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- Title
G protein-coupled receptor-dependent development of human frontal cortex.
- Authors
Piao, Xianhua; Hill, R Sean; Bodell, Adria; Chang, Bernard S; Basel-Vanagaite, Lina; Straussberg, Rachel; Dobyns, William B; Qasrawi, Bassam; Winter, Robin M; Innes, A Micheil; Voit, Thomas; Ross, M Elizabeth; Michaud, Jacques L; Déscarie, Jean-Claude; Barkovich, A James; Walsh, Christopher A
- Abstract
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.
- Publication
Science (New York, N.Y.), 2004, Vol 303, Issue 5666, p2033
- ISSN
1095-9203
- Publication type
Journal Article
- DOI
10.1126/science.1092780