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posted by janrinok on Tuesday September 27 2016, @02:08PM   Printer-friendly

Genomic regions that set humans apart from other primates carry many autism-linked mutations

Small regions of the genome where humans have diverged from chimpanzees contain a variety of mutations implicated in autism and other neurodevelopmental disorders, report Harvard Medical School (HMS) researchers at Boston Children's Hospital.

Published online Sept. 22 in Cell , the genomic analysis—the most comprehensive of its kind to date—opens a new approach to understanding both cognitive/behavioral disorders and the still-mysterious genetic changes that made human language, culture and civilization possible.

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."

[...] "This work brings together the study of evolution and the study of neurological disease," said Walsh. "Studying the kinds of mutations in HARs that cause neurodevelopmental disorders like autism spectrum disorder may tell us about the sorts of changes that led to us having a different brain than other animals'. Chimps are social creatures, but they're different from humans. They don't live in compact cities of a million people. That requires extraordinary social behavior."


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  • (Score: 0) by Anonymous Coward on Tuesday September 27 2016, @08:38PM

    by Anonymous Coward on Tuesday September 27 2016, @08:38PM (#407086)

    Get off my bananas!