International Group Makes New Discoveries on Human Genome

The human genome is the set of genetic instructions in the cells, consisting of 23 pairs of chromosomes, found in the nucleus.

Washington — After nine years of collaboration, 440 researchers in 32 labs around the world are pushing scientific understanding of the human genome to a new level. Findings were announced by the National Human Genome Research Institute (NHGRI) September 5 as the team published its extensive findings in 29 different papers appearing in three scientific journals.

The new findings — known as the Encyclopedia of DNA Elements (ENCODE) — build on the 2003 announcement when the Human Genome Project identified all the 20,000–25,000 genes of human DNA and determined the sequences of the 3 billion chemical base pairs that make up human DNA. That scientific project consumed a multinational team for 13 years, and was considered a scientific achievement on the magnitude of an Apollo mission to the moon of the late 1960s and 1970s.

“During the early debates about the Human Genome Project, researchers had predicted that only a few percent of the human genome sequence encoded proteins, the workhorses of the cell, and that the rest was junk. We now know that this conclusion was wrong,” said Dr. Eric Green, director of the NHGRI. “ENCODE has revealed that most of the human genome is involved in the complex molecular choreography required for converting genetic information into living cells and organisms.”

ENCODE’s goal was to identify all the genome’s functional elements, even though the methods and strategies to achieve the goal were not fully evolved when the work began. The technology for analysis of DNA sequencing advanced as the project unfolded, increasing the boundaries of the undertaking as it went along, in a scale that is described as “remarkable,” in a NHGRI news release.

“We’ve come a long way,” said Ewan Birney of the European Bioinformatics Institute in the United Kingdom and a coordinator of analysis for ENCODE. “By carefully piecing together a simply staggering variety of data, we’ve shown that the human genome is simply alive with switches, turning our genes on and off and controlling when and where proteins are produced. ENCODE has taken our knowledge of the genome to the next level.”

Hundreds of researchers across the United States, the United Kingdom, Spain, Singapore and Japan conducted more than 1,600 sets of experiments on 147 types of tissue. They linked more than 80 percent of the human genome sequence to a specific biological function, and mapped more than 4 million regulatory regions where proteins interact with DNA to determine cellular development for specific functions of the body. ENCODE generated more than 15 trillion bytes of raw data and ate up more than 300 years of computer time throughout the analysis.

NHGRI program director Elise Feingold likens the ENCODE data to Google’s map feature, which allows users to magnify a particular area of interest and access a variety of different data on that area, including maps, states, streets and photos.

“The ENCODE maps allow researchers to inspect the chromosomes, genes, functional elements and individual nucleotides in the human genome in much the same way,” Feingold said.

The ENCODE consortium has made the data available on the Internet to other researchers, and the material is “rapidly becoming a fundamental resource for researchers to help understand human biology and disease,” according to the NHGRI press release. Investigators who were not part of ENCODE are already using the data in disease research, resulting in publication of more than 100 scientific papers that have drawn on the data, NHGRI said.

The 2003 findings mapping the genome were also made available to the global scientific community at the time, and the research that followed is considered the advent of the multibillion dollar U.S. biotechnology industry.

NHGRI will continue ENCODE research for at least another four years to better describe the functional genomic elements in all the different types of cells in the body.

NHGRI is one of the 27 institutes and centers that make up the National Institutes of Health, the United States frontline medical research agency, investigating the causes, treatments and cures for disease.