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First Comprehensive Map of Human Gene Activity Produced

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. Credit: © rolffimages / Fotolia

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.
Credit: © rolffimages / Fotolia

With the joint efforts of the many researchers from some countries, the first comprehensive and detailed map has been produced to explain the operation of the genes across the major cells and tissues of the human being. Such atlas presents a description of the complex networks governing the gene activity, which could play a crucial part in identification of the genes related with disease.

As Mr. 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 said–It is the first time that they were able to identify the regions of the genome that could be active in normal activity and in a disease, no matter where it was in a brain cell, in blood stem cells, the skin, or in hair follicles. Such finding shows the big advance which will largely enhance the ability of scientists to know well about the causes of various kinds of diseases across the body.

On March 27, 2014, this research is summarized in two papers published in the journal Nature and 16 in other academic journals. As part of the Project FANTOM 5 –Functional Annotation of the Mammalian Genome, 250 scientists from more than 20 countries have joined hands together to achieve such result through close and coordinated efforts. The Project FANTOM was by RIKEN, the Japanese institution. Its aim was to establish a complete library of human genes.

By resorting to a new technology called CAGE (Cap Analysis of Gene Expression), which was developed at RIKEN, the researchers are engaged in the study of human and mouse cells. As a result, they have found how 95% of all human genes are switched on and off. Such “switches” – scientists also call them as “promoters” and “enhancers” — are the regions of DNA that are important in management of gene activity. With a large range of human cell types and tissues, the researchers have studied carefully the activity of 180,000 promoters and 44,000 enhancers and found in most situations, they have close links with specific cell types.

When talking of the importance of their research, Professor Winston Hide said that now we were able to target clearly on the genes related to the particular diseases on the basis of how they work in the tissue cell or organ. This new atlas will lead the scientists to identify the exact locations where they could look for the key genetic variants causing a disease.

(FANTOM 5 is funded by a research grant from RIKEN and from Innovative Cell Biology)

Source: Harvard School of Public Health

Reference:

  1. Alistair R. R. Forrest et al. A promoter-level mammalian expression atlas.Nature, 2014; 507 (7493): 462 DOI: 10.1038/nature13182

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