YAP1 subgroup supratentorial ependymoma requires TEAD and nuclear factor I-mediated transcriptional programmes for tumorigenesis.
Kristian W PajtlerYiju WeiKonstantin OkonechnikovPatricia B G SilvaMikaella VouriLei ZhangSebastian BrabetzLaura SieberMelissa GulleyMonika MauermannTatjana WedigNorman MackYuka Imamura KawasawaTanvi SharmaMarc ZuckermannFelipe AndreiuoloEric C HollandKendra MaassHuiqin Körkel-QuHai-Kun LiuFelix SahmDavid CapperJens BuntLinda J RichardsDavid T W JonesAndrey KorshunovLukas ChavezPeter LichterMikio HoshinoStefan M PfisterMarcel KoolWei LiDaisuke KawauchiPublished in: Nature communications (2019)
YAP1 fusion-positive supratentorial ependymomas predominantly occur in infants, but the molecular mechanisms of oncogenesis are unknown. Here we show YAP1-MAMLD1 fusions are sufficient to drive malignant transformation in mice, and the resulting tumors share histo-molecular characteristics of human ependymomas. Nuclear localization of YAP1-MAMLD1 protein is mediated by MAMLD1 and independent of YAP1-Ser127 phosphorylation. Chromatin immunoprecipitation-sequencing analyses of human YAP1-MAMLD1-positive ependymoma reveal enrichment of NFI and TEAD transcription factor binding site motifs in YAP1-bound regulatory elements, suggesting a role for these transcription factors in YAP1-MAMLD1-driven tumorigenesis. Mutation of the TEAD binding site in the YAP1 fusion or repression of NFI targets prevents tumor induction in mice. Together, these results demonstrate that the YAP1-MAMLD1 fusion functions as an oncogenic driver of ependymoma through recruitment of TEADs and NFIs, indicating a rationale for preclinical studies to block the interaction between YAP1 fusions and NFI and TEAD transcription factors.