title: G protein-coupled receptor-dependent development of human frontal cortex.
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.
authors.affiliation: Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: Xianhua
authors.initials: X
authors.lastname: Piao
authors.forename: R Sean
authors.initials: RS
authors.lastname: Hill
authors.forename: Adria
authors.initials: A
authors.lastname: Bodell
authors.forename: Bernard S
authors.initials: BS
authors.lastname: Chang
authors.forename: Lina
authors.initials: L
authors.lastname: Basel-Vanagaite
authors.forename: Rachel
authors.initials: R
authors.lastname: Straussberg
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: Bassam
authors.initials: B
authors.lastname: Qasrawi
authors.forename: Robin M
authors.initials: RM
authors.lastname: Winter
authors.forename: A Micheil
authors.initials: AM
authors.lastname: Innes
authors.forename: Thomas
authors.initials: T
authors.lastname: Voit
authors.forename: M Elizabeth
authors.initials: ME
authors.lastname: Ross
authors.forename: Jacques L
authors.initials: JL
authors.lastname: Michaud
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Déscarie
authors.forename: A James
authors.initials: AJ
authors.lastname: Barkovich
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D016375:Antisense Elements (Genetics); D005075:Biological Evolution; D019521:Body Patterning; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000196:embryology; D002552:Cerebral Ventricles / Q000166:cytology / Q000196:embryology; D005260:Female; D016368:Frameshift Mutation; D005625:Frontal Lobe / Q000002:abnormalities* / Q000196:embryology; D023061:Gene Order; D006801:Humans; D008024:Ligands; D008297:Male; D051379:Mice; D020125:Mutation, Missense; D009474:Neurons / Q000502:physiology; D010296:Parietal Lobe / Q000002:abnormalities / Q000196:embryology; D043562:Receptors, G-Protein-Coupled / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism / Q000502:physiology*; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D015398:Signal Transduction; D013234:Stem Cells / Q000502:physiology
chemical_list: C118925:ADGRG1 protein, human; D016375:Antisense Elements (Genetics); D008024:Ligands; D043562:Receptors, G-Protein-Coupled