Novel Mutation Affects Brain-Folding Protein (1 of 4) (IMAGE)
Caption
The cerebral cortical development gene GPR56 has multiple alternative promoters. Mutation of a cis-regulatory element impairs one of the promoters, leading to abnormal gyral patterning in the lateral frontal cortex. A 23-kb upstream region of human GPR56 drives green fluorescent protein expression throughout the transgenic mouse neocortex (top), and the mutation eliminates expression from lateral cortex (bottom). 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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