Does This Gene Explain Our Expanded Brain Size?

Science have published an open access paper which may explain how our brains expanded. The research team focused on the genes ARHGAP11A and ARHGAP11B. ARHGAP11B is thought to be derived from ARHGAP11A and is associated with neuron stem cells in the brain. What the researchers found was that the B version differs from the A version in a key part of the gene by an amino acid substitution. This specific substitution is found in Neanderthals and Denisovans who lived tens of thousands of years ago, as well as in humans but not in Chimpanzees. ARHGAP11B has been associated with thickening of the subventricular zone in the brain and may be linked to gyrification.

An incidental note is that the gene ARHGAP11B has been associated with improved outcome of treatment for epilepsy, is one of the genes deleted in the Chromosome 15q13.3 deletion syndrome and copy number variants in this gene have been associated with Schizophrenia.

 

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