While changes in MeCP2 dosage cause Rett syndrome (RTT) and duplication syndrome (MDS), its transcriptional regulation is poorly understood. Here, we identified six putative noncoding regulatory elements of , 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 and highlights genomic sites that could serve as diagnostic and therapeutic targets in RTT or MDS.
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| http://dx.doi.org/10.1101/gad.345397.120 | DOI Listing |
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