What is the Human Genome Project?

The Human Genome Project is an international research effort to determine the sequence of all 3 billion base pairs of DNA in the human genome and to identify all human genes and their chromosomal locations. Another important goal of the project is to sequence the genomes of organisms that are used in research as models of how human beings function—such as mice, fruit flies, and roundworms. Because many genes have similar sequences and functions among different species, the study of genes from so-called model organisms will help scientists interpret human DNA sequence information and gain insights into evolution.

The project is coordinated in the United States by the National Human Genome Research Institute at the National Institutes of Health (NIH) in Bethesda, Maryland, and the U.S. Department of Energy (DOE). Other participating countries include the United Kingdom, France, Germany, Japan, and China. All sequence information generated through the Human Genome Project is deposited immediately in public databases that are available on the Internet for anyone to see and use.

Eric Lander of the Whitehead Institute/MIT Center for Genome Research, Francis Collins of the National Institutes of Health, John Sulston of the Sanger Center in the United Kingdom, Robert Waterston of Washington University, and Craig Venter formerly of Celera Genomics, a private company in Rockville, Maryland, are generally recognized for having made major contributions to the Human Genome Project’s sequencing effort. Lander has also taken a leading role in sequencing the mouse and rat genomes.

The human genome sequence information, although not yet complete, is already being used to increase our understanding of human biology. In the future, scientists hope to apply it to providing better medical treatments. For example, Stuart Schreiber at Harvard University is using genome sequence information to help identify gene products potentially relevant to different diseases and to design small molecules that block or in some way change the function of these proteins.

The Human Genome Project officially began in 1990 and is scheduled to be completed in 2003. However, although a draft sequence of the human genome was completed in June 2000 and scientists expect to obtain a complete and highly accurate reference sequence by 2003, the genome project will be difficult to declare complete. Small gaps will continue to be filled for many years to come. The DNA of only a very small number of people is represented in the sequence, and efforts are ongoing to sample human allelic diversity. While several model organisms have been sequenced, many more important species—including the chimpanzee and various bacteria—are in the queue. Finally, many view the real payoff of the genome project to be an understanding of the workings of all the various proteins directed by these genes—an endeavor that will keep many future generations of biologists busy.

Scientists first discussed the possibility of analyzing the entire human genome sequence in the 1980s. The first critical scientific advance that made this idea feasible was the discovery of the double helical structure of the DNA molecule in 1953 by Francis Crick and James Watson. (They shared the Nobel Prize with Maurice Wilkins in 1962.) In the mid-1970s, Frederick Sanger developed techniques to sequence DNA. (For this accomplishment, Sanger won his second Nobel Prize in 1980; the first was in 1958 for studies of protein structure.) At first the technique was cumbersome and difficult to perform, but technical advances over the next decade permitted the automation of DNA sequencing.

In light of these advances, in the mid-1980s the U.S. Congress funded both NIH and DOE to explore the concept of a human genome project. In 1990 NIH and DOE laid out a joint research plan in a report titled Understanding Our Genetic Inheritance: The Human Genome Project, The First Five Years, Fiscal Years 1991–1995. The plan initially established goals for the first five years of a project that scientists thought would take 15 years to complete, but further advances in sequencing technology allowed the project to proceed faster.

At a White House press conference in June 2000, scientists announced a "working draft" sequence of the human genome, which provides the sequence of an estimated 90 percent of all human genes. Human Genome Project scientists were not alone in having accomplished the feat. Working independently, Craig Venter and other scientists at Celera Genomics also produced a draft sequence of the human genome.

The Human Genome Project and Celera Genomics concurrently published the details of the human genome working sequence in the scientific journals Nature (February 15, 2001, issue) and Science (February 16, 2001, issue), respectively. Eric Lander was first author on the Nature paper. The working sequence provided by each group contains gaps and errors but serves as a reference for building a complete and accurate sequence by 2003.

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