Genome center is major contributor to ‘finished’ human genome sequence

Researchers at Washington University School of Medicine in St. Louis and colleagues in the International Human Genome Sequencing Project have published their scientific description of the finished human genome, reducing the estimated number of human genes from 35,000 to only 20,000-25,000, a surprisingly low number for our species.

The paper appears in the Oct. 21 issue of Nature.

“Not very long ago, we thought a reasonable estimate for the total number of human genes might be about 100,000,” says Richard K. Wilson, Ph.D., director of the Genome Sequencing Center at Washington University. “Our first analysis of the working draft of the genome three years ago lowered that estimate to 30,000 to 35,000 genes, and now our clearest look yet has brought the estimate even lower.”

Scientists from the Genome Sequencing Center (GSC) at the School of Medicine were significant contributors to the finished product, helping to determine the identity of an estimated 30 to 40 percent of the 3 billion base pairs that make up human DNA.

The GSC has been a leader in developing innovative new methods for sequencing DNA. Researchers there have helped expedite, automate and conduct efforts to sequence human DNA and the DNA of several other species including mouse, chicken, chimpanzee, microscopic organisms like the roundworm C. elegans, and plants such as the weed Arabadopsis Thalania and moss.

To rapidly and effectively harness human genome information and other basic research for the improvement of patient treatment and diagnosis, Washington University last year launched a new initiative known as BioMed 21. The effort promotes general interdisciplinary collaboration, but also puts a special emphasis on collaborations that harness information and expertise available at the GSC.

The National Human Genome Research Institute and the U.S. Department of Energy led the international consortium of researchers that produced the final human genome map. The new paper proves that the finished genome sequence has both the high coverage and the accuracy needed to perform sensitive analyses, such as those focusing on the number of genes, segmental duplications involved in disease and the “birth” and “death” of genes over the course of evolution.

More than 2,800 researchers who took part in the International Human Genome Sequencing Consortium share authorship on the Nature paper, which expands upon the group’s initial analysis published in Feb. 2001. Even more detailed annotations and analyses have already been published for chromosomes 5, 6, 7, 9, 10, 13, 14, 19, 20, 21, 22 and Y. Publications describing the remaining 12 chromosomes are forthcoming.

The International Human Genome Sequencing Consortium includes scientists at 20 institutions located in France, Germany, Japan, China, Great Britain and the United States. The five largest sequencing centers are located at: Baylor College of Medicine; the Broad Institute of MIT and Harvard; DOE’s Joint Genome Institute, Walnut Creek, Calif.; Washington University School of Medicine; and the Wellcome Trust Sanger Institute.

The full-time and volunteer faculty of Washington University School of Medicine are the physicians and surgeons of Barnes-Jewish and St. Louis Children’s hospitals. The School of Medicine is one of the leading medical research, teaching and patient care institutions in the nation, currently ranked second in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Children’s hospitals, the School of Medicine is linked to BJC HealthCare.