-Caveat Lector-

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Date: Thu, 07 Dec 2000 12:51:37 -0500 (EST)
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Subject: Human Genome project leaves much of human variation unsampled

The first draft of the Human Genome, due to be published early next year,
represents only a fraction of the world’s human genetic diversity because the
sample used for the project does not include adequate representation from
sub-Saharan Africa. With more genetic variation occurring within human races,
rather than between them, the project’s exclusion of individuals from the
most variable human populations on the planet ignores the worldwide genetic
diversity of the human species and our evolutionary history, according to
Todd R Disotell an anthropologist from New York University writing in Genome
Biology. Despite our visual perception of the variation between races,
studies have shown that as much as 85% of all human variation occurs between
individuals of the same population while less than 10% of the variation was
between the major races – represented in the broadest sense by Africans,
Asians and Europeans. This pattern of diversity is largely accounted for by
human evolutionary history. Studies of human DNA from populations around the
world suggests a common African ancestry living some 200,000 years ago.
Modern theories of human evolution suggest that expansion of populations from
Africa began 100,000 years ago - giving nearly twice as much time for
variation to accumulate in sub-Saharan Africa as in the rest of the world,
writes Disotell. The announcement by Craig Venter, President and Chief
Scientific Officer of Celera Genomics, on June 26 2000 that his research
group had assembled the complete human genome should, Disotell argues, "be
viewed only as the first step in characterizing human diversity". The Celera
research group did not sample a complete human genome, rather they generated
a composite genome made up of three females and two males identifying
themselves as African-American, Asian, Caucasian and Hispanic. From these
data, Celera scientists concluded that, "the concept of race has no genetic
or scientific basis" - a quote that was widely cited. These conclusions,
while valid, cannot be deduced from the Celera data. "A scientifically more
viable strategy would be to examine many more sub-Saharan Africans than
non-Africans," writes Disotell, "because sub-Saharan African populations can
be expected to represent the majority of all human variation." In addition,
Disotell suggests that rather than sampling individuals from a mixed
population such as the USA – where household data surveys show that about 20%
of the population have close relatives from a racial group different from
their own – samples should be gathered from the regions themselves. The
genomes of the African-American population, for instance, have a distinct
European influence comprising about 7% of the gene pool in Jamaica and as
high as 26% of the African-American gene pool in some North American cities.
A controversial project to survey human genetic diversity, the Human Genome
Diversity Project, has been proposed in order to represent worldwide genetic
diversity. The proposal, still being modified to take into account ethical
and legal concerns, would collect together samples from a wide range of
populations from throughout the world thought best to represent human
diversity and would take into account our evolutionary history and known
patterns of variation among current human populations. "A human diversity
project has been made far more tractable by the work laid by Celera and the
publicly funded Human Genome Organisation’s impressive accomplishments, not
only in sequencing ‘the’ human genome but also in beginning to use it as a
map to discover the full extent of human genetic diversity," writes Disotell.
###
The electronic version of this article is the complete one and can be found
online at: <A 
HREF="http://genomebiology.com/2000/1/5/comment/2004">http://genomebiology.com/2000/1/5/comment/2004</A>

<A HREF="http://via.headlinewatch.com/r/2-118,51-103,8243093">Click here: Human Genome 
project leaves much of human variation unsampled</A>

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