Mutations in single gene may have shaped human cerebral cortex

April 28th, 2011 in Genetics /
An MRI of brain of patient with severe form of microcephaly compared to a control subject. A team of researchers have found that mutations in a single gene may cause large discrepancy in size of the cerebral cortex. Credit: Courtesy of Yale University School of Medicine


An MRI of brain of patient with severe form of microcephaly compared to a control subject. A team of researchers have found that mutations in a single gene may cause large discrepancy in size of the cerebral cortex. Credit: Courtesy of Yale University School of Medicine

The size and shape of the human cerebral cortex, an evolutionary marvel responsible for everything from Shakespeare's poetry to the atomic bomb, are largely influenced by mutations in a single gene, according to a team of researchers led by the Yale School of Medicine and three other universities.

The findings, reported April 28 in the , are based on a of in one Turkish family and two Pakistani families with offspring born with the most severe form of microcephaly. The children have brains just 10 percent of normal size. They also lacked the normal cortical architecture that is a hallmark of the human brain. This combination of factors has not been seen in other associated with the development of the human brain, the authors note.

The researchers found that in the same gene, centrosomal NDE1, which is involved in cell division, were responsible for the deformity.

"The degree of reduction in the size of the and the effects on brain morphology suggest this gene plays a key role in the evolution of the human brain," said Murat Gunel, co-senior author of the paper and the Nixdorff-German Professor of Neurosurgery and professor of genetics and neurobiology at Yale.

Scientists from Yale, the University of Cambridge, Harvard and Northwestern universities collaborated on the study with colleagues around the world, including those in Turkey and Saudi Arabia.

"These findings demonstrate how single molecules have influenced the expansion of the human cerebral cortex in the last five million years," Gunel said. "We are now a little closer to understanding just how this miracle happens."

Provided by Yale University

"Mutations in single gene may have shaped human cerebral cortex." April 28th, 2011. http://medicalxpress.com/news/2011-04-mutations-gene-human-cerebral-cortex.html