THE HUMAN GENOME PROJECT A HISTORIC ANNOUNCEMENT
July 5, 2000
On June 26, 2000, two teams of scientists made the historic announcement that they have
assembled the complete human genome, containing a total of 3.12 billion base pairs of DNA.
Celera Genomics Inc., a PE Corporation business in Maryland, and the non-profit
international Human Genome Project worked independently to achieve this same result. Dr.
J. Craig Venter, President and Chief Scientific Officer of Celera, and Dr. Francis
Collins, Director of the National Human Genome Institute at the National Institutes of
Health, made the announcement last week.
Sequencing of the human genome, which involved determination of the exact order
of the four chemical bases (A, T, C and G) of long segments of human DNA, was completed in
April, 2000. The assembly phase, whereby the location and order of the genetic code
was determined, is now completed, and over 38,000 predicted genes have been confirmed. In
the next phase, analysis and annotation of the human genome, these located genes
will be further analyzed in order to begin understanding their function. Several thousand
additional genes will also be identified and subsequently analyzed. It is estimated that
there are at least 50,000 genes, and perhaps as many as 100,000 genes, in the entire human
Celera Genomics Inc. assembled the human genome, which consists of 23 pairs of
chromosomes, by utilizing the DNA of five individual donors, men and women from a variety
of ethnic backgrounds. Celeras scientists pioneered the "whole genome
shotgun" technique, in which the entire human genome was sheared into small
fragments that were sequenced and then assembled in order by using overlapping sequences.
Celera also included data from GenBank, a public database created primarily by the public
genome effort. Once the consensus genome data is published (which is expected later this
year), it will be freely available to academic researchers via Celeras web site.
The non-profit international Human Genome Project includes scientists from the United
States, France, Germany, Japan, China and Great Britain. Approximately half of the
projects total funding for the sequencing and assembly of the human genome ($300
million USD) is provided by the US National Institutes of Health. The Human Genome
Projects scientists used a "hierarchal shotgun" approach to assemble the
human genome. Individual large DNA fragments of known position were sheared into
smaller fragments, sequenced, and then reassembled on the basis of overlapping regions.
Canada has an outstanding reputation in the identification and sequencing of specific
genes. Several researchers across the country were the first in the world to identify a
number of genes, while receiving strong financial support from the Medical Research
Council of Canada through the Centres of Excellence program. About ten years ago, Dr.
Lap-Chee Tsuis research group at the Hospital for Sick Children in Toronto announced
the discovery of the cystic fibrosis gene on chromosome 7. Dr. Tsui is now part of the
Chromosome 7 Project at the hospital, and they have found other genes responsible for
autism, leukemia, and other developmental disorders. The Hospital for Sick Children now
also houses the Human Genome Database, an international electronic archive. In 1998, the
Medical Research Council of Canada (MRC) developed the Genome Canada Initiative,
committing $25 million in funding for genomic research over the next five years. Other
federal funding councils, including the National Research Council, have agreed to
participate in the development of the initiative.
For more information on research into the human genome, check out the following web
The Major Players:
Research in Canada:
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