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G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

2004; American Association for the Advancement of Science; Volume: 303; Issue: 5666 Linguagem: Inglês

10.1126/science.1092780

1095-9203

Xianhua Piao, R. Sean Hill, Adria Bodell, Bernard S. Chang, Lina Basel‐Vanagaite, Rachel Straussberg, William B. Dobyns, Bassam Qasrawi, Robin M. Winter, A. Micheil Innes, Thomas Voit, M. Elizabeth Ross, Jacques L. Michaud, Jean-Claude Déscarie, A. James Barkovich, Christopher A. Walsh,

Neuroscience and Neuropharmacology Research

The mammalian cerebral cortex is characterized by complex patterns of anatomical and functional areas that differ markedly between species, but the molecular basis for this functional subdivision is largely unknown. Here, we show that mutations in GPR56, which encodes an orphan G protein-coupled receptor (GPCR) with a large extracellular domain, cause a human brain cortical malformation called bilateral frontoparietal polymicrogyria (BFPP). BFPP is characterized by disorganized cortical lamination that is most severe in frontal cortex. Our data suggest that GPCR signaling plays an essential role in regional development of human cerebral cortex.