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- Title
Epigenetic silencing of genomic structural variations.
- Authors
Skryabin, N.; Vasilyev, S.; Lebedev, I.
- Abstract
A great amount of copy number variations (CNVs) are identified in the human genome. Most of them are neutral; nevertheless, the role of CNVs in the pathogenesis of hereditary diseases is still significant. Especially, this is important for neuropsychiatric disorders, such as intellectual disability and autism. When analyzing the CNV-associated diseases, the controversial question is to distinguish the pathogenic CNVs among common polymorphic variants and to predict the disease risk in other children of the family. Unfortunately, the mechanisms of phenotypic expression and incomplete penetrance of CNVs remain largely unknown. Currently, incomplete penetrance and variable expressivity of CNVs are attributed mainly to allelic interaction of different genetic variations. However, epigenetic mechanisms of gene expression regulation in the context of structural variation of the genome are poorly explored. It is possible that epigenetic modifications of the genome regions with CNVs may underlie the understanding of ways of phenotypic manifestations of structural variations in the human genome.
- Subjects
EPIGENETICS; GENE silencing; DNA copy number variations; HUMAN genome; GENETIC disorders; NEUROBEHAVIORAL disorders
- Publication
Russian Journal of Genetics, 2017, Vol 53, Issue 10, p1072
- ISSN
1022-7954
- Publication type
Article
- DOI
10.1134/S1022795417100106