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The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development
2015
Human Molecular Genetics
DDX11 was recently identified as a cause of Warsaw breakage syndrome (WABS). However, the functional mechanism of DDX11 and the contribution of clinically described mutations to the pathogenesis of WABS are elusive. Here, we show that DDX11 is a novel nucleolar protein that preferentially binds to hypomethylated active ribosomal DNA (rDNA) gene loci, where it interacts with upstream binding factor (UBF) and the RNA polymerase I (Pol I). DDX11 knockdown changed the epigenetic state of rDNA loci
doi:10.1093/hmg/ddv213
pmid:26089203
fatcat:kmjttoqonzeypehcpra6iowotq