Scientists describe map for human genome
A team of more than 400 scientists, including some from the CRG and CNAG in Barcelona, reveal that 95% of “junk DNA” is useful and important
A team of 442 scientists from around the world working with the ENCODE consortium has revealed that much of what had been called junk DNA in the human genome —which was believed to have no specific function— is actually a massive control panel with four million switches that regulate the activity of our genes. Without these switches, genes wouldn’t work and mutations in these regions might lead to human disease.
The first findings of the ENCODE project were presented five years ago, and in 2010 Barcelona hosted an internal meeting of consortium representatives organized under the framework of B·Debate (then known as the International Center for Scientific Debate). Now, definitive findings are opening up new avenues in biomedical research like the identification of new cancer therapies.
ENCODE is headed up by the US National Genome Research Institute (NHGRI) and the European Bioinformatics Institute (EMBL-EBI), with 32 other participating laboratories from the United Kingdom, the United States, Spain, Singapore, Japan and Switzerland, including 20 researchers from the Center for Genomic Regulation (CRG) and the National Genome Analysis Center (CNAG) de Barcelona.
ENCODE data is an essential resource for researchers to help understand human biology and diseases.
The findings have been published in 30 connected, open-access papers in three science journals: Nature, Genome Biology and Genome Research. The ENCODE data is so complex that the three journals have developed a groundbreaking method to integrate the information, so that readers can follow their area of interest between papers and back to the original data.
"The Human Genome Project showed that only 2% of the genome contains genes, the instructions to make proteins. With ENCODE, we can see that around 80% of the genome is actively doing something. We found that a much bigger part of the genome is involved in controlling when and where proteins are produced," explains Ewan Birney of the EMBL-EBI and lead analysis coordinator for the project.
The CRG and CNAG contribution
Roderic Guigó, coordinator of the CRG Bioinformatics and Genomics Program and Professor at Pompeu Fabra University, has led the RNA analysis group made up of scientists from the CRG and CNAG, which has participated in the analysis of the genome’s transcriptional activity. Their research has been published in two articles in Nature, four in Genome Research and two in Genome Biology. They have also designed the cover of a special edition of Genome Research, inspired by the work of Catalan painter Joan Miró.
Participating in the ENCODE project has been both challenging and rewarding for the Catalan researchers. As have the logistics. "The ENCODE project has set new standards for scientific cooperation," says Roderic Guigó. "We have been working very closely with scientists all over the globe. We had weekly teleconferences with scientists from California, the United Kingdom, Switzerland, Singapore and Japan. It was 6 am for the California scientists, but midnight for the Japanese."
The ENCODE project is just the first step in the long and complex task of deciphering the meaning of the genome sequence. "This is actually the challenge of 21st century Biology. As researchers we feel privileged to be contributing to this project," explains Guigó. He also adds, "The possibility for scientists in our country to participate in such scientifically relevant international projects depends critically on strong and decisive support for scientific research."
Related article: Decoding the Syntax of Life, Dr. Roderic Guigó (15/12/2010)