The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.

@article{Sun2015TheWB,
  title={The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.},
  author={Xinliang Sun and Hong-Shu Chen and Zaian Deng and Bo Hu and Hui Luo and Xiaobin Zeng and Liqiao Han and Guoping Cai and Lan Ma},
  journal={Human molecular genetics},
  year={2015},
  volume={24 17},
  pages={
          4901-15
        }
}
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… 

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What is known about the molecular and cellular functions of human DDX11 and its role in WABS etiopathogenesis is reviewed, even in light of recent findings on the role of cohesin and its regulator network in promoting chromatin loop formation and regulating chromatin spatial organization.
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Helicase Dysfunctions in Human Diseases
TACG_A_186476 239..248
Istituto di Biochimica e Biologia Cellulare, Consiglio Nazionale delle Ricerche, Naples 80131, Italy Abstract: Warsaw breakage syndrome (WABS) is a very rare recessive hereditary disease caused by
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