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article imageThe first comprehensive atlas of human gene expression

By Tim Sandle     Mar 30, 2014 in Science
Tokyo - A large international consortium has released the first comprehensive map of gene activity across the human body. It is hoped the findings can help to combat genetic diseases.
The project provides the first holistic view of the complex networks that regulate gene expression across the wide variety of cell types that make up a human being.
After many years of concerted effort to systematically analyse the expression of genes in all human cells and tissues, the Japanese institution Riken and the FANTOM (Functional Annotation of the Mammalian genome) consortium have published the findings in two reports in the journal Nature (“A promoter level mammalian expression atlas” and “An atlas of active enhancers across human cell types and tissues”).
FANTOM is an international research consortium established by Dr. Hayashizaki and his colleagues in 2000 to assign functional annotations to the full-length cDNAs that were collected during the Mouse Encyclopedia Project at Riken. Riken is Japan's largest research institute for basic and applied research.
The papers describe maps of promoters and enhancers. These are short regions of DNA that influence the activity of genes and which are encoded in the human genome. This data provides the first complete view of the networks regulating transcription across all cell types.
For the study, the researchers monitored the activity of promoters and enhancers across over 180 human primary cells. They identified 180,000 promoters and 44000 enhancers on the genome and find that the activity of the large majority of these transcriptional regulation regions is highly specific to cell type.
The implications of the findings will help in the identification of genes involved in disease and the development of personalized and regenerative medicine.
More about Genes, geentics, Dna, Human
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