WASHINGTON (AP) – The human brain may still be evolving.

So suggests new research that tracked changes in two genes thought to help regulate brain growth, changes that appeared well after the rise of modern humans 200,000 years ago. That the defining feature of humans – our large brains – continued to evolve as recently as 5,800 years ago, and may be doing so today, promises to surprise the average person, if not biologists.

“We, including scientists, have considered ourselves as sort of the pinnacle of evolution,” noted lead researcher Bruce Lahn, a University of Chicago geneticist whose studies appear in Friday’s edition of the journal Science.

“There’s a sense we as humans have kind of peaked,” agreed Greg Wray, director of Duke University’s Center for Evolutionary Genomics. “A different way to look at is it’s almost impossible for evolution not to happen.”

Still, the findings also are controversial, because it’s far from clear what effect the genetic changes had or if they arose when Lahn’s “molecular clock” suggests – at roughly the same time period as some cultural achievements, including written language and the development of cities.

Lahn and colleagues examined two genes, named microcephalin and ASPM, that are connected to brain size. If those genes don’t work, babies are born with severely small brains, called microcephaly.

Using DNA samples from ethnically diverse populations, they identified a collection of variations in each gene that occurred with unusually high frequency. In fact, the variations were so common they couldn’t be accidental mutations but instead were probably due to natural selection, where genetic changes that are favorable to a species quickly gain a foothold and begin to spread, the researchers report.

Lahn offers an analogy: Medieval monks would copy manuscripts and each copy would inevitably contain errors – accidental mutations. Years later, a ruler declares one of those copies the definitive manuscript, and a rush is on to make many copies of that version – so whatever changes from the original are in this presumed important copy become widely disseminated.

Scientists attempt to date genetic changes by tracing back to such spread, using a statistical model that assumes genes have a certain mutation rate over time.

For the microcephalin gene, the variation arose about 37,000 years ago, about the time period when art, music and tool-making were emerging, Lahn said. For ASPM, the variation arose about 5,800 years ago, roughly correlating with the development of written language, spread of agriculture and development of cities, he said.

“The genetic evolution of humans in the very recent past might in some ways be linked to the cultural evolution,” he said.

Other scientists urge great caution in interpreting the research.

That the genetic changes have anything to do with brain size or intelligence “is totally unproven and potentially dangerous territory to get into with such sketchy data,” stressed Dr. Francis Collins, director of the National Human Genome Research Institute.

Aside from not knowing what the gene variants actually do, no one knows how precise the model Lahn used to date them is, Collins added.

Lahn’s own calculations acknowledge that the microcephalin variant could have arisen anywhere from 14,000 to 60,000 years ago, and that the uncertainty about the ASPM variant ranged from 500 to 14,000 years ago.

Those criticisms are particularly important, Collins said, because Lahn’s testing did find geographic differences in populations harboring the gene variants today. They were less common in sub-Saharan African populations, for example.

That does not mean one population is smarter than another, Lahn and other scientists stressed, noting that numerous other genes are key to brain development.

“There’s just no correlation,” said Duke’s Wray, calling education and other environmental factors more important for intelligence than DNA anyway.

The work was funded by the Howard Hughes Medical Institute.


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