"In the last decade, comparative genomic studies have identified small regions of the human genome that are shared with many species but that changed relatively rapidly during the evolutionary divergence of humans from chimpanzees, our closest living relatives. There are about 2,700 such sequences in the genome, known as human accelerated regions or HARs.
“Since human intellectual and social behaviors are so different from other species, many labs have figured that changes in HARs might be important in the evolution of these traits in humans,” said neurogeneticist Christopher A. Walsh, HMS Bullard Professor of Pediatrics and Neurology at Boston Children’s and senior author of the Cell paper.
“But we hypothesized that if important HARs were damaged, it might also cause defective human social and/or cognitive behavior,” said Walsh, who is also chief of the Division of Genetics and Genomics at Boston Children’s and a Howard Hughes Medical Institute investigator. “We found that this is indeed the case.”...
“We found that most HAR regions contain enhancer or regulatory DNA,” said Doan. “More than 40 percent of those HARs had some sort of regulatory activity in the brain—much more than we would expect by chance.”
In all, the investigators identified about two dozen mutations in HARs that appear to have important roles in brain structure and function. Some HARs, for example, contained regions regulating neurodevelopmental processes that have diverged between humans and chimpanzees, such as synapse development."
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