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.The findings are based on a genetic analysis 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 genes associated with the development of the human brain, the authors note.
The researchers found that mutations in the same gene, centrosomal NDE1, which is involved in cell division, were responsible for the deformity.
"These findings demonstrate how single molecules have influenced the expansion of the human cerebral cortex in the last five million years," Gunel said. Link
Ref: The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis. 2011. M. Bakircioglu, et al. American Journal of Human Genetics.