Ontology highlight
ABSTRACT:
SUBMITTER: Bae BI
PROVIDER: S-EPMC4480613 | biostudies-literature | 2014 Feb
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20140201 6172
The human neocortex has numerous specialized functional areas whose formation is poorly understood. Here, we describe a 15-base pair deletion mutation in a regulatory element of GPR56 that selectively disrupts human cortex surrounding the Sylvian fissure bilaterally including "Broca's area," the primary language area, by disrupting regional GPR56 expression and blocking RFX transcription factor binding. GPR56 encodes a heterotrimeric guanine nucleotide-binding protein (G protein)-coupled recepto ...[more]