By Randall Osborne
West Coast Editor
Saying researchers stood ¿on the shoulders of giants,¿ U.S. Secretary of Energy Bill Richardson declared another set of milestone advances in genetic exploration: the decoding ¿in draft form¿ of chromosomes 5, 16 and 19.
The chromosomes contain 10,000 to 15,000 genes, defects in some of which may lead to kidney disease, prostate and colorectal cancer, leukemia, hypertension, diabetes and atherosclerosis, Richardson said.
William Haseltine, chairman and CEO of Rockville, Md.-based Human Genome Sciences Inc. (HGS), said the research ¿once again confirms the technical power of the new methods, but it¿s not surprising in any way. The immediate application is remote.¿
Elbert Branscomb, director of the U.S. Department of Energy¿s Joint Genome Institute, called its accomplishment a critical step.
¿We now have the text,¿ Branscomb said. ¿What does the text mean, and how does it operate? Sequencing other organisms is critical to [further] understanding our genome, absolutely essential.¿
Branscomb said scientists are ¿just now getting the instruction sets for lots and lots of creatures. Only with those instruction sets in hand will we have a reasonable chance of understanding how they work, how they fail to work and how we fix them. Up until now, we¿ve been struggling in the dark, and this is suddenly, now, the domain of the light.¿
Chromosome 22, the first in the federally funded Human Genome Project, was sequenced last year, and an article in Nature detailed the work. (See BioWorld Today, Dec. 13, 1999, p. 1.)
Haseltine said the sequence is a ¿very nice¿ gathering of data, but cautioned against too much enthusiasm for it as a step in medicine.
¿The information they have about human genes is basically drawn from genes already known, and it¿s extremely difficult, if not impossible, to discover new genes by this method,¿ Haseltine said, adding that ¿at least half¿ of the genes HGS found on chromosome 22 ¿were completely overlooked by the people who annotated the genomes.¿
Chromosome 5 contains an estimated 194 million bases, or about 6 percent of the human genome. Disease-linked genes on this chromosome include those for colorectal cancer, basal cell carcinoma, acute myelogenous leukemia, salt-resistant hypertension and a type of dwarfism.
Chromosome 16 contains about 98 million bases, or about 3 percent of the human genome. Studies have implicated genes on this chromosome in the development of breast and prostate cancer, Crohn¿s disease and adult polycystic kidney disease.
Chromosome 19 contains 60 million bases, or about 2 percent of the human genome. Genes involved in repair of DNA damage as well as those associated with atherosclerosis and diabetes mellitus are located on chromosome 19.
¿Over time, the information will be helpful,¿ Haseltine said.
The information on chromosomes 5, 16 and 19 is available without restrictions to researchers in academia and industry through the public database, GenBank. Details about the chromosomes¿ draft sequence are expected to be published this summer in scientific journals.
The Joint Genome Institute began operating its high-throughput DNA sequencing factory in Walnut Creek, Calif., in January. The facility occupies about 30,000 square feet of space, and the institute will expand to a second building of the same size in June.
Established in 1997, the institute is one of the largest publicly funded human genome sequencing centers in the world. Three of the Energy Department¿s national laboratories operate it together: the Lawrence Berkeley National Laboratory, in Berkeley, Calif.; the Lawrence Livermore National Laboratory, in Livermore, Calif.; and the Los Alamos National Laboratory in Los Alamos, N.M. The University of California manages all three labs for the Energy Department.
Researchers are using sequencers provided by Uppsala, Sweden-based Amersham Pharmacia Biotech plc, which merged in 1998 with bioinformatics specialist Molecular Dynamics Inc., of Sunnyvale, Calif., in a $256 million, straight stock purchase deal. (See BioWorld Today, Aug. 11, 1998, p. 1.)
Amersham is a joint venture of Nycomed Amersham plc and Pharmacia & Upjohn, both of London.
Richardson spoke to journalists shortly after he reported the chromosome developments at the 25th Annual American Association for the Advancement of Science Colloquium on Science and Technology Policy in Washington.
He said more support is needed for the National Institutes of Health and the Human Genome Project.
¿They are producing rapid-fire results¿ that deserve more backing, he said.
¿This country has not had a strong science research budget,¿ despite efforts of some leaders, who have managed to include such plans for spending in early versions, Richardson added.
¿Many times, [the budget] is eviscerated by the time it gets back to the end of the fiscal year,¿ he said.