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The Gene That Made Us Human
Scientists decode a critical gene that may have led to the evolution of
our big brains
By Zach Zorich
March 04, 2004 | Mind & Brain

Scientists have long suspected that humans evolved large brains because
our hominid ancestors had to outwit and elude predators, learn to use
fire, and develop complex social structures. The smart hominids survived,
while the stupid ones were more likely to get eaten or freeze to death.
Over millions of years, the result of this game of survival of the
fittest was the appearance of big-brained, peculiarly intelligent modern
humans. Now Bruce Lahn, a biomedical researcher at the University of
Chicago, has found the first clear indication of the genetic changes that
led to the rapid expansion of our brain.

 

Lahn and his colleagues looked at the abnormal spindle-like microcephaly
associated (ASPM) gene, which scientists had previously identified as a
key player in brain development. He grew intrigued by ASPM after other
researchers discovered that serious defects in the gene cause
microcephaly�a drastic reduction in the size of the brain�s cerebral
cortex, the region responsible for such higher brain functions as
abstract thought and planning. Lahn wondered: Could changes in this gene,
favored by the pressures of natural selection, have directed the
development of the big, modern human brain?

 

To find out, Lahn compared the sequence of the human ASPM gene with the
equivalent gene sequences of various primates�including chimpanzees,
gorillas, and gibbons�and with the sequences of nonprimate species such
as mice, cows, and dogs. He isolated genetic mutations that altered the
structure of the ASPM protein and thus could have affected brain size,
while weeding out the random mutations that had no structural effect and
hence would have been unaffected by evolutionary pressures. Lahn found
that the ASPM gene in humans has undergone 15 important mutations since
we last shared a common ancestor with chimpanzees, about 5 million years
ago. Significantly, compared with the other animals studied, humans have
experienced the fastest overall rate of change in the gene since our
evolutionary line parted ways with chimpanzees and other primates.
Evidently, ASPM responded to natural selection, and the resulting changes
contributed to our large brains.

 

How exactly the ASPM gene produced these changes is not yet entirely
clear. It seems to control how many times cells in the cerebral cortex
can divide, which controls how much space there is for neurons. A variant
of the gene that allowed additional cell divisions, Lahn surmises, gave
some hominids the additional neural infrastructure that eventually let
them develop abstract reasoning and language skills. The exact
environmental pressures that pushed humans toward higher intelligence
also remain a matter of speculation. �Humans are very social, and coming
down from the trees to live on the African plains could have triggered a
situation where higher cognitive abilities were highly favored,� Lahn
says. The need for hominids to work cooperatively to find food and to
combat the increased threat of large predators could have fostered the
development of a larger brain capable of processing language and
anticipating danger. 

 

In future experiments, Lahn will insert the human ASPM gene into mice to
see what affect it has on brain development. He hopes to reconstruct the
detailed story of how the human brain grew and changed as the result of
natural selection, thereby creating the thing that makes us each
unique�the human mind.

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