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The Effect Of Retinoic Acid On Rai1 And Identification Of Retinoic Acid Receptor Binding Site In Human Rai1, Bingjie Xue
The Effect Of Retinoic Acid On Rai1 And Identification Of Retinoic Acid Receptor Binding Site In Human Rai1, Bingjie Xue
Theses and Dissertations
Previous studies showed haploinsufficiency of RAI1 is the main cause of Smith-Magenis syndrome (SMS). SMS is a developmental neurobehavioral syndrome characterized by intellectual disability, congenital anomalies, obesity, neurobehavioral abnormalities, and disrupted circadian sleep-wake pattern. SMS is caused by deletion or mutation of chromosomal region 17p11.2 that includes RAI1. Studies in the Elsea lab have shown that RAI1 is a dosage-sensitive gene. Haploinsufficiency of RAI1 leads to dysregulation of CLOCK, NR1D2, POMC, and BDNF, which are responsible for circadian rhythm, metabolism, and cognitive development. Based on the data from Elsea’s recent study on zebrafish, rai1 gene expression in zebrafish is regulated …