Article
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.
Science (New York, N.Y.) - 14 Feb 2014
Bae Byoung-Il, Tietjen Ian, Atabay Kutay D, Evrony Gilad D, Johnson Matthew B, Asare Ebenezer, Wang Peter P, Murayama Ayako Y, Im Kiho, Lisgo Steven N, Overman Lynne, Šestan Nenad, Chang Bernard S, Barkovich A James, Grant P Ellen, Topçu Meral, Politsky Jeffrey, Okano Hideyuki, Piao Xianhua, Walsh Christopher A
Abstract excerpt
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...
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