova MA
; Korostelev SA
; Yurov YB
Int J Genomics
2015[]; 2015
(ä): 757680
PMID26421275
show ga
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.