Novel Mutation Affects Brain-Folding Protein (2 of 4) (IMAGE)

American Association for the Advancement of Science (AAAS)

Novel Mutation Affects Brain-Folding Protein (2 of 4)

Caption

The cerebral cortical development gene GPR56 has multiple alternative promoters. Mutation of a cis-regulatory element impairs one of the GPR56 promoters, leading to abnormal gyral patterning in the perisylvian cortex. Mutated DNA (highlighted in red) cannot bind RFX transcription factor (highlighted in green). This image relates to a paper that appeared in the Feb. 14, 2014, issue of Science, published by AAAS. The paper, by Byoung-il Bae at Howard Hughes Medical Institute in Boston, Mass., and colleagues was titled, "Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning."

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[Image courtesy of Byoung-il Bae]

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