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For someone who is interested in learning about the discovery of epigenetics, which are the foundational defining papers in the area?

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For epigenetics in humans, for me it's the Överkalix study on descendants of people who lived through the Dutch famine of the 1940s. –  Lisa Dec 21 '11 at 23:30
    
Disappointingly, the papers so far all highlight the heritability of epigenetics whose usefulness is rather limited, rather than epigenetics itself. –  Konrad Rudolph Feb 20 '12 at 13:30

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I understand that Robin Holliday was the first to discuss the possible role of DNA methylation in the control of Gene expression. In his paper "The inheritance of epigenetic defects" he presents what is one of the first modern formulations of what we now regard as epigenetics. The term "epigenetics" itself was coined by Conrad Waddington although this predated our modern understanding of heredity.

Holliday, R., The inheritance of epigenetic defects, 1987, Science, 238, 4824

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There are few single papers that really drive the field by themselves, epigenetics has been a long slow progression (although more recently the definition has been muddied and started to include non-epigenetic modes of gene regulation). A pretty good review of a lot of research, including a more circumspect discussion about what epigenetics is can be found in Youngson and Whitelaw's Annual Review (http://www.ncbi.nlm.nih.gov/pubmed/18767965).

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I found two nice review papers focused of epigenetics and human disease, one from 2004, and one from 2006. But perhaps you are looking more for something like this?

I also found this article in the BBC news: The Ghost in Your Genes

They have shown that a famine at critical times in the lives of the grandparents can affect the life expectancy of the grandchildren. This is the first evidence that an environmental effect can be inherited in humans.

References:

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@Lisa: In the BBC article they discuss the Överkalix study. –  Gergana Vandova Dec 22 '11 at 0:51

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