LUHMES epigenetic data

In this study, we conducted an integrated analysis of the LUHMES neuronal model system, encompassing genetic, epigenetic, and transcriptomic approaches. Human cell line models, including LUHMES, are important for investigating developmental transcriptional dynamics within imprinted regions, particularly the 15q11-q13 Angelman (AS) and Prader-Willi (PWS) syndrome locus. AS is caused by a loss of maternal UBE3A specifically in neurons, due to paternal silencing mediated by the antisense UBE3A-ATS, a lncRNA that extends beyond the typical termination at PWAR1 in non-neurons. These results provide an integrated view of the 15q11-q13 epigenetic landscape during LUHMES neuronal differentiation, underscoring the complex interplay of transcription, chromatin looping, and DNA methylation. They also provide insights for future therapeutic approaches for AS and PWS.