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As paediatricians we are all very familiar with the concept of inheriting genes from generation to generation via DNA commonly referred to as ‘genetics’. In contrast the term ‘epigenetics’ at present remains rather ill defined for many. This brief article aims to introduce the concept of epigenetics and explain the meaning and main mechanisms involved. Moreover, it intends to give a glimpse of the exciting future perspectives for research into epigenetic and its relevance to paediatrics.
The word ‘epigenetics’ is a combination of the prefix ‘epi-,’ (Greek: ɛπί- over, above, outer) and genetics. It was first introduced in 1942 by the British developmental biologist Conrad Waddington who coined the term epigenetics as ‘the branch of biology which studies the causal interactions between genes and their products which bring the phenotype into being’.1 The idea behind this concept was to summarise all biological processes that connect the genotype of a single cell or a multicellular organism with the phenotype. Today we all know that our genotype is coded by DNA, the double helix that provides a ‘blueprint’ for everything that is produced in eukaryotic cells including human cells. However, while …
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