Article
The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.
Human molecular genetics - 1 Sept 2015
Sun Xinliang, Chen Hongbo, Deng Zaian, Hu Bo, Luo Hui, Zeng Xiaobin, Han Liqiao, Cai Guoping, Ma Lan
Abstract excerpt
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...
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