Feb. 16, 2001

Fruits of Human Genome Project�s efforts highlighted in issues of Nature, Science

Issues of Science and Nature magazine this week contain detailed analyses of the human genome sequence working draft. The Nature papers analyze the sequence generated by the publicly sponsored U.S. Human Genome Project (HGP), while the Science publications focus on the draft sequence reported by the private company, Celera Genomics.

The Laboratory contributed to work behind the analyses as part of the Joint Genome Institute, located in Walnut Creek. Other labs involved in the JGI include Lawrence Berkeley and Los Alamos. Previously the three labs had worked individually until joining forces in 1996. Together, the JGI research accounted for 11 percent of the entire genome. LLNL scientists initially mapped chromosome 19, while LANL scientists worked on chromosome 16 and LBNL worked on chromosome 5 before joining forces through the JGI.

Most of the effort to map this genetic blueprint has been directed by three public institutions: the National Institutes of Health, the Department of Energy and England’s Sanger Center.

The analyses provide scientists worldwide with a virtual roadmap to an estimated 95 percent of all genes. All publicly generated HGP data are available on the Internet.

While the HGP draft sequence contains gaps and errors, it provides a valuable scaffold for generating the high-quality reference genome sequence — the ultimate HGP goal expected to be achieved by 2003 or sooner. This knowledge will speed the understanding of how genetics influencedisease development, aid scientists looking for genes associated with particular diseases, and contribute to the discovery of new treatments.

"We are eager to offer a future to our children and grandchildren in which cancer will be only a constellation in the sky," said Ari Patrinos, head of the DOE Human Genome Program.

Among the findings scientists revealed:

• The human genome — or the entire genetic blueprint – appears more compact than previously believed, with between 30,000 and 40,000 genes.

• Hundreds of human genes appear likely to have "resulted from horizontal transfer from bacteria," suggesting life’s functions have remained relatively constant over time and biological evolution.

• Most genetic mutation occurs in males. The male "Y" chromosome appears to be "under siege" and seems to have adopted measures to ensure its survival in what Nature calls "the battle of the sexes" with the larger female "X" chromosome.

For more information on the publicly generated genome data, see the Nature Website at http://www.nature.com/genomics/human/
For more information on the Joint Genome Institute, see http://www.jgi.doe.gov/