Publication Date:
2004-03-27
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉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 -- Descarie, Jean-Claude -- Barkovich, A James -- Walsh, Christopher A -- HD07466/HD/NICHD NIH HHS/ -- K08 NS045762-01A1/NS/NINDS NIH HHS/ -- R37 NS35129/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 2004 Mar 26;303(5666):2033-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15044805" target="_blank"〉PubMed〈/a〉
Keywords:
Amino Acid Substitution
;
Animals
;
Antisense Elements (Genetics)
;
Biological Evolution
;
Body Patterning
;
Cerebral Cortex/*abnormalities/embryology
;
Cerebral Ventricles/cytology/embryology
;
Female
;
Frameshift Mutation
;
Frontal Lobe/*abnormalities/embryology
;
Gene Order
;
Humans
;
Ligands
;
Male
;
Mice
;
Mutation, Missense
;
Neurons/physiology
;
Parietal Lobe/abnormalities/embryology
;
Receptors, G-Protein-Coupled/chemistry/*genetics/metabolism/*physiology
;
Sequence Deletion
;
Sequence Homology, Amino Acid
;
Signal Transduction
;
Stem Cells/physiology
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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