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Journal of pediatric genetics v.6 no.1, 2017년, pp.030 - 041  

Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors

Schenkel, Laila C. (Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada ) ; Rodenhiser, David (Children's Health Research Institute, London, Ontario, Canada ) ; Siu, Victoria (Children's Health Research Institute, London, Ontario, Canada ) ; McCready, Elizabeth (Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada ) ; Ainsworth, Peter (Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada ) ; Sadikovic, Bekim (Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada ) ;
  • 초록  

    There are more than 4,000 phenotypes for which the molecular basis is at least partly known. Though defects in primary DNA structure constitute a major cause of these disorders, epigenetic disruption is emerging as an important alternative mechanism in the etiology of a broad range of congenital and developmental conditions. These include epigenetic defects caused by either localized (in cis) genetic alterations or more distant (in trans) genetic events but can also include environmental effects. Emerging evidence suggests interplay between genetic and environmental factors in the epigenetic etiology of several constitutional “epi/genetic” conditions. This review summarizes our broadening understanding of how epigenetics contributes to pediatric disease by exploring different classes of epigenomic disorders. It further challenges the simplistic dogma of “DNA encodes RNA encodes protein” to best understand the spectrum of factors that can influence genetic traits in a pediatric population.


  • 주제어

    pediatric diseases .   DNA methylation .   genetic syndromes .   epigenetics .   environmental exposures .   imprinting.  

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