Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions
| العنوان: | Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions |
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| المؤلفون: | Joshua D. Wythe, Sameer S. Bajikar, Harini P. Tirumala, Yingyao Shao, Manuel Cantu Gutierrez, Huda Y. Zoghbi |
| المصدر: | Genes & Development. 35:489-494 |
| بيانات النشر: | Cold Spring Harbor Laboratory, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Genetics, congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, MECP2 duplication syndrome, RNA, Rett syndrome, Biology, medicine.disease, nervous system diseases, MECP2, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, mental disorders, medicine, Transcriptional regulation, Identification (biology), 030304 developmental biology, Developmental Biology, Cis-regulatory element |
| الوصف: | While changes in MeCP2 dosage cause Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), its transcriptional regulation is poorly understood. Here, we identified six putative noncoding regulatory elements of Mecp2, two of which are conserved in humans. Upon deletion in mice and human iPSC-derived neurons, these elements altered RNA and protein levels in opposite directions and resulted in a subset of RTT- and MDS-like behavioral deficits in mice. Our discovery provides insight into transcriptional regulation of Mecp2/MECP2 and highlights genomic sites that could serve as diagnostic and therapeutic targets in RTT or MDS. |
| تدمد: | 1549-5477 0890-9369 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::915cfe9355081679745d48d62d75ccf1 https://doi.org/10.1101/gad.345397.120 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi...........915cfe9355081679745d48d62d75ccf1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15495477 08909369 |
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