Journals To Publish Genome Data

Humans are 99.9 percent genetically identical and have only twice as many genes as the worm or the fly, according to information released yesterday by organizations that are sequencing the human genome.

Two separate reports by rival organizations--the International Human Genome Sequencing Consortium and Celera Genomics-- were released after many months of intense investigation and are already overturning some longstanding beliefs about human biology.

The full results, to be published in journals later this week, reveal that the actual number of human genes--about 30,000--is much smaller than previous estimates.

Information released yesterday also showed the following:

* In comparison to the genomes of other organisms, human genes tend to be distributed in clumps, with coded genes close together and long stretches of non-coding "junk" DNA;

*More than 200 genes in the human genome are most closely related to bacteria;

*The human genome has a larger percentage of junk DNA (50 percent) than the genomes of the mustard weed (11 percent) or the worm (7 percent);

*The ratio of mutations in males versus females is two to one. This may possibly be linked to the greater number of cell divisions involved in sperm formation versus egg formation.

The consortium, a public organization funded in the United States by the National Institutes of Health, will publish its results in the journal Nature on Thursday, while Celera Genomics, a privately funded company, will publish its results in Friday's edition of the journal Science.

Both organizations made announcements yesterday--several days before the reports will be published--because a British newspaper broke an established embargo and announced the news Sunday.

Leaders from both the consortium and Celera said they were excited for the new research opportunities the completed mapping of the genome-- which is also available on the Internet--will provide.

"This is a momentous occasion for all the scientists around the world who have worked to decode the billions of letters that make up the human genome," said J. Craig Venter, president of Celera.

"This announcement represents the end of the beginning for the Human Genome Project," said Francis S. Collins, director of the National Human Genome Research Institute in a press conference yesterday.

Members of the Harvard community said they were excited about the project's findings, which overturned some standard assumptions.

"I was surprised by the small number of genes they discovered," said Joshua LaBaer, an instructor in medicine and director of the Harvard Institute for Proteomics.

LaBaer cautioned, however, that the publication of the Human Genome Project results is only the beginning of an expansive research process.

"I think the one thing that does get overlooked a little bit is how much of a first step this really is," he said.

Daniel L. Hartl, chair of organismic and evolutionary biology, said the study will be a jumping-off point for future research endeavors.

"It starts a new era in genetics," Hartl said, who mentioned the project's publication in his Biological Sciences 50,"Genetics and Genomics" lecture yesterday.

"The challenge for the next century for biologists is to find out how organisms really work as molecular machines," he said.

Joanna L. Chan '01, a member of the Hippocratic Society, said the publication of the results marks "a big step in terms of possible gene therapy."

She also emphasized the need for extensive ethical discussion in addition to further scientific research.

The ethics of the Human Genome Project will also be the subject of a Feb. 20 roundtable discussion at the Harvard Medical School entitled "Pandora's Box?: The Social Implications of the Human Genome Project." The event will feature a keynote address by Collins.

--Staff writer Catherine E. Shoichet can be reached at shoichet@fas.harvard.edu