Transcriptome and epigenome changes following RNF213 knockdown in HUVEC cells

RNF213 mutations are known to cause Moyamoya disease, a rare cerebro-occlusive disease that is more common in east-Asian populations. However, the mechanism by which RNF213 leads to Moyamoya disease is not understood. Here, we knocked down RNF213 in endothelial cells (HUVEC) and conducted extensive transcriptome profiling to reveal the transcriptional and epigenetic changes after RNF213 loss of function. We also analyzed endothelial-to-smooth muscle cell (SMCs) communication via co-culture system and incubating wild-type SMCs with RNF213 KD HUVEC or Mock transfected HUVEC. Our data reveal for the first time an important potential role of Alternative splicing in the pathology of Moyamoya disease