When computational biologist Greg Schuler typed 38 keystrokes onhis keyboard Thursday afternoon, he unleashed the sequences of16,354 human genes for use by all comers.
This genomic activation event took place at a press conference on theNational Institutes of Health (NIH) campus in Bethesda, Md. It was apivotal milestone in the 15-year, $3 billion international humangenome project.
Those 16,000-plus sequences represent one-fifth of the estimated80,000 protein-coding genes packaged in the 23 chromosomes ofevery human cell.
Schuler is a senior scientist at the National Center for BiotechnologyInformation (NCBI), an arm of NIH's National Library of Medicine(NLM). These three acronyms _ NCBI, NLM and NIH _ areencoded in the World Wide Web address that opens access to theInternet web site.
That address is: http://www.ncbi.nlm.nih.gov/SCIENCE96/.
Its terminal letters, "SCIENCE96," refer to today's issue of Science,which introduces the gene map to the scientific community, in apaper titled simply: "A gene map of the human genome." It's in aspecial "genome issue" section of the journal, (dated Oct. 25, 1996),devoted to scientific and societal issues in human genome research.
Schuler, a senior investigator at the NCBI, is first author of thatScience article. All told, its co-authors number 104 moleculargeneticists from 19 government, academic and commerciallaboratories in five countries _ the U.S., U.K., France, Canada andJapan. They make up the international consortium of gene-mappersthat came together 18 months ago to further their common goal ofmapping tens of thousands of human genes.
Computational biologist Mark Boguski, Schuler's co-author andprincipal collaborator, told BioWorld Today: "Any of the biotechcompanies, or even the big pharmaceuticals, which are usinggenomics to look for new drug targets to treat diabetes, asthma,neurodegenerative diseases, whatever, are going to be embarrassedby the riches of the candidate genes they get, when the web site isofficially turned on at 4 p.m. Friday."
Boguski explained: "Anyone with a genetic marker _ for instance fora diabetes susceptibility gene _ can type that marker into the web siteand see an inventory of positional candidate genes that they canprioritize, take to the lab and start looking for mutations."
He emphasized that this data base "is in the public domain, free, nostrings attached." That free-for-all availability "in part catalyzed thismassive genomic effort to map as many genes as there are in thepublic data base," he observed.
"If you take all the genes that have been accumulating over the lasttwo years," Boguski went on, "they were totally disorganized, likenames in the phone book with no addresses attached to them. Thismapping project has put street addresses on 16,000 of those, so whatyou get when you look at the map is quite literally an inventory ofone-fifth of all the possible genes in the region.
"Then, if you want to see the DNA sequence, get down to the A-G-C-T bases, they're just a couple of mouse clicks away."
About 10 percent of the 16,354 points on the map, Boguski pointedout, represent fully characterized genes. The rest are distinct DNAfragments of active genes, to let researchers know it's there, butneeds further work to reveal its form and function.
"This map not only adds tremendous value to the data that's alreadyin the public domain, but allows anyone with a proprietary data set tocome in and map their gene by inference, by comparing it to thepublic maps," he said. "I think that's the main message for acommercial biotech audience _ business person, venture capitalist aswell as researcher. They can look at this map and see what's going onin the genome project, how it can help them."
Value-Added For Old And Young
But, Boguski concluded: "Even a high school student could come inhere and understand the big picture of the genome. We put thistogether in a very user-friendly package, so for the first time a personwho's not an expert in the field can look at it and appreciate theenormity of the task, and how much progress we've already made."
Vice president Al Gore, after a preview of the NIH Internet site, saidthat "this literal thread of life . . . will advance our understanding ofthe genetic basis of baffling diseases . . . and puts students on thecutting edge of science by providing them with an instantaneous on-line educational tool containing the latest research information aboutgenes and their functions in both health and disease."
And Science ended its paper, "With continued efforts in the yearsahead, disease-gene hunts should be transformed into the systematicinterrogation of suspects, with revolutionary consequences for ourapproach to understanding genetic susceptibilities to disease." n
-- David N. Leff Science Editor
(c) 1997 American Health Consultants. All rights reserved.