[Paleopsych] NYT: Brain May Still Be Evolving, Studies Hint
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Sun Sep 18 01:26:41 UTC 2005
Brain May Still Be Evolving, Studies Hint
New York Times, 5.9.9
[This is merely the first of such studies. Future ones will go into more taboo
By NICHOLAS WADE
Two genes involved in determining the size of the human brain have
undergone substantial evolution in the last 60,000 years, researchers
say, leading to the surprising suggestion that the brain is still
undergoing rapid evolution.
The discovery adds weight to the view that human evolution is still a
work in progress, since previous instances of recent genetic change
have come to light in genes that defend against disease and confer the
ability to digest milk in adulthood.
It had been widely assumed until recently that human evolution more or
less stopped 50,000 years ago.
The new finding, reported in today's issue of Science by Bruce T. Lahn
of the University of Chicago, and colleagues, could raise controversy
because of the genes' role in determining brain size. New versions of
the genes, or alleles as geneticists call them, appear to have spread
because they enhanced brain function in some way, the report suggests,
and they are more common in some populations than others.
But several experts strongly criticized this aspect of the finding,
saying it was far from clear that the new alleles conferred any
cognitive advantage or had spread for that reason. Many genes have
more than one role in the body, and the new alleles could have been
favored for some other reason, these experts said, such as if they
increased resistance to disease.
Even if the new alleles should be shown to improve brain function,
that would not necessarily mean that the populations where they are
common have any brain-related advantage over those where they are
rare. Different populations often take advantage of different alleles,
which occur at random, to respond to the same evolutionary pressure,
as has happened in the emergence of genetic defenses against malaria,
which are somewhat different in Mediterranean and African populations.
If the same is true of brain evolution, each population might have a
different set of alleles for enhancing function, many of which remain
to be discovered.
The Chicago researchers began their study with two genes, known as
microcephalin and ASPM, that came to light because they are disabled
in a disease called microcephaly. People with the condition are born
with a brain much smaller than usual, often with a substantial
shrinkage of the cerebral cortex, that seems to be a throwback to when
the human brain was a fraction of its present size.
Last year, Dr. Lahn, one of a select group of researchers supported by
the Howard Hughes Medical Institute, showed that a group of 20
brain-associated genes, including microcephalin and ASPM, had evolved
faster in the great ape lineage than in mice and rats. He concluded
that these genes might have had important roles in human evolution. As
part of this study, he noticed that microcephalin and ASPM had an
unusual pattern of alleles. With each gene, one allele was much more
common than all the others. He and his colleagues have now studied the
worldwide distribution of the alleles by decoding the DNA of the two
genes in many different populations.
They report that with microcephalin, a new allele arose about 37,000
years ago, although it could have appeared as early as 60,000 or as
late as 14,000 years ago. About 70 percent of people in most European
and East Asian populations carry this allele of the gene, but it is
much rarer in most sub-Saharan Africans.
With the other gene, ASPM, a new allele emerged 14,100 to 500 years
ago, the researchers favoring a midway date of 5,800 years. The allele
has attained a frequency of about 50 percent in populations of the
Middle East and Europe, is less common in East Asia, and is found at
low frequency in some sub-Saharan Africa peoples.
The Chicago team suggests that the new microcephalin allele may have
arisen in Eurasia or as the first modern humans emigrated from Africa
some 50,000 years ago. They note that the ASPM allele emerged about
the same time as the spread of agriculture in the Middle East 10,000
years ago and the emergence of the civilizations of the Middle East
some 5,000 years ago, but say that any connection is not yet clear.
Dr. Lahn said there might be a fair number of genes that affect the
size of the brain, each making a small difference yet one that can be
acted on by natural selection. "It's likely that different populations
would have a different makeup of these genes, so it may all come out
in the wash," he said. In other words, East Asians and Africans
probably have other brain-enhancing alleles, not yet discovered, that
have spread to high frequency in their populations.
He said he expected that more such allele differences between
populations would come to light, as have differences in patterns of
genetic disease. "I do think this kind of study is a harbinger for
what might become a rather controversial issue in human population
research," Dr. Lahn said. But he said his data and other such findings
"do not necessarily lead to prejudice for or against any particular
A greater degree of concern was expressed by Francis S. Collins,
director of the National Human Genome Research Institute. Dr. Collins
said that even if the alleles were indeed under selection, it was
still far from clear why they had risen to high frequency, and that
"one should resist strongly the conclusion that it has to do with
brain size, because the selection could be operating on any other not
yet defined feature." He said he was worried about the way these
papers will be interpreted.
Sarah Tishkoff, a geneticist at the University of Maryland and a
co-author of both studies, said the statistical signature of selection
on the two genes was "one of the strongest that I've seen." But she,
like Dr. Collins, said that "we don't know what these alleles are
doing" and that specific tests were required to show that they in fact
influenced brain development or were selected for that reason.
Dr. Lahn acknowledges this point, writing in his article that "it
remains formally possible that an unrecognized function of
microcephalin outside of the brain is actually the substrate of
Another geneticist, David Goldstein of Duke University, said that the
new study was "very well done," but that "it is a real stretch to
argue for example that microcephalin is under selection and that that
selection must be related to brain size or cognitive function." The
gene could have risen to prominence through a random process known as
genetic drift, Dr. Goldstein said.
Richard Klein, an archaeologist who has proposed that modern human
behavior first appeared in Africa because of some genetic change that
promoted innovativeness, said the time of emergence of the
microcephalin allele "sounds like it could support my idea." If the
allele did support enhanced cognitive function, "it's hard to
understand why it didn't get fixed at 100 percent nearly everywhere,"
Dr. Klein suggested the allele might have spread for a different
reason, that as people colonizing East Asia and Europe pushed north,
they adapted to colder climates.
Commenting on critics' suggestions that the alleles could have spread
for reasons other than the effects on the brain, Dr. Lahn said he
thought such objections were in part scientifically based and in part
because of a reluctance to acknowledge that selection could affect a
trait as controversial as brain function.
The microcephalin and ASPM genes are known to be involved in
determining brain size and so far have no other known function, he
said. They are known to have been under strong selective pressure as
brain size increased from monkeys to humans, and the chances seem
"pretty good" the new alleles are continuing that, he said.
Dr. Lahn said he had tested Dr. Goldstein's idea of alleles' spreading
through drift and found it unlikely.
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