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发帖数: 11148 | 1 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 blood stem cells 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 human genes.
Researchers studied human and mouse cells 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." |
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