Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning

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Science  14 Feb 2014:
Vol. 343, Issue 6172, pp. 764-768
DOI: 10.1126/science.1244392

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Fine-Tuning Brain Gyrations

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; see the Perspective by Rash and Rakic) 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.

  • * The authors contributed equally to this work.

  • Present address: Department of Anesthesiology, Pharmacology and Therapeutics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.

  • Present address: Northeast Regional Epilepsy Group, Atlantic Neuroscience Institute Epilepsy Center, Summit, NJ 07901, USA.

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