First comprehensive atlas of human gene activity released

March 26, 2014

A large international consortium of researchers has produced the first comprehensive, detailed map of the way genes work across the major cells and tissues of the human body. The findings describe the complex networks that govern gene activity, and the new information could play a crucial role in identifying the genes involved with disease.

"Now, for the first time, we are able to pinpoint the regions of the genome that can be active in a disease and in normal activity, whether it's in a brain cell, the skin, in or in hair follicles," said Winston Hide, associate professor of bioinformatics and computational biology at Harvard School of Public Health (HSPH) and one of the core authors of the main paper in Nature. "This is a major advance that will greatly increase our ability to understand the causes of disease across the body."

The research is outlined in a series of papers published March 27, 2014, two in the journal Nature and 16 in other scholarly journals. The work is the result of years of concerted effort among 250 experts from more than 20 countries as part of FANTOM 5 (Functional Annotation of the Mammalian Genome). The FANTOM project, led by the Japanese institution RIKEN, is aimed at building a complete library of .

Researchers studied human and using a new technology called Cap Analysis of Gene Expression (CAGE), developed at RIKEN, to discover how 95% of all human genes are switched on and off. These "switches"—called "promoters" and "enhancers"—are the regions of DNA that manage gene activity. The researchers mapped the activity of 180,000 promoters and 44,000 enhancers across a wide range of human cell types and tissues and, in most cases, found they were linked with specific cell types.

"We now have the ability to narrow down the genes involved in particular diseases based on the tissue cell or organ in which they work," said Hide. "This new atlas points us to the exact locations to look for the key genetic variants that might map to a disease."

More information: "A promoter-level mammalian expression analysis," Alistair R. R. Forrest; Hideya Kawaji; J. Kenneth Baillie; Michiel J. L. de Hoon; Timo Lassmann; Masayoshi Itoh; Kim M. Summers, Harukazu Suzuki, Carsten O. Daub, Jun Kawai, Peter Heutink, Winston Hide, Tom C. Freeman, Boris Lenhard, Vladimir B. Bajic, Martin S. Taylor, Vsevolod J. Makeev, Albin Sandelin, David A. Hume, Piero Carninci and Yoshihide Hayashizaki, Nature, March 27, 2014. dx.doi.org/10.1038/nature13182

Related Stories

Recommended for you

Study identifies 'major player' in skin cancer genes

July 27, 2015

A multidisciplinary team at Yale, led by Yale Cancer Center members, has defined a subgroup of genetic mutations that are present in a significant number of melanoma skin cancer cases. Their findings shed light on an important ...

Researchers find gene associated with thinking skills

July 15, 2015

An international team of researchers, including investigators from the University of Mississippi Medical Center (UMMC), has identified a gene that underlies healthy information processing—a first step on a complicated road ...

Rsu1 gene linked to regulation of alcohol consumption

July 14, 2015

(Medical Xpress)—A large team of international researchers has found a link between the Rsu1 gene and the degree of impact of alcohol consumption on both fruit flies and humans. In their paper published in Proceedings of ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.