
Dispute as rival groups publish details of human genome
The two groups that are
sequencing the human genome
published full sequence and
mapping details of their first
drafts this week, an event
marked by acrimonious fighting
between the rival scientists
involved.
The Human Genome Project, an international collaboration between eight publicly
funded university centres, published its sequence data in the
journal Nature. Its data have
been posted daily on the internet since the project began and
are freely available. The project
estimates that in the past two
months researchers in the developing world have accessed its
genome database over 300 000
times.

Sir John Sulston: "We are here to tell them that the human genome is
not for sale" ULRIKE PREUSS |
In contrast, the commercial
enterprise Celera Genomics,
which published its data in the
journal Science, only allows paid
subscribers to access its data.
Science took the unprecedented
step of agreeing to impose some
restrictions on the use of the
published Celera data. The
Human Genome Project,
angered by the way that these
restrictions discriminate against
scientists in poor countries,
claimed that Celera had
attracted fewer than 50 paying
customers.
"Others want to charge the
rest of the human race a fortune,
but we are here to tell them that
the human genome is not for
sale," said Sir John Sulston, former director of the Sanger
Centre in Cambridge, which
sequenced a third of the public
project's genome.
"Our international publicly
owned data," he said, "are benefiting local communities." The
sequence data, he explained, are
being used by scientists in the
developing world to study genetic variations in susceptibility to
common fatal diseases, such as
diarrhoea, malaria, and AIDS.
Craig Venter, Celera's founder, dismissed the accusations of profiteering as "a minor
squabble between scientists,"
and Barbara Jasny and Donald
Kennedy, the editors of Science,
said that the rivalry "detracts
from the awesome accomplishment jointly unveiled this week." But while the Science editors
talked of "a marriage between
public funding and private
entrepreneurship," the public
project claimed that the relationship was far from equal, and that
Celera's shotgun method for
assembling sequence data relied
on the public genome database.
Richard Durbin, the deputy
director and head of bioinformatics at the Sanger Centre,
said: "They [Celera] have relied
very heavily on the work we put
in to put together our sequence.
The message at the end is that,
although they have added some
new material, overall the results
are remarkably comparable."
Despite the different sequencing techniques used by
the two groups, both agreed
that the human genome contains far fewer genes than was
originally estimated when their
first working drafts were
announced last year (BMJ
2000;321:7). The drafts suggested that
there might be up to 115 000
genes, but the final number is
between 30000 and 40 000,
making the human genome only
twice as large as that of the fruit
fly.
The surprisingly small size of
the genome led to widespread
media speculation that our environment must influence our
development more than our
genes do. But both groups
rejected this notion, pointing
out that our genes must
interact in a myriad ways
to drive human complexity,
variation, and disease.
"The notion that one gene
equals one disease," said Dr Venter, "or that one gene produces
one key protein, is flying out the
window."
Another key finding is that
humans share many of their
genes with simple organisms half with nematodes and a fifth
with yeast. Michael Dexter,
director of the Wellcome Trust,
which has committed £210m
($315m) to the public project,
believes that this confirms Darwin's theory of evolution. "It's
great to be getting the molecular
correlates of what Darwin
hypothesised 150 years ago," he
said.
More than a third of the
genome contains repetitive
DNA sequences ("junk DNA"),
much more than in any other
genome sequenced to date.
Scientists now believe that far
from being useless, these DNA
repeats have been crucial to the
evolution of the human
genome, mediating the creation of new genes. "The junk
in the genome," said Richard
Gallagher, Nature's chief biology editor, "offers a window
into our history. There are a
huge number of stories to be
uncovered."
Publication of the human
genome ushers in a new era of
post-genomic science, in which
researchers will use the data to
try to understand the causes of
diseases and to develop new
treatments. A paper published
in Nature, for example, suggests
that the draft sequence will help
us to understand the biology of
drug addiction by enabling us to
identify "addiction vulnerability
genes" (Nature 2001;409:834-5).
Other papers point to how the
sequence data could provide
new treatments for sleep disorders and jet lag.
Sequence data, plus commentaries
and analyses, are available at
www.nature.com/genomics/human
and www.sciencemag.org/genome
2001
Gavin Yamey BMJ
Other papers point to how the
sequence data could provide
new treatments for sleep disorders and jet lag.
Sequence data, plus commentaries
and analyses, are available at
www.nature.com/genomics/human
and www.sciencemag.org/genome
2001

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