CMAJ • January 31, 2006; 174 (3). doi:10.1503/cmaj.050774.
© 2006 CMA Media Inc. or its licensors
All editorial matter in CMAJ represents the opinions of the authors and not necessarily those of the Canadian Medical Association.
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Epigenetics and human disease: translating basic biology into clinical applications

David Rodenhiser and Mellissa Mann

From the EpiGenWestern Research Group at the Children's Health Research Institute (Rodenhiser, Mann) and the Departments of Biochemistry (Rodenhiser, Mann), Paediatrics (Rodenhiser), Oncology (Rodenhiser), and Obstetrics and Gynecology (Mann), University of Western Ontario, and the London Regional Cancer Program, London Health Sciences Centre (Rodenhiser), London, Ont.


Figure 124
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  		Fig 1: (A) Schematic of epigenetic modifications. Strands of DNA are wrapped around histone octamers, forming nucleosomes. These nucleosomes are organized into chromatin, the building block of a chromosome. Reversible and site-specific histone modifications occur at multiple sites through acetylation, methylation and phosphorylation. DNA methylation occurs at 5-position of cytosine residues in a reaction catalyzed by DNA methyltransferases (DNMTs). Together, these modifications provide a unique epigenetic signature that regulates chromatin organization and gene expression. (B) Schematic of the reversible changes in chromatin organization that influence gene expression: genes are expressed (switched on) when the chromatin is open (active), and they are inactivated (switched off) when the chromatin is condensed (silent).3 White circles = unmethylated cytosines; red circles = methylated cytosines.

 

Figure 124
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  		Box 1.

 

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  		Table 1.