Wednesday, April 1

Human genome will be published in its entirety


Years of research finally yield results; faculty will be able to access data

By Hemesh Patel
Daily Bruin Staff

Nearly a century after Gregor Mendel laid down the basic rules
of genetics with his experiments on pea plants, two scientific
journals will be releasing the sequence of the entire human
genome.

Today’s issue of Nature and Friday’s publication of
Science magazine will each release two separate versions of the
data and in-depth analyses of the 3.2 billion-base pair
sequence.

Science Magazine will provide analysis of the sequence developed
by the private company Celera, whereas Nature will publish findings
on the data from the public International Human Genome Sequencing
Consortium.

“This is the first time the entire human genome sequence
will ever be published,” said Utpal Banerjee, a professor in
UCLA’s department of molecular cell and developmental
biology.

But the sequence is currently in a raw state. Chair of human
genetics at UCLA Leena Peltonen, who provided her insight on the
subject in Science Magazine, compared the human genome to a
book.

“We have all the words of the story but we do not yet have
the meaning,” Peltonen said. “There are a number of
spelling errors and some paragraphs are not in the right
order.”

Scientists will be able to make sense of the data with further
analysis and research. Those directly involved in the project say
they will never get to the point of completely mastering and
comprehending all of the subtleties that reside in the human
genome, said Edward McCabe, chief of the Mattel Children’s
Hospital at UCLA.

“Right now, nobody understands it. There still is a lot of
work that needs to be done,” said Volker Hartenstein, a
professor in the molecular cell and developmental biology
department.

“Now that the sequence is published, it doesn’t mean
biologists can close shop,” he added.

Hartenstein said the potential for this information is
tremendous and will provide for a transition in the name of science
similar to the shift between the use of the typewriter to the
computer.

Access to this information will have a number of impacts that
are sure to change the face of science.

Peltonen narrowed down the list to three main effects.

First, the human genome sequence is similar to a history book.
It will tell scientists how the human species developed from
primitive organisms to what it is today, Peltonen said.

A number of different stretches of sequences are similar to
those of different organisms, including the fly and even yeast.

Secondly, the information provides a blueprint to all the cells
in the body.

Future analysis of the sequence will provide scientists with an
understanding of which genes control the different types of cells
in the body.

Third, physicians will gain a greater understanding of different
diseases.

“We will now be able to find links between common diseases
such as heart disease, cancer and diabetes,” McCabe said.

But others believe having this information is only a small part
of the overall picture of genetics today.

“Having these sequences available means very
little,” said Patrick Frost, a post-doctoral fellow in
psychoneuroimmunology. “We have a lot of genetic information
on cancer, for example, but there still is no cure
today.”

Many people have raised moral concerns along with the positive
aspects of having such information publicly available.

“When profit comes into play, there is a potential for
abuse,” Frost said.

For example, he said, insurance companies can discriminate
against people if they link a particular patient’s sequence
to that of a certain disease.

The Human Genome Project, which was launched a decade ago, made
great progress in the last two to three years.

The first five to six years was a struggle, Peltonen said, but
as technology improved, work began to move more quickly.

Researchers have already determined the genomic sequences of 65
different organisms, including yeast, the worm, and most recently,
rice.

Although further analysis of the human genome project still
needs to be completed, scientists have already begun to see
correlations between humans and other forms of life.

“What was a great surprise to many was that the human
genome only has two and half more genes than the fly,”
Peltonen said.

Scientists expected humans to have between 80,000 to 100,000
genes but the genome now seems to contain 30,000 to 40,000
different genes ““ only one third more than that of a worm,
McCabe said.

Six months ago, scientists released the sequence of Drosophila
Melanogaster, the fruit fly.

Hartenstein, whose research concentrates on the development of
Drosophila, said the database of the fruit fly’s genome has
dramatically sped up his work.

The entire human genome sequence will not be printed in the two
journals but will be available to the public online through the
Celera and Human Genome Project Web sites.

“Printing the entire database of information for the human
genome would be like printing 800 bibles,” Peltonen said.

McCabe said the genome sequence is 95 percent complete and the
general guess is that the two versions do not contain the same 95
percent of the sequence.

Scientists will have the potential to correct errors and fill in
gaps of the sequence with the availability of the two versions of
the human genome.

“It will be interesting to compare the two different
sequences,” McCabe said. “The University of California
has signed an agreement with Celera, so that investigators, for a
fee, will have access to the private database.”

Those at UCLA will have full access to the public database from
the International Human Genome Sequencing Consortium and access to
1 million base pair stretches of the sequence from Celera’s
version. The journals are available at www.sciencemag.org
and www.nature.com.


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