- Han, Kihoon;
- Gennarino, Vincenzo Alessandro;
- Lee, Yoontae;
- Pang, Kaifang;
- Hashimoto-Torii, Kazue;
- Choufani, Sanaa;
- Raju, Chandrasekhar S;
- Oldham, Michael C;
- Weksberg, Rosanna;
- Rakic, Pasko;
- Liu, Zhandong;
- Zoghbi, Huda Y
Proper neurological function in humans requires precise control of levels of the epigenetic regulator methyl CpG-binding protein 2 (MeCP2). MeCP2 protein levels are low in fetal brains, where the predominant MECP2 transcripts have an unusually long 3' untranslated region (UTR). Here, we show that miR-483-5p, an intragenic microRNA of the imprinted IGF2, regulates MeCP2 levels through a human-specific binding site in the MECP2 long 3' UTR. We demonstrate the inverse correlation of miR-483-5p and MeCP2 levels in developing human brains and fibroblasts from Beckwith-Wiedemann syndrome patients. Importantly, expression of miR-483-5p rescues abnormal dendritic spine phenotype of neurons overexpressing human MeCP2. In addition, miR-483-5p modulates the levels of proteins of the MeCP2-interacting corepressor complexes, including HDAC4 and TBL1X. These data provide insight into the role of miR-483-5p in regulating the levels of MeCP2 and interacting proteins during human fetal development.