Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning

A handful of patients who suffer from seizures and mild intellectual disability have now led the way to insights about how one piece of regulatory DNA controls development of a section of the human cortex. Imaging the brains of these patients, Bae et al. (p. [764][1]; see the Perspective by [ Rash and Rakic ][2]) observed malformations on the surface folds in a brain region that includes “Broca's area,” the main region underlying language. The three affected families shared a 15–base pair deletion in the regulatory region of a gene, GPR56 , which encodes a G protein–coupled receptor required for normal cortical development that is expressed in cortical progenitor cells. [1]: /lookup/doi/10.1126/science.1244392 [2]: /lookup/doi/10.1126/science.1250246