Article
Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome.
Neuron - 19 Oct 2016
Huang Wei-Hsiang, Guenthner Casey J, Xu Jin, Nguyen Tiffany, Schwarz Lindsay A, Wilkinson Alex W, Gozani Or, Chang Howard Y, Shamloo Mehrdad, Luo Liqun
Abstract excerpt
Haploinsufficiency of Retinoic Acid Induced 1 (RAI1) causes Smith-Magenis syndrome (SMS), which is associated with diverse neurodevelopmental and behavioral symptoms as well as obesity. RAI1 encodes a nuclear protein but little is known about its molecular function or the cell types responsible for SMS symptoms. Using genetically engineered mice, we found that Rai1 preferentially occupies DNA regions near active...
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