By MELANIE SEAL
Globe and Mail Update
On the birthdate of evolutionary theorist Charles Darwin, a
group of international scientists announced that they have
finally drawn the map of the human genome.
Researchers from the International Human Genome Sequencing
Consortium and Celera Genomics Corp. announced Monday that they
had assembled a map of the human genome that is 96-per-cent
complete. The map will be published in the Feb. 15 issue of
Nature.
The human genome, the book of life, will change the way
scientists do research and revolutionize medicine by increasing
knowledge about what makes us human.
Already it is has shown that humans have far fewer genes,
30,000 to 40,000, and only about twice as many as a fly or worm.
But many of them work very differently.
The first sequencing phase of the Human Genome Project, which
has also been called "The book of life," was announced
in June, 2000. Monday's announcement detailed the scientists'
attempts to analyze that sequence.
Based on a variety of detection methods, both groups have
managed to identify almost 40,000 protein-coding genes. Many
features of the DNA sequence and gene distribution over the 24
human chromosomes are also uncovered.
"If you have a large, complicated jigsaw puzzle of, say,
a forest scene, a number of trees may look alike," Dr. John
McPherson, author of the paper, said. "Making this map was
like simplifying that large puzzle by dividing it up into many
smaller puzzles, each containing one tree, then putting all the
pieces of the small puzzles together, and in turn putting all
the small puzzles together to make the whole forest. That way,
your can build one tree at a time, and then integrate them into
the whole picture."
The analysis revealed surprising new details about how the
human genome is organized and how it evolved. For example, the
genome contains only 30,000 to 40,000 genes, far fewer than the
100,000 estimate used for most of the past decade. That means
humans have only about twice as many genes as a fly or worm,
although many of them work very differently.
Scientists also revealed Monday information that they have
learned about the evolution of humans, the observation that some
human genes appear to have come directly from bacteria and
information about the mutation rate in men versus in women.
Another surprising discovery is that human DNA is 99.9 per
cent identical: Most DNA sequence variation between humans seems
to predate the time when our ancestors migrated out of Africa.
Therefore, the concept of homogeneous groups (or races) having
major biological differences is not consistent with genetic
evidence. The DNA sequence of our genes is 90 per cent identical
to mice and more than 98 per cent identical to primates.
At a news conference in Washington to discuss the genome map,
scientists said the project is only at the "end of the
beginning."
Professor Lap-Chee Tsui, president of the Human Genome
Organization (HUGO) said Monday's announcement is "only
scratching the surface of the human genome. There is still
plenty of work ahead of us to complete the human DNA sequence
and identify all of the genes."
"The truly daunting task is to understand the function
and characteristic of each of our genes, their intricate
relationships, and how they work in health and disease states of
our body. We also need better technologies to study proteins,
tools to handle bioinformatics, and methods to identify the
causes of common diseases," said Dr. Tsui, who is
geneticist-in-chief at Toronto's Hospital for Sick Children and
a professor of Molecular and Medical Genetics at the University
of Toronto.
Although scientists were celebrating the publications, the
euphoria was marred by squabbling among competing teams over
access to the information.
"It really is a gift to the world," Dr. Mike
Dexter, the director of the Wellcome Trust charity, which
contributed to the Human Genome Project, told a news conference.
the Human Genome Project is a publicly funded consortium of
hundreds of scientists around the world. "It should be
available for all to use and to update and to fill in the extra
details."
The Human Genome Project's findings are freely available on
genome databases for use by all scientists.
By contrast, Celera, the privately funded competing team,
reported their work in the journal Science with restrictions on
redistribution.
Scientists working on the Human Genome Project believe that
restricting the use of information about the human genetic code
will hamper medical research, particularly in the developing
world.
In the past two months, scientists have accessed information
from the public genome database hundreds of thousands of times,
but data from Celera have been used by fewer than 50 subscribing
organizations.
Pay-per-view arrangements, so popular for major sporting
events, are not right for the human genome, the scientists
argue.
"By maintaining the principle of equal and free access
to all, we are helping to lessen the gap between the rich
countries of the West and our colleagues in the poor parts of
the world," Dr. Dexter added.
Dr. John Sulston, leader of a British effort to sequence the
genome, said the information in the human genetic code is
relevant to all people and must be used to benefit all.
"The human genome is internationally, publicly owned.
That is what we are celebrating today. Freedom of information
and freedom of access," Dr. Sulston said. "It would
have been criminal to prevent the access to this
information."
Celera's Dr. Craig Venter defended his company's handling of
the sequence and its publication in Science. He also denied that
their information was being restricted.
"Our data is freely available to scientists
anywhere," he told BBC radio. "There are no
restrictions on the discoveries or the patentability or the
publication of it. What they (researchers) can't do is take our
data and try to set up a business to redistribute it to compete
with Celera, which paid for it using its own money."
Dr. Sulston acknowledged that the Celera sequence is bigger,
or has more information, but he added that half of data had come
from the public domain. Without the publicly funded effort, he
said, "not only would we have a privatized genome, we would
have no genome at all."
With a report from Reuters News Agency
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