ANTC62H3 Chapter : Epigenetics.doc

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6 Mar 2012
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The term epigenetics" defines all meiotically and mitotically heritable changes in gene expression that are not coded in the dna sequence itself. Three systems, including dna methylation, rna-associated silencing and histone modification, are used to initiate and sustain epigenetic silencing. Unravelling the relationships between these component has led to surprising and rapidly evolving new concepts, showing how they interact and stabilize each other (fig. Disruption of one or other of these interacting systems can lead to inappropriate expression or silencing of genes, resulting in epigenetic diseases". Multicellular organisms require mutually reinforcing mechanisms permitting heritable patterns of gene silencing. Mutations in genes that affect global epigenetic profiles can give rise to human diseases, which can be inherited or somatically acquired (table 1). Interestingly, many of these epigenetic abnormalities result in chromosomal alterations and learning disabilities. Several inherited syndromes are due to faulty genomic imprinting defined as parent-specific, monoallelic expression of a gene such as angelman"s syndrome, prader willi syndrome and.

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