Exploring the Epigenome

A National Institutes of Health-funded consortium publishes 111 reference maps of DNA and histone marks.

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PIXABAY, PUBLICDOMAINPICTURESIn a culmination of a multiyear project to identify the chemical modifications of DNA and its associated proteins that regulate gene expression, members of the Roadmap Epigenome Consortium today (February 18) published their analysis of 111 different human epigenomes in Nature. The National Institutes of Health (NIH)-funded team’s analysis—comparing histone and DNA methylation, DNA availability, and other marks such as histone acetylation among the 111 genomes as well as 16 previously released annotated epigenomes from the Encyclopedia of DNA Elements (ENCODE) project—was accompanied by articles examining the patterns of chemical markers and chromatin structure in stem cells, Alzheimer’s disease, and cancer.

“It is definitely a milestone,” said Kristian Helin of the University of Copenhagen, who was not involved in the research. “It should mostly be credited for the enormous amount of work . . . that hopefully will serve as a very good guide for epigenome studies in the future.”

“The human epigenome is this collection of . . . chemical modifications on the DNA itself and on the packaging that holds DNA together,” explained study coauthor Manolis Kellis of MIT during a press conference. “All our cells have a copy of the same book, but they’re all reading different chapters, bookmarking different pages, and highlighting different paragraphs and words.” These chemical bookmarks, such as methylation and acetylation, help control which genes are transcribed into RNA ...

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