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Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis
Huang WH, Guenthner CJ, Xu J, Nguyen T, Schwarz LA, Wilkinson AW, Gozani O,
Chang HY, Shamloo M, Luo L
Submitted Externally on 1/3/2017
Volume : Pages
92 : 392 - 406
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 promoters and promotes the
expression of a group of genes involved in circuit assembly and neuronal
communication. Behavioral analyses demonstrated that pan-neural loss of
Rai1 causes deficits in motor function, learning, and food intake. These
SMS-like phenotypes are produced by loss of Rai1 function in distinct neuronal
types: Rai1 loss in inhibitory neurons or subcortical glutamatergic neurons
causes learning deficits, while Rai1 loss in Sim1(+) or SF1(+) cells causes
obesity. By integrating molecular and organismal analyses, our study suggests
potential therapeutic avenues for a complex neurodevelopmental disorder.
nuclear receptor subfamily 5, group A, member 1
retinoic acid induced 1
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