ArticleInternational journal of genomics2015
Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism.
Article in International journal of genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Somatic mosaicism in the diseased brain.Molecular cytogenetics · 2022Review
- Svetlana G. Vorsanova (1945-2021).Molecular cytogenetics · 2022Article
- Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis.Molecular cytogenetics · 2021Article
- The Cytogenomic "Theory of Everything": Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging.International journal of molecular sciences · 2020Article
- Review
- The variome concept: focus on CNVariome.Molecular cytogenetics · 2019Article
- Pathway-based classification of genetic diseases.Molecular cytogenetics · 2019Article
- Laundering CNV data for candidate process prioritization in brain disorders.Molecular cytogenetics · 2019Article
- Mosaic Brain Aneuploidy in Mental Illnesses: An Association of Low-level Post-zygotic Aneuploidy with Schizophrenia and Comorbid Psychiatric Disorders.Current genomics · 2018Review
- Behavioral Variability and Somatic Mosaicism: A Cytogenomic Hypothesis.Current genomics · 2018Review
- Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain.Mechanisms of ageing and development · 2017Review
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Authors and funding
5 authors.
Funding
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Abstract
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.
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Registered trials
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