The History of Epigenetics Explored

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The second issue of the Journal of Epigenetics is now (partially) available online, with free online access to this new journal through the end of 2006. The issue contains an informative historical overview of the field of epigenetics, beginning with the coinage of the term “epigenetics” by Conrad Waddington to help merge the fields of developmental biology and genetics.

Building on the work of Waddington and others, the article delves further into the efforts made by scientists over the last thirty years to explain how some differentiated cell types, such as fibroblasts and lymphocytes, “stably maintain their phenotype through cell division.” The notion that the methylation of DNA could affect gene expression, and that these methylation patterns could be heritable, was proposed independently by two groups in 1975. That same year, other papers were published exploring the possibilities that eukaryotic organisms contained enzymes that restrict unmodified DNA, and that methylation patterns in cancer cells could affect gene expression. Interestingly, none of the papers used the word “epigenetics.”

Author Robin Holliday also uses this publication to review the two definitions for epigenetics that were proposed in 1994, along with the role that his own 1987 paper, “The inheritance of epigenetic defects,” played in increasing the use of the word “epigenetics” throughout the 1990’s.

Other important topics discussed in this paper are the key differences between genetic and epigenetic mechanisms, the potential role and evidence for chromatin configuration affecting epigenetic inheritance, and the importance of clearly defined terminology, such as “epigenotypes,” as The Human Epigenome Project attempts to get underway. Link

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